Questions and Answers
What is the recommended daily intake of folic acid for women of childbearing age?
Which factors are risk factors for congenital disorders?
What is Cri-du-chat syndrome caused by?
Missing portion of chromosome 5
What is the defining characteristic of Klinefelter syndrome?
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Turner syndrome is characterized by the presence of two functional X chromosomes.
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Which syndrome is also known as Down syndrome?
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The incidence of Patau syndrome is approximately ___ per 1,000 live births.
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What are the clinical manifestations of Turner syndrome?
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What entity is at greater risk for Fragile X syndrome?
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What is procreation?
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What is creation in the context of procreative health?
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What does reproduction encompass?
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Evolutionary theory assumes that life came into existence through random actions of natural selection.
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Which of the following is a theory related to procreation?
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What is meant by the term 'Coolidge Effect' in sexual response?
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What is DNA?
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What are chromosomes?
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In Mendelian inheritance, homozygous dominant x homozygous __________ results in offspring all being homozygous dominant.
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Autosomal recessive inheritance requires two genes for the disease to be present.
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What is the primary risk factor that will lead to genetic disorders?
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What is amniocentesis?
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What does karyotyping involve?
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Study Notes
Procreative Health
- Procreation involves the comprehensive reproductive process resulting in offspring from sexual intercourse between a man and a woman.
- Creation refers to the divine act of bringing all things into existence by God.
- Reproduction encompasses cellular and genetic activities through which organisms produce similar offspring, ensuring species continuity.
- Evolutionary theory posits that natural selection drives the development of complex organisms from primitive life, requiring extensive timescales.
Theories Related to Procreation
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Christian Theory of Procreation: Man is made in God’s likeness, tasked with multiplying. Pope Paul VI emphasizes limited dominion over one's body, including sexual faculties.
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Monogenetic Theory: Portrays men as the sole originators of life, suggesting sperm carries pre-formed fetuses.
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Duogenetic Theory: Advocates for equal contribution from both sexes, where the fetus is formed from the union of a woman’s ovum and a man’s sperm.
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Clement of Alexandria’s View: Conception occurs when sperm mingles with menstrual residue.
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Aristotle's Conception Theory: Suggests male sperm initiates embryonic development without contributing materially.
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Theory of Evolution: Emphasizes genetic recombination through sexual reproduction as a means to adapt and survive against natural selection.
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Red Queen Hypothesis: Proposes greater genetic variation through sexual reproduction grants resistance to rapidly evolving diseases and parasites.
Process of Human Reproduction
- Sexual intercourse
- Pregnancy
- Birth
- Parental care
Phases of Human Sexual Response (Masters and Johnson)
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Excitement:
- Women: Clitoral engorgement, vaginal lubrication, nipple erection, and breast enlargement.
- Men: Penile erection, increased scrotal tension, and nipple erection.
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Plateau:
- Women: Swelling of breasts and "orgasmic platform," retraction of the clitoris, and cervical enlargement.
- Men: Pre-ejaculatory secretion and complete erection.
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Orgasm:
- Characterized by rhythmic muscle contractions. Women experience contractions; men reach ejaculatory inevitability leading to ejaculation.
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Resolution:
- Internal and external genital organs return to a non-aroused state, with potential for multiple orgasms or refractory periods.
Introduction to Genetics
- DNA: Composed of deoxyribose, a phosphate group, and nitrogen bases; essential for protein synthesis and replication.
- Gene: Rod-shaped structures in the nucleus determining sex and characteristics, present in pairs from parents.
- Chromosomes: Carries hereditary information; structure defined as DNA → RNA → Proteins.
Genetic Terminology
- Alleles: Dominