Resume for Exam Anatomy of the Female Reproductive System PDF
Document Details
Uploaded by Deleted User
Tags
Related
- Female Reproductive System PDF
- Anatomy & Physiology of the Male and Female Reproductive System PDF
- Biology Reviewer: Reproductive System
- Anatomy & Physiology of the Male and Female Reproductive System PDF
- Female Reproductive System Anatomy PDF
- Anatomy and Physiology of Female Reproductive System Part 2 PDF
Summary
This document provides an overview of the anatomy of the female reproductive system, including the ovaries, fallopian tubes, uterus, and vagina. It covers the structure and function of each organ.
Full Transcript
📜 Resume for Exam Anatomy of the Female Reproductive System The female reproductive system consists of internal organs (ovaries, fallopian tubes, uterus, vagina) and external genitalia (vulva). It plays essential roles in gamete production, hormona...
📜 Resume for Exam Anatomy of the Female Reproductive System The female reproductive system consists of internal organs (ovaries, fallopian tubes, uterus, vagina) and external genitalia (vulva). It plays essential roles in gamete production, hormonal regulation, fertilization, pregnancy, and childbirth. 1. Ovaries Overview: Paired oval structures located in the pelvic cavity on either side of the uterus. Anchored by: Ovarian ligament (to the uterus). Suspensory ligament (to the lateral pelvic wall). Mesovarium (part of the broad ligament). Structure: Cortex: Contains developing follicles. Resume for Exam 1 Medulla: Rich in blood vessels, lymphatics, and nerves. Surface: Covered by germinal epithelium and tunica albuginea (fibrous capsule). Functions: 1. Oogenesis: Production and release of oocytes during the menstrual cycle. 2. Hormone Secretion: Estrogen: Develops secondary sexual characteristics. Progesterone: Prepares the endometrium for implantation. Blood Supply: Ovarian arteries (from the abdominal aorta). Venous drainage via the ovarian veins. 2. Fallopian Tubes Overview: Also called uterine tubes or oviducts. Length: ~10-12 cm. Connect the ovaries to the uterus. Segments: 1. Infundibulum: Funnel-shaped opening near the ovary. Resume for Exam 2 Fimbriae sweep the oocyte into the tube. 2. Ampulla: Longest section; common site of fertilization. 3. Isthmus: Narrow portion connecting to the uterus. 4. Intramural (Interstitial): Passes through the uterine wall. Functions: Capture and transport oocytes to the uterus. Fertilization occurs in the ampulla. Provides nutrients for the zygote during transit. Histology: Mucosa: Ciliated columnar epithelium aids in oocyte transport. Muscularis: Smooth muscle for peristalsis. Serosa: Outer protective layer. Blood Supply: Tubal branches of the uterine and ovarian arteries. Resume for Exam 3 3. Uterus Overview: A hollow, muscular organ located in the pelvic cavity. Size: ~7-9 cm in length (non-pregnant). Anchored by ligaments (broad, round, uterosacral). Regions: 1. Fundus: Dome-shaped top. 2. Body (Corpus): Largest part; contains the uterine cavity. 3. Cervix: Narrow lower segment connecting to the vagina. Layers: 1. Endometrium (inner mucosal layer): Functional layer: Sheds during menstruation. Basal layer: Regenerates the functional layer. 2. Myometrium: Thick layer of smooth muscle for uterine contractions. 3. Perimetrium: Outer serous layer (continuous with the peritoneum). Functions: Menstruation: Sheds the endometrium if no fertilization occurs. Implantation: Provides a site for embryo attachment. Labor: Contracts to expel the fetus during childbirth. Blood Supply: Uterine arteries (from the internal iliac artery). Resume for Exam 4 4. Vagina Overview: A fibromuscular canal connecting the cervix to the external genitalia. Length: ~8-10 cm. Positioned posterior to the bladder and anterior to the rectum. Structure: Elastic walls with rugae allow for expansion during intercourse and childbirth. Functions: Passageway for menstrual flow. Birth canal during labor. Facilitates sexual intercourse. Histology: 1. Mucosa: Lined with stratified squamous epithelium for friction resistance. Maintains an acidic pH due to lactobacilli metabolism of glycogen. Resume for Exam 5 2. Muscularis: Smooth muscle layers provide flexibility and support. 3. Adventitia: Connective tissue anchors the vagina to surrounding structures. Blood Supply: Vaginal branches of the uterine and internal iliac arteries. 5. Vulva The vulva comprises the external genitalia, which protect the internal reproductive organs and contribute to sexual arousal. Components: 1. Mons Pubis: Fat pad over the pubic bone; covered with pubic hair post-puberty. 2. Labia Majora: Outer, hair-covered folds of skin; contain sebaceous and sweat glands. 3. Labia Minora: Inner, hairless folds; enclose the vestibule. Resume for Exam 6 4. Clitoris: Erectile tissue homologous to the male penis; highly sensitive. 5. Vestibule: Contains openings for the vagina, urethra, and Bartholin’s glands (lubricate during intercourse). 6. Perineum: Area between the vaginal opening and anus; supports pelvic structures. Clinical Relevance Ovarian Disorders: Polycystic ovary syndrome (PCOS), ovarian cysts, or ovarian cancer. Fallopian Tube Disorders: Ectopic pregnancy, salpingitis. Uterine Disorders: Endometriosis, fibroids, uterine prolapse. Vaginal Infections: Resume for Exam 7 Candidiasis, bacterial vaginosis. Vulvar Disorders: Vulvodynia, Bartholin’s cyst. Summary Table: Organ Function Key Features Oogenesis, hormone Ovaries Cortex (follicles), medulla (vascular core) production Fallopian Egg transport, site of Segments: infundibulum, ampulla, isthmus Tubes fertilization Menstruation, Uterus Endometrium, myometrium, perimetrium implantation, labor Birth canal, Vagina intercourse, Stratified squamous epithelium, rugae menstrual flow Protection, sexual Vulva Labia, clitoris, vestibule, glands arousal Male Reproductive System Overview 1. Introduction The male reproductive system is specialized for the production, storage, and delivery of sperm and the secretion of male sex hormones, primarily testosterone. Resume for Exam 8 2. Anatomy and Components 2.1 Testis 1. Location and Setting: Located in the scrotum, outside the abdominal cavity, to maintain optimal temperature for spermatogenesis. Encased in the tunica vaginalis and supported by the scrotal ligament. 2. Macroscopic Features: Divided into lobules containing seminiferous tubules, where sperm production occurs. Rete testis and mediastinum are key structures for sperm transport. 3. Microscopic Features: Seminiferous tubules: Site of spermatogenesis. Interstitial (Leydig) cells: Produce testosterone. Sertoli cells: Provide nourishment and structural support for developing sperm. 4. Blood Supply: Testicular arteries and veins form the pampiniform plexus, which aids in temperature regulation. Resume for Exam 9 2.2 Spermatic Pathway 1. Epididymis: Long coiled duct where sperm mature and gain motility. 2. Ductus (Vas) Deferens: Transports sperm from the epididymis to the ejaculatory ducts. 3. Ejaculatory Duct: Formed by the union of the vas deferens and seminal vesicle duct, it empties into the urethra. 2.3 Accessory Glands 1. Prostate: Resume for Exam 10 Produces prostatic fluid, which contributes to semen volume and enhances sperm motility. 2. Seminal Vesicles: Secrete a fructose-rich fluid to provide energy for sperm. 3. Bulbourethral Glands: Produce a mucus-like secretion to lubricate the urethra and neutralize acidity. 2.4 External Genitalia 1. Penis: Comprised of erectile bodies: Corpus cavernosum (paired). Corpus spongiosum, which surrounds the urethra. Blood supply involves the superficial and deep arterial systems, drained by the venous system. 2. Scrotum: Protective sac that houses the testes and regulates temperature. 3. Functions 1. Spermatogenesis: The production of sperm in the seminiferous tubules. Involves stages: spermatogonia → primary spermatocytes → secondary spermatocytes → spermatids → spermatozoa. 2. Hormone Production: Testosterone is secreted by Leydig cells and is critical for: Development of secondary sexual characteristics. Maintenance of libido and spermatogenesis. 3. Semen Production: Contributions from the prostate, seminal vesicles, and bulbourethral glands ensure optimal sperm transport and survival. 4. Clinical Correlation Resume for Exam 11 1. Disorders of the Testis: Cryptorchidism: Failure of the testes to descend, increasing infertility risk. Testicular torsion: Twisting of the spermatic cord, causing ischemia. Testicular cancer: Often presents as a painless lump. 2. Prostate Disorders: Benign Prostatic Hyperplasia (BPH): Enlarged prostate causing urinary symptoms. Prostate cancer: Common malignancy in older men. 3. Infertility: Can result from abnormal sperm production, hormone imbalances, or obstructed pathways. Summary Table Structure Function Key Features Sperm production, testosterone Seminiferous tubules, Leydig Testis secretion cells, Sertoli cells Epididymis Sperm maturation and storage Coiled duct posterior to the testis Sperm transport to ejaculatory Vas Deferens Thick muscular walls duct Secretes prostatic fluid to Prostate Surrounds the urethra enhance motility Provides energy-rich fructose Seminal Vesicles Located posterior to the bladder fluid for sperm Bulbourethral Secretes pre-ejaculate for Situated inferior to the prostate Glands lubrication and neutralization Facilitates copulation and semen Erectile tissue, arterial and venous Penis delivery systems for erection This comprehensive overview covers the male reproductive system's anatomy, physiology, and clinical relevance, providing a thorough foundation for understanding its function and associated disorders. Preconception Care and Genetic Counseling 1. Preconception Care Resume for Exam 12 Definition: Preconception care refers to the education, medical care, and counseling provided to prospective parents to optimize maternal and fetal health outcomes. It involves identifying and managing risks before conception to reduce maternal, neonatal, and infant mortality. Key Aspects: Promotes planning for pregnancy and addresses health risks. Recommended by the National Health Plan (e.g., Portugal: Direcção-Geral de Saúde). Objectives: Identify and address medical, behavioral, or environmental risks to reproductive health. Educate couples on steps to improve health before conception. 2. Preconception Consultation Who Should Attend? Couples planning pregnancy, especially those with a family history of genetic conditions or maternal risk factors. Healthcare Providers Involved: Primary care physicians (GPs). Specialists (gynecologists, obstetricians, clinical geneticists). Components of the Consultation: 1. Clinical History: General data (age, reproductive history). Chronic diseases (e.g., heart disease, diabetes, thyroid disorders, mental health). Family history of genetic diseases or congenital abnormalities (e.g., consanguinity, syndromes). Assess consanguinity or risk factors. 2. Vaccinations: Resume for Exam 13 Ensure immunization against tetanus, diphtheria, rubella, measles, and hepatitis B. Address specific vaccinations (e.g., COVID-19). 3. Nutritional Supplements: Folic Acid: 400 µg/day (5 mg/day for high-risk cases). Iodine: 150 µg/day. Iron: 30–60 mg/day if anemic. 4. Screening and Laboratory Tests: Blood group and Rh factor, hemoglobinopathies. Screening for HIV, syphilis, toxoplasmosis, thyroid function, and others. 5. Lifestyle and Behavior: Assess diet, exercise, alcohol, smoking, and drug use. 3. Genetic Counseling Definition: Genetic counseling provides information about the risk of inheriting or passing on genetic conditions. It is designed to help individuals make informed reproductive decisions. Objectives: Understand genetic contributions to specific health conditions. Assess risk and inheritance patterns. Guide decisions related to genetic testing and reproductive choices. When is it Indicated? 1. Family or personal history of a genetic disorder. 2. Pregnancy after age 35. 3. Previous pregnancy losses or stillbirths. 4. History of congenital abnormalities or developmental delays. 5. Consanguinity (close blood relations between partners). Process: Resume for Exam 14 1. Interpretation of family and medical histories. 2. Education on inheritance patterns, prevention, and management. 3. Counseling for informed reproductive choices. 4. Support for adjustment to genetic risks or conditions. Family Tree Analysis: Uses standardized symbols to map family relationships and trace inheritance patterns. 4. Genetic Diseases Definition: Conditions caused by abnormalities in the genome. Types: 1. Mendelian Diseases: Autosomal Dominant: Single defective gene is sufficient (e.g., Huntington's disease). Autosomal Recessive: Both copies of the gene must be defective (e.g., cystic fibrosis). X-linked: Mutations on the X chromosome. 2. Multifactorial/Polygenic Diseases: Interaction of genetic and environmental factors (e.g., diabetes, heart disease). 3. Mitochondrial Diseases: Disorders inherited from the mother (e.g., Leber's hereditary optic neuropathy). 4. Chromosomal Diseases: Abnormalities in chromosome structure or number (e.g., Down syndrome). 5. Expansion Repeat Diseases: Disorders due to trinucleotide repeat expansions (e.g., Fragile X syndrome). Resume for Exam 15 5. Clinical Cases Case 1: Cystic Fibrosis (CF) in the Family: Inheritance: Autosomal recessive. Epidemiology: Most common genetic disorder in Caucasians (birth prevalence 1 in 2,500). Clinical Features: Chronic, progressive condition. Thick mucus in the lungs leads to infections and bronchiectasis. Genetic Basis: Mutations in the CFTR gene (chromosome 7q31). Dysfunctional chloride channels impair secretion clearance. Management: DNA testing for both partners to assess carrier status. Options for affected couples: Prenatal testing or Preimplantation Genetic Testing (PGT). Case 2: Intellectual Disability (Fragile X Syndrome): Inheritance: X-linked. Epidemiology: Most common inherited cause of intellectual disability (1 in 4,000 males). Clinical Features: Intellectual impairment, behavioral disorders, and physical features (e.g., large ears, flat feet). Genetic Basis: Caused by CGG trinucleotide repeat expansions in the FMR1 gene (Xq27.3). Case 3: Consanguinity (First Cousins): Risk: Higher likelihood of autosomal recessive disorders due to shared genes (1/8 genetic similarity). Resume for Exam 16 Testing: Use of Whole Exome Sequencing (WES) to detect shared mutations. 6. Reproductive Choices Genetic counseling enables couples to make informed decisions: 1. Accept the risk and proceed with pregnancy. 2. Spontaneous pregnancy with prenatal testing. 3. PGT via in-vitro fertilization (IVF). 4. Opt for donor eggs/sperm or adoption. 5. Decide against biological children. 7. Preimplantation Genetic Testing (PGT) What is PGT? An IVF-based process that selects embryos free of specific genetic mutations or chromosomal abnormalities. Indications: High risk of transmitting genetic conditions (e.g., Fragile X, Huntington’s disease). Process: Embryos are created via IVF. Biopsy and genetic testing are performed before implantation. Outcomes: 20% chance of pregnancy per treatment cycle. Smoking, obesity, and advanced maternal age reduce success rates. 8. Ethical Issues 1. Non-directive Counseling: Respect for patient autonomy. 2. Informed Consent: Resume for Exam 17 Explicit, voluntary consent with adequate information. 3. PGT: Ethical considerations vary by country. Summary Table: Topic Key Points Preconception Identifies and mitigates risks to reproductive health. Care Genetic Provides risk assessment, education, and reproductive options. Counseling Genetic Mendelian, polygenic, mitochondrial, chromosomal, expansion repeats. Disorders Autosomal recessive; affects lungs and digestion; managed via PGT or Cystic Fibrosis testing. Fragile X X-linked; intellectual disability; caused by trinucleotide repeat expansions. Syndrome Reproductive Prenatal testing, PGT, adoption, donor gametes, or accepting risks. Options Screening in Population Health Screening is a systematic process to identify individuals at higher risk of developing specific conditions within an apparently healthy population. It serves as a critical tool for prevention, early detection, and intervention to improve public health outcomes. 1. What is Screening? Definition: Screening involves applying a test (clinical, observational, or laboratory) to a population to identify individuals at risk for a particular condition before symptoms appear. It is not a diagnostic test but a preliminary identification of potential risk. Purpose: Risk identification: Separate individuals likely to have a condition from those unlikely to. Resume for Exam 18 Offer early treatment or intervention, improving outcomes. Help individuals make informed decisions about their care. 2. Objectives of Screening Programs Public Health Goals: 1. Reduce Mortality: Detect conditions early when they are more treatable (e.g., cancer, tuberculosis). 2. Reduce Incidence: Identify and treat precursors (e.g., cervical intraepithelial neoplasia to prevent cervical cancer). 3. Reduce Severity: Manage diseases earlier to avoid severe complications. 4. Empowerment and Choice: Identify risks early to provide individuals with more care options. 3. Types of Screening Screening programs are tailored to specific populations and purposes: 1. Population Screening: Targets an eligible group (usually age-defined) for maximum health benefits. Focuses on equity and accessibility. Examples: Mammograms for breast cancer, cervical smears for cervical cancer. 2. Individual Screening: Conducted in a healthcare setting for individuals. Useful for preventing disease through risk evaluation (e.g., genetic predisposition). 3. Occupational Screening: Prevents work-related diseases (e.g., lung function tests for miners). Resume for Exam 19 4. School-based Screening: Targets children’s health (e.g., vision and hearing tests). 4. Screening Programs Key Components: 1. Eligibility: Scientific evidence defines groups most at risk and most likely to benefit. 2. Accuracy: No test is 100% accurate; false positives and negatives are inevitable. 3. Intervals: Screening is performed at recommended intervals to balance cost and effectiveness. 4. Confirmation: Positive screening results require diagnostic follow-up to confirm the condition. Steps in a Screening Pathway: 1. Test Application: Apply the test to the population (e.g., TB skin test, mammograms). 2. Risk Identification: Classify results as high or low likelihood of disease. 3. Diagnostic Confirmation: Confirm the diagnosis in positive cases. 4. Treatment/Intervention: Initiate care to manage the condition or mitigate risks. 5. Validity of Screening Tests Key Measures: 1. Sensitivity: Ability to correctly identify those with the condition (true positives). Resume for Exam 20 2. Specificity: Ability to correctly identify those without the condition (true negatives). 3. Positive Predictive Value (PPV): Likelihood that a positive result indicates actual disease. 4. Negative Predictive Value (NPV): Likelihood that a negative result indicates absence of disease. 6. Balancing Benefits and Risks Benefits: 1. Early Detection: Enables less toxic treatments and better outcomes (e.g., early-stage breast cancer). 2. Reduced Disability: Prevents long-term consequences of untreated diseases. 3. Economic Impact: Reduces healthcare costs by avoiding late-stage treatments. Risks: 1. False Positives: May lead to unnecessary anxiety, tests, and treatments. 2. False Negatives: Missed diagnoses may delay necessary care. 3. Overdiagnosis: Detection of conditions that would not have caused harm, leading to overtreatment. 4. Test Complications: Invasive procedures (e.g., amniocentesis) carry risks like miscarriage or infection. 7. Limitations of Screening 1. Not a Guarantee: Resume for Exam 21 Screening cannot guarantee protection from disease or predict future risk. 2. Ethical Concerns: Ensuring informed consent and avoiding coercion in population programs. 3. Public Expectations: Unrealistic expectations may arise, requiring public education on screening limitations. 8. Screening vs. Diagnostic Testing Aspect Screening Diagnosis Target Group Asymptomatic population Symptomatic individuals Purpose Identify risk Confirm disease Resource Usage High, broad population focus Low, focused on individuals Identify risk; not definitive Definitive confirmation of Outcome diagnosis condition 9. Ethical Considerations in Screening Informed Decision-making: Empower individuals with accurate information to make choices. Equity: Ensure equal access regardless of socio-economic or geographic barriers. Confidentiality: Respect privacy and use data responsibly. 10. Evaluation of Screening Programs Why Evaluate?: Assess effectiveness in reducing morbidity and mortality. Ensure resource efficiency. Monitor for unintended consequences (e.g., overdiagnosis). Metrics: 1. Coverage: Proportion of eligible population screened. Resume for Exam 22 2. Outcome Measures: Reduction in disease incidence or severity. 3. Cost-effectiveness: Balance of program benefits versus expenses. Case Study: Tuberculosis Screening 1. Problem: TB incidence in prisons is 10× higher than in the general population. 2. Methodology: Automated chest X-rays for initial screening. Positive cases confirmed using molecular diagnostics. 3. Outcomes: High sensitivity (90%) with AI-based tools. Limitations in specificity for individuals with prior TB or certain risk factors. Summary Table: Aspect Details Identify individuals at higher risk for a condition through systematic Definition testing. Key Objectives Reduce mortality, incidence, and severity; provide early intervention. Types of Population, individual, occupational, school-based. Screening Benefits Early detection, better outcomes, economic savings. Risks False positives/negatives, overdiagnosis, procedural risks. Evaluation Coverage, outcome measures, cost-effectiveness. Neural Tube Defects (NTDs) Neural tube defects (NTDs) are a group of congenital malformations that result from the incomplete closure of the neural tube during embryonic development. The neural tube is the precursor to the brain and spinal cord, and its closure is typically complete by the 4th week of gestation (day 28 post-fertilization). 1. Types of Neural Tube Defects Resume for Exam 23 NTDs can affect different parts of the neural tube and range in severity. The most common types are: 1.1. Spina Bifida Failure of the posterior portion of the neural tube to close, leading to malformations of the spine and spinal cord. Subtypes: Spina Bifida Occulta: The mildest form, with no visible protrusion. The vertebrae are incompletely formed, but the spinal cord remains intact. Often asymptomatic; may present with a tuft of hair or skin dimple over the affected area. Meningocele: Meninges protrude through the vertebral defect but do not involve the spinal cord. Neurological symptoms are often mild or absent. Myelomeningocele: The most severe form, where meninges and spinal cord protrude through the vertebral defect. Associated with significant neurological deficits (e.g., paralysis, incontinence). 1.2. Anencephaly Failure of the anterior neural tube to close, resulting in the absence of a major portion of the brain, skull, and scalp. Fatal condition; infants are often stillborn or die shortly after birth. 1.3. Encephalocele Herniation of brain tissue and meninges through a skull defect, often in the occipital region. Severity varies depending on the size and location of the defect. 1.4. Craniorachischisis Resume for Exam 24 The most severe form, where the entire neural tube remains open, affecting the brain and spinal cord. Incompatible with life. 2. Epidemiology Prevalence: NTDs occur in approximately 1–2 per 1,000 live births worldwide, though prevalence varies by region. Higher rates are observed in areas with folate deficiency and poor maternal nutrition. 3. Pathophysiology During early embryonic development, the neural plate folds to form the neural tube. Failure of closure at specific sites results in the various NTDs: Cranial end: Leads to anencephaly or encephalocele. Caudal end: Leads to spina bifida. Causes of failed closure include genetic, environmental, and nutritional factors. 4. Risk Factors Genetic Factors: Mutations or variations in genes involved in folate metabolism (e.g., MTHFR mutation). Familial recurrence of NTDs. Nutritional Deficiency: Folic acid deficiency is the most significant modifiable risk factor. Environmental Factors: Maternal diabetes. Obesity. Exposure to teratogens (e.g., antiepileptic drugs like valproic acid, alcohol, certain infections). Hyperthermia (e.g., fever or use of hot tubs during early pregnancy). Resume for Exam 25 5. Diagnosis Prenatal Diagnosis: 1. Maternal Serum Screening: Elevated alpha-fetoprotein (AFP) levels suggest an open neural tube defect. Abnormal levels of other markers (e.g., hCG, estriol) in a quadruple screen may also indicate NTDs. 2. Ultrasound: High-resolution ultrasound can visualize structural abnormalities. Detects spina bifida, anencephaly, or encephalocele. 3. Amniocentesis: Elevated AFP and acetylcholinesterase levels in the amniotic fluid confirm an open neural tube defect. 6. Prevention 1. Folic Acid Supplementation: The most effective preventive strategy. Recommended dose: 400 µg/day for all women of childbearing age. 4 mg/day for women with a history of NTD-affected pregnancies or at high risk. Start supplementation before conception and continue through the first trimester. 2. Lifestyle Modifications: Optimize maternal health (e.g., control diabetes, reduce obesity). Avoid teratogens and high temperatures during early pregnancy. 3. Genetic Counseling: Recommended for families with a history of NTDs or other congenital anomalies. Resume for Exam 26 7. Management Prenatal: Fetal surgery for myelomeningocele can improve neurological outcomes and reduce complications like hydrocephalus. Postnatal: Surgical repair of open defects (e.g., spina bifida). Supportive care for complications: Physical therapy for motor deficits. Bladder and bowel management. Ventriculoperitoneal shunting for hydrocephalus. Palliative Care: For conditions incompatible with life, such as anencephaly. 8. Complications 1. Neurological: Paralysis or motor deficits. Hydrocephalus. Seizures. 2. Urological: Urinary incontinence or neurogenic bladder. 3. Orthopedic: Scoliosis, hip dislocation, or foot deformities. 4. Cognitive and Developmental: Learning disabilities or developmental delays in severe cases. Summary Table: Type Defect Key Features Spina Bifida Posterior neural tube Includes occulta, meningocele, closure myelomeningocele; associated with Resume for Exam 27 neurological deficits. Anterior neural tube Anencephaly Absence of brain and skull; fatal condition. closure Herniation of brain tissue and meninges; Encephalocele Skull defect variable severity. Entire neural tube Craniorachischisis Severe and incompatible with life. remains open Key Points 1. NTDs result from incomplete neural tube closure during early embryonic development. 2. Folic acid supplementation is critical for prevention. 3. Prenatal diagnosis via AFP, ultrasound, and amniocentesis is essential for early detection. 4. Management includes surgical repair, supportive care, and, in some cases, palliative care. Neural tube defects are preventable and manageable with early intervention and appropriate care. Pregnancy: First Trimester The first trimester spans the first 13 weeks of gestation and represents a crucial period for embryonic development, maternal adaptations, and the establishment of prenatal care. This phase is marked by rapid cellular differentiation, the development of all major organ systems, and significant physiological changes in the mother to support the pregnancy. 1. Timeline of Human Embryonic Development Embryonic development follows a structured timeline of events, laying the foundation for organogenesis and fetal growth. Key Stages of Development: 1. Fertilization (Day 0): The sperm penetrates the ovum in the ampulla of the fallopian tube, forming a zygote (single-cell embryo). Resume for Exam 28 2. Cleavage and Morula Formation (Days 1–4): The zygote undergoes rapid mitotic divisions to form a morula (solid ball of cells). 3. Blastocyst Formation (Days 5–6): The morula differentiates into a blastocyst, which contains: Inner cell mass: Becomes the embryo. Trophoblast: Becomes the placenta. 4. Implantation (Days 6–10): The blastocyst embeds into the uterine endometrium. The syncytiotrophoblast secretes human chorionic gonadotropin (hCG) to maintain the corpus luteum. 5. Gastrulation (Week 3): Formation of three germ layers: Ectoderm: Nervous system, skin. Mesoderm: Muscles, bones, cardiovascular system. Endoderm: Digestive and respiratory systems. 6. Neurulation (Weeks 3–4): Formation of the neural tube, which develops into the brain and spinal cord. 7. Organogenesis (Weeks 4–8): Development of major organ systems. Heart: Begins beating around Day 22. Limbs: Buds appear by Week 5. Eyes and ears: Form by Week 7. 8. Fetal Period (Weeks 9–13): Transition from embryo to fetus. Organs continue to mature, and growth accelerates. 2. Pregnancy Definition: Resume for Exam 29 Pregnancy is defined as the physiological state of carrying a developing embryo or fetus within the uterus, lasting approximately 40 weeks (280 days) from the last menstrual period (LMP). Diagnosis of Pregnancy: 1. Clinical Features: Presumptive Signs: Amenorrhea (missed period). Nausea and vomiting (morning sickness). Breast tenderness and enlargement. Fatigue and increased urinary frequency. Probable Signs: Positive pregnancy test (presence of hCG). Softening of the cervix (Goodell's sign). Bluish discoloration of the vagina and cervix (Chadwick's sign). Enlarged, softened uterus (Hegar's sign). Positive Signs: Visualization of the gestational sac or fetal pole on ultrasound. Detection of fetal heart tones (Week 6–7 via transvaginal ultrasound). 2. Pregnancy Tests: Urine Pregnancy Test: Detects hCG as early as 10–14 days after conception. High sensitivity but requires confirmatory testing. Serum hCG: Quantitative levels can confirm early pregnancy and assess viability. Doubling of hCG every 48–72 hours is a sign of healthy pregnancy. Resume for Exam 30 3. Ultrasound: Transvaginal ultrasound is the gold standard for confirming pregnancy. Gestational sac visible by 5 weeks of gestation. Fetal pole and cardiac activity detected by 6–7 weeks. Hormonal Changes in Pregnancy: 1. Human Chorionic Gonadotropin (hCG): Maintains the corpus luteum and progesterone secretion. Peaks at Week 10, then declines as the placenta takes over hormone production. 2. Progesterone: Prevents uterine contractions. Maintains the endometrium and supports early pregnancy. 3. Estrogen: Promotes uterine and breast tissue growth. 4. Relaxin: Relaxes pelvic ligaments and softens the cervix. Maternal Physiological Changes: Cardiovascular: Increased blood volume (~50%), cardiac output, and heart rate. Respiratory: Increased tidal volume and oxygen demand. Resume for Exam 31 Metabolic: Higher basal metabolic rate (BMR) and glucose utilization. Gastrointestinal: Delayed gastric emptying; nausea and vomiting are common. 3. Multiple Pregnancy A multiple pregnancy occurs when more than one embryo implants in the uterus. Twins are the most common type. Types of Twins: 1. Dizygotic (Fraternal): Two separate eggs fertilized by two different sperm. Each twin has its own placenta and amniotic sac. Accounts for 70% of twin pregnancies. 2. Monozygotic (Identical): A single fertilized egg splits into two embryos. Types depend on the timing of the split: Dichorionic Diamniotic: Early split; separate placentas and sacs. Monochorionic Diamniotic: Shared placenta, separate sacs. Monochorionic Monoamniotic: Shared placenta and sac. Complications of Multiple Pregnancy: Increased risk of: Preterm birth. Gestational hypertension and preeclampsia. Twin-to-twin transfusion syndrome (TTTS) in monochorionic twins. Intrauterine growth restriction (IUGR). 4. Prenatal Care Importance: Prenatal care is essential for monitoring maternal and fetal health, identifying complications early, and ensuring proper education and support for the mother. First Prenatal Visit: Resume for Exam 32 Occurs around 6–8 weeks gestation and includes: 1. Comprehensive History: Medical, obstetric, and family history. Assess risk factors (e.g., advanced maternal age, genetic disorders). 2. Physical Examination: Assess uterine size and confirm pregnancy signs. 3. Laboratory Tests: Blood type and Rh status. Complete blood count (CBC). Screening for infections: HIV, syphilis, rubella, hepatitis B, and toxoplasmosis. Thyroid function and glucose screening for diabetes. 4. Ultrasound: Confirms gestational age, fetal viability, and detects multiple pregnancies. 5. Genetic Screening: Non-invasive prenatal testing (NIPT) for chromosomal abnormalities. First-trimester combined screening (nuchal translucency + serum markers). Lifestyle Counseling: 1. Nutrition: Include folic acid (400 µg/day) to prevent neural tube defects. Adequate iron, calcium, and vitamin D intake. 2. Avoid Harmful Substances: No alcohol, tobacco, or recreational drugs. 3. Exercise: Moderate activity is encouraged unless contraindicated. 4. Vaccinations: Update Tdap (tetanus, diphtheria, pertussis), influenza, and COVID-19 vaccines. Resume for Exam 33 Management of Common First Trimester Symptoms: 1. Nausea and Vomiting: Due to high hCG and progesterone levels. Management: Small frequent meals, ginger, vitamin B6. 2. Fatigue: Encourage rest and balanced nutrition. 3. Spotting: Often benign but requires evaluation to rule out ectopic pregnancy or miscarriage. Summary Table Aspect Details Fertilization → Implantation → Gastrulation → Organogenesis → Fetal Timeline phase Pregnancy Positive hCG, ultrasound confirmation of gestational sac and heartbeat Diagnosis Hormonal hCG, progesterone, estrogen, relaxin support pregnancy maintenance Changes Multiple Dizygotic (fraternal) vs. Monozygotic (identical); risks include TTTS Pregnancy Prenatal Care Early visits, lifestyle counseling, lab tests, genetic screening First Trimester Morning sickness, fatigue, spotting Symptoms Miscarriage (Spontaneous Abortion) Miscarriage, also known as spontaneous abortion, is the loss of a pregnancy before 20 weeks of gestation. It is the most common complication of early pregnancy, affecting approximately 10-20% of confirmed pregnancies. Most miscarriages occur in the first trimester. 1. Types of Miscarriage 1.1. Threatened Miscarriage: Resume for Exam 34 Definition: Bleeding occurs in early pregnancy, but the cervix remains closed, and the pregnancy may continue. Symptoms: Vaginal bleeding, often light. Mild abdominal cramping. Diagnosis: Ultrasound shows a live fetus with cardiac activity. Closed cervix on pelvic examination. 1.2. Inevitable Miscarriage: Definition: Miscarriage is imminent due to cervical dilation and/or rupture of membranes. Symptoms: Heavy vaginal bleeding. Painful cramping. Open cervix. Diagnosis: Ultrasound may show a viable or non-viable pregnancy. 1.3. Incomplete Miscarriage: Definition: Some pregnancy tissue has been expelled, but some remains in the uterus. Symptoms: Heavy bleeding. Severe abdominal pain. Diagnosis: Ultrasound shows retained products of conception. Open cervix. 1.4. Complete Miscarriage: Definition: All pregnancy tissue has been expelled from the uterus. Symptoms: Resume for Exam 35 Bleeding and cramping subside. Closed cervix after passage of tissue. Diagnosis: Ultrasound shows an empty uterus. 1.5. Missed Miscarriage: Definition: The fetus has died, but the products of conception remain in the uterus without symptoms of miscarriage. Symptoms: No vaginal bleeding. Loss of pregnancy symptoms (e.g., nausea, breast tenderness). Diagnosis: Ultrasound shows no cardiac activity or an empty gestational sac. Closed cervix. 1.6. Recurrent Miscarriage: Definition: Loss of three or more consecutive pregnancies. Etiology: Genetic abnormalities. Anatomical issues (e.g., uterine septum, fibroids). Hormonal or immunological disorders. 2. Causes of Miscarriage 2.1. Fetal Causes: 1. Chromosomal Abnormalities (50-70% of cases): Most common cause of first-trimester miscarriages. Examples: Trisomies (e.g., Down syndrome), monosomy X (Turner syndrome). 2.2. Maternal Causes: 1. Infections: Resume for Exam 36 TORCH infections (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes). Bacterial infections (e.g., Listeria). 2. Anatomical Abnormalities: Uterine anomalies (e.g., septate uterus, bicornuate uterus). Cervical insufficiency. 3. Hormonal Disorders: Uncontrolled diabetes. Thyroid disorders (hypothyroidism or hyperthyroidism). Polycystic ovary syndrome (PCOS). 4. Autoimmune Disorders: Antiphospholipid syndrome. Systemic lupus erythematosus (SLE). 5. Lifestyle Factors: Smoking, alcohol consumption, recreational drug use. High caffeine intake. 6. Advanced Maternal Age: Increased risk with age >35 years due to higher likelihood of chromosomal abnormalities. 2.3. Environmental Causes: Exposure to teratogens (e.g., radiation, chemicals). Trauma. 3. Diagnosis of Miscarriage Clinical Features: 1. Symptoms: Vaginal bleeding (light spotting to heavy bleeding). Cramping or abdominal pain. Passage of tissue or clots. 2. Physical Examination: Resume for Exam 37 Evaluate vaginal bleeding. Assess for cervical dilation or tissue at the cervical os. Imaging: Ultrasound: Confirms gestational age and viability. Findings: Absence of fetal cardiac activity. Irregular or collapsed gestational sac. Empty uterus in complete miscarriage. Laboratory Tests: 1. Beta-hCG Levels: Declining or plateauing hCG levels suggest a non-viable pregnancy. 2. Complete Blood Count (CBC): Assesses for anemia or infection. 3. Coagulation Profile: Rule out disseminated intravascular coagulation (DIC) in cases of severe bleeding. 4. Management of Miscarriage 4.1. Expectant Management: Allow the pregnancy tissue to pass naturally without intervention. Suitable for incomplete or missed miscarriages in stable patients. 4.2. Medical Management: Medications: Misoprostol: Induces uterine contractions to expel retained tissue. Mifepristone (in some cases): Prepares the uterus for expulsion. Indications: Missed or incomplete miscarriage. Resume for Exam 38 4.3. Surgical Management: 1. Dilation and Curettage (D&C): Removes retained products of conception. Indicated for heavy bleeding, infection, or patient preference. 2. Manual Vacuum Aspiration (MVA): Less invasive than D&C and suitable for early gestation. 4.4. Emotional and Psychological Support: Miscarriage often causes significant emotional distress. Offer grief counseling and support groups. 5. Complications of Miscarriage 1. Hemorrhage: Heavy bleeding requiring transfusion in severe cases. 2. Infection: Risk of septic miscarriage if tissue remains in the uterus. Symptoms: Fever, pelvic pain, foul-smelling discharge. 3. Asherman Syndrome: Uterine adhesions due to excessive curettage, leading to infertility. 4. Emotional Impact: Anxiety, depression, or post-traumatic stress disorder (PTSD) are common. 6. Prevention of Miscarriage 1. Prenatal Care: Early and regular visits to monitor maternal and fetal health. 2. Lifestyle Modifications: Avoid smoking, alcohol, and excessive caffeine. Maintain a healthy diet and exercise routine. 3. Medical Management: Treat underlying conditions (e.g., diabetes, thyroid disorders). Resume for Exam 39 Prophylactic cerclage for cervical insufficiency. 4. Folic Acid Supplementation: Reduces the risk of neural tube defects and miscarriage. 5. Genetic Counseling: Recommended for couples with recurrent miscarriages. Summary Table Type of Miscarriage Key Features Vaginal bleeding, closed cervix, viable pregnancy on Threatened ultrasound Inevitable Bleeding with open cervix, non-viable pregnancy Incomplete Partial expulsion of pregnancy tissue, open cervix Complete Full expulsion of tissue, bleeding resolves, closed cervix Missed No symptoms; non-viable pregnancy retained in uterus Recurrent Three or more consecutive losses First Trimester Care The first trimester of pregnancy, spanning up to 13 weeks of gestation, is a crucial period for identifying and managing potential maternal and fetal complications. Proper care includes screening tests, genetic evaluations, and, when indicated, diagnostic procedures. Screening Tests Definition: Screening tests assess the risk of certain conditions in asymptomatic pregnant women. They are non-invasive and aim to identify high-risk pregnancies requiring further investigation or intervention. First Trimester Screening Tests Screening during the first trimester focuses on maternal health, fetal well-being, and detecting chromosomal or structural abnormalities. Resume for Exam 40 1. Maternal Screening Tests: 1. Complete Blood Count (CBC): Screens for anemia, platelet disorders, and infections. Focus on hemoglobin, hematocrit, and mean corpuscular volume (MCV). 2. Blood Group and Rh Factor: Determines maternal blood type and identifies Rh-negative women at risk for Rh isoimmunization. 3. Infection Screening: HIV, Hepatitis B, and Syphilis (VDRL): Mandatory in many guidelines. Rubella immunity: Check for susceptibility to prevent congenital rubella syndrome. Toxoplasmosis: Assessed in regions with a high prevalence of infection. 4. Urinalysis and Urine Culture: Detects asymptomatic bacteriuria, urinary tract infections, and proteinuria. 5. Thyroid Function Tests: Assesses thyroid-stimulating hormone (TSH) levels to detect hypothyroidism or hyperthyroidism. 6. Diabetes Screening: High-risk women may undergo early glucose testing for gestational diabetes. 2. Fetal Screening Tests: 1. Ultrasound: Performed between 11–13 weeks. Confirms gestational age and fetal viability. Measures nuchal translucency (NT) thickness: Increased NT suggests a higher risk for chromosomal abnormalities (e.g., Down syndrome) or congenital heart defects. 2. Serum Biomarkers: Blood tests are combined with NT measurements for more accurate risk assessment. Resume for Exam 41 Beta-hCG: High levels are associated with trisomy 21 (Down syndrome). Pregnancy-Associated Plasma Protein A (PAPP-A): Low levels are linked to trisomy 21 and placental insufficiency. 3. Combined First-Trimester Screening: Combines NT, beta-hCG, and PAPP-A to calculate the risk of trisomies 21, 18, and 13. Mid-Trimester Screening Tests (Second Trimester) Screening in the second trimester (14–27 weeks) complements first-trimester testing and focuses on structural and chromosomal abnormalities. 1. Maternal Serum Quadruple Test: Performed between 15–20 weeks. Measures four markers: 1. Alpha-fetoprotein (AFP): High levels suggest neural tube defects or abdominal wall defects. Low levels may indicate trisomy 21. 2. Unconjugated Estriol (uE3): Reduced in chromosomal abnormalities. 3. hCG: Elevated in trisomy 21. 4. Inhibin A: Elevated in trisomy 21. 2. Ultrasound Anatomy Scan: Conducted at 18–22 weeks. Assesses: Fetal growth and development. Structural anomalies (e.g., spina bifida, heart defects). Placental position. Resume for Exam 42 Genetic Screening: Non-Invasive Prenatal Screening Test (NIPT) Definition: NIPT analyzes cell-free fetal DNA (cffDNA) circulating in the maternal blood. It is a highly accurate screening tool for chromosomal abnormalities. Timing: Performed from 10 weeks of gestation. Conditions Detected: 1. Trisomies: Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome). 2. Sex Chromosome Abnormalities: Monosomy X (Turner syndrome), Klinefelter syndrome (XXY). 3. Microdeletion Syndromes: Less commonly screened but possible (e.g., DiGeorge syndrome). Advantages: High sensitivity and specificity (>99% for trisomy 21). Non-invasive with no risk of miscarriage. Limitations: Cannot detect all genetic conditions. False positives or negatives can occur, requiring confirmatory testing. Diagnostic Tests (Invasive Procedures) When screening tests indicate a high risk for chromosomal abnormalities or genetic disorders, diagnostic tests confirm the diagnosis. These tests involve direct sampling of fetal cells or amniotic fluid. 1. Chorionic Villus Sampling (CVS): Performed at 10–13 weeks. Resume for Exam 43 Involves biopsy of chorionic villi (placental tissue) via transabdominal or transcervical approach. Advantages: Provides early diagnosis of chromosomal or genetic conditions. Risks: Miscarriage (~0.5–1% risk). Maternal-fetal hemorrhage. 2. Amniocentesis: Performed between 15–20 weeks. Involves sampling of amniotic fluid via a needle inserted through the maternal abdomen. Conditions Detected: Chromosomal abnormalities. Neural tube defects (via AFP levels). Genetic disorders (e.g., cystic fibrosis). Risks: Miscarriage (~0.1–0.3% risk). Infection or leakage of amniotic fluid. 3. Fetal Blood Sampling (Cordocentesis): Performed after 18 weeks. Involves sampling blood from the umbilical cord. Used for: Fetal anemia. Blood group incompatibility. Genetic conditions not detectable by CVS or amniocentesis. Risks: Higher miscarriage risk (~1–2%). Summary Table Resume for Exam 44 Test Type Timing Purpose Risks First-Trimester Detect chromosomal Minimal (non- Up to 13 weeks Tests abnormalities (NT, PAPP-A, hCG) invasive) Mid-Trimester Detect structural anomalies and Minimal (non- 14–22 weeks Tests confirm risk for NTDs, trisomies invasive) Screen for trisomies, sex Minimal (non- NIPT From 10 weeks chromosome abnormalities invasive) Confirm chromosomal or genetic CVS 10–13 weeks Miscarriage (~1%) abnormalities Confirm chromosomal or neural Miscarriage Amniocentesis 15–20 weeks tube abnormalities (~0.3%) Evaluate fetal anemia, genetic Miscarriage Cordocentesis After 18 weeks disorders (~2%) Key Points 1. First trimester care focuses on identifying maternal risks, chromosomal abnormalities, and structural anomalies through non-invasive screening tests. 2. Mid-trimester screening supplements first-trimester findings with tests for neural tube defects and structural abnormalities. 3. Genetic screening (NIPT) offers a high-accuracy, low-risk option for detecting major chromosomal disorders. 4. Diagnostic tests (CVS, amniocentesis) are invasive but confirm chromosomal and genetic abnormalities with high precision. 5. Regular prenatal care ensures early detection and management of maternal and fetal complications. Chromosomal Aberrations Chromosomal aberrations are abnormalities in the structure or number of chromosomes, leading to congenital disorders or developmental delays. These anomalies can be numerical (extra or missing chromosomes) or structural (deletions, duplications, translocations). Trisomies are among the most common numerical abnormalities, where an individual has three copies of a chromosome instead of the usual two. Trisomy 21 (Down Syndrome) Resume for Exam 45 Definition: Trisomy 21, also known as Down syndrome, is caused by the presence of an extra copy of chromosome 21. Epidemiology: Prevalence: ~1 in 700 live births. Strongly associated with advanced maternal age: Risk increases significantly after age 35. Pathophysiology: Most cases are due to non-disjunction during meiosis. Rare cases involve mosaicism or Robertsonian translocation. Clinical Features: 1. Craniofacial Features: Flat facial profile. Epicanthic folds (skin folds of the upper eyelid). Small ears, upslanting palpebral fissures. Protruding tongue and small mouth. 2. Musculoskeletal: Hypotonia (low muscle tone). Short stature. Single palmar crease (Simian crease). 3. Neurological: Intellectual disability (mild to moderate). Delayed milestones. Increased risk of early-onset Alzheimer’s disease. 4. Cardiac: Congenital heart defects (40-50%): Atrioventricular septal defect (AVSD) is most common. 5. Gastrointestinal: Resume for Exam 46 Duodenal atresia or stenosis. Hirschsprung’s disease. 6. Other: Increased risk of acute leukemia. Hypothyroidism. Recurrent infections due to immune system dysfunction. Diagnosis: 1. Prenatal Screening: First-trimester screening: Nuchal translucency + PAPP-A + hCG. NIPT: Detects extra chromosome 21 in cell-free fetal DNA. 2. Diagnostic Tests: Chorionic villus sampling (CVS) or amniocentesis for karyotyping. 3. Postnatal: Clinical examination and confirmatory karyotyping. Management: No cure; treatment focuses on symptom management and improving quality of life. Early intervention programs for developmental support. Surgery for congenital heart defects. Regular screening for associated conditions (e.g., hypothyroidism, leukemia). Trisomy 18 (Edwards Syndrome) Definition: Trisomy 18, or Edwards syndrome, results from an extra copy of chromosome 18. Epidemiology: Prevalence: ~1 in 5,000 live births. More common in pregnancies of advanced maternal age. High mortality rate: Most infants die within the first year of life. Resume for Exam 47 Pathophysiology: Caused by non-disjunction during meiosis. Rare cases involve mosaicism. Clinical Features: 1. Craniofacial Features: Micrognathia (small jaw). Low-set ears. Prominent occiput. 2. Musculoskeletal: Clenched fists with overlapping fingers. Rocker-bottom feet. Growth restriction (intrauterine and postnatal). 3. Neurological: Severe intellectual disability. Hypertonia (increased muscle tone). 4. Cardiac: Congenital heart defects (e.g., ventricular septal defect, patent ductus arteriosus). 5. Other: Renal anomalies. Omphalocele. High susceptibility to infections. Diagnosis: 1. Prenatal Screening: Low PAPP-A and hCG in first-trimester screening. Abnormal quad screen (low AFP, hCG, and estriol). NIPT detects trisomy 18. 2. Diagnostic Tests: Resume for Exam 48 Confirmed via CVS or amniocentesis. Management: Supportive care focuses on comfort measures due to poor prognosis. Intensive interventions are rarely pursued due to severe complications. Trisomy 13 (Patau Syndrome) Definition: Trisomy 13, or Patau syndrome, results from an extra copy of chromosome 13. Epidemiology: Prevalence: ~1 in 10,000 live births. Associated with advanced maternal age. High mortality rate: ~90% of affected infants die within the first year. Pathophysiology: Typically caused by non-disjunction during meiosis. Rare cases involve translocations or mosaicism. Clinical Features: 1. Craniofacial Features: Microphthalmia (small eyes) or anophthalmia (absent eyes). Cleft lip and/or cleft palate. Holoprosencephaly (failure of brain hemispheres to separate). 2. Musculoskeletal: Polydactyly (extra digits). Rocker-bottom feet. 3. Neurological: Profound intellectual disability. Seizures. 4. Cardiac: Resume for Exam 49 Congenital heart defects (e.g., atrial septal defect, patent ductus arteriosus). 5. Renal: Polycystic kidneys or renal agenesis. 6. Other: Omphalocele. Scalp defects. Diagnosis: 1. Prenatal Screening: First-trimester screening shows low PAPP-A and abnormal NT. NIPT detects trisomy 13. 2. Diagnostic Tests: Karyotyping through CVS or amniocentesis. 3. Postnatal: Clinical examination and genetic confirmation. Management: Supportive care with a focus on comfort. Palliative care is the mainstay due to severe systemic involvement. Summary Table Condition Cause Prevalence Key Features Prognosis Intellectual disability, Extra congenital heart Survival into Trisomy 21 1 in 700 chromosome 21 defects, adulthood characteristic facial features Severe growth Extra restriction, High mortality Trisomy 18 1 in 5,000 chromosome 18 clenched fists, in 1st year cardiac defects Resume for Exam 50 Holoprosencephaly, cleft lip/palate, Extra High mortality Trisomy 13 1 in 10,000 polydactyly, severe chromosome 13 in 1st year intellectual disability Key Points Trisomy 21 (Down syndrome): The most common trisomy; associated with a spectrum of physical, cognitive, and medical complications. Trisomy 18 (Edwards syndrome): Characterized by severe growth restriction, congenital abnormalities, and high mortality. Trisomy 13 (Patau syndrome): Associated with profound neurological and physical abnormalities, often incompatible with prolonged survival. Early prenatal screening and diagnostic testing are crucial for risk assessment and decision-making regarding care. Termination of Pregnancy Termination of pregnancy (TOP) refers to the deliberate medical or surgical intervention to end a pregnancy. It can be elective (by choice) or therapeutic (due to medical necessity), and its legality, methods, and access vary across countries. 1. Medical Abortion Definition: A non-surgical method of terminating a pregnancy using medications. Typically performed in early pregnancy, up to 9–10 weeks gestation in many countries. Medications: 1. Mifepristone (RU-486): An anti-progesterone drug that blocks progesterone, leading to detachment of the pregnancy from the uterine wall. Administered orally. 2. Misoprostol: Resume for Exam 51 A prostaglandin analog that induces uterine contractions, leading to expulsion of the pregnancy tissue. Administered buccally, vaginally, or orally 24–48 hours after mifepristone. Procedure: 1. Patient takes mifepristone under medical supervision. 2. After 24–48 hours, misoprostol is taken to complete the abortion. 3. Follow-up: Clinical assessment and/or ultrasound 1–2 weeks later to confirm complete expulsion. Advantages: Non-invasive. Can be done in the privacy of one’s home. Avoids surgical risks. Disadvantages: Prolonged bleeding (up to 2 weeks). Cramping and discomfort. Risk of incomplete abortion (~5–10%), requiring further intervention. Contraindications: Ectopic pregnancy. Severe anemia. Coagulopathies or anticoagulant use. Advanced gestational age beyond guidelines. 2. Surgical Abortion Definition: A procedure to terminate a pregnancy through mechanical removal of the pregnancy tissue from the uterus. Typically performed after 9 weeks gestation or earlier if preferred. Resume for Exam 52 Methods: 1. Manual Vacuum Aspiration (MVA): Performed up to 12–14 weeks gestation. Involves suctioning the uterine contents using a manual vacuum device. 2. Dilation and Curettage (D&C): Performed in the first and early second trimester. Involves dilation of the cervix and removal of uterine contents with a curette. 3. Dilation and Evacuation (D&E): Performed in the second trimester (14–24 weeks). Combines dilation with mechanical and suction evacuation. Procedure: 1. Pre-procedure preparation: Cervical dilation using medications (misoprostol) or mechanical dilators. 2. Anesthesia: Local, regional, or general anesthesia. 3. Evacuation: Removal of pregnancy tissue through suction or curettage. Advantages: Quick procedure (10–15 minutes). Immediate completion. Minimal bleeding compared to medical abortion. Disadvantages: Invasive with a small risk of complications. Requires skilled personnel and equipment. Complications: Uterine perforation (300 mg/24 hours). 2. Severe Preeclampsia: Severe hypertension (≥160/110 mmHg). Evidence of end-organ damage: Pulmonary edema. Severe headache or visual disturbances. Elevated liver enzymes, low platelets (HELLP syndrome). Diagnosis: Resume for Exam 61 1. Blood Pressure: ≥140/90 mmHg on two occasions at least 4 hours apart. 2. Proteinuria: ≥300 mg/24-hour urine collection or protein/creatinine ratio ≥0.3. 3. Additional Signs: Thrombocytopenia (1.1 mg/dL. Management: 1. Mild Cases: Monitor maternal and fetal status. Deliver at 37 weeks. 2. Severe Cases: Hospitalization and antihypertensive therapy (labetalol, nifedipine). Magnesium sulfate for seizure prophylaxis. Delivery as soon as maternal or fetal conditions worsen (≥34 weeks if stable). Complications: Maternal: Eclampsia (seizures), stroke, HELLP syndrome. Fetal: Fetal growth restriction (FGR), preterm birth, stillbirth. Fetal Growth Restriction (FGR) Definition: Fetal Growth Restriction (FGR), also known as Intrauterine Growth Restriction (IUGR), occurs when the fetus does not reach its genetic growth potential, usually below the 10th percentile for gestational age. Causes: 1. Maternal: Resume for Exam 62 Preeclampsia, smoking, malnutrition. 2. Placental: Placental insufficiency, abnormal spiral artery remodeling. 3. Fetal: Chromosomal abnormalities, congenital infections (e.g., TORCH). Types: 1. Symmetrical FGR: Proportional reduction in growth. Caused by early insult (e.g., genetic abnormalities, infections). 2. Asymmetrical FGR: Head circumference preserved relative to abdominal size. Caused by placental insufficiency. Diagnosis: 1. Ultrasound: Estimated fetal weight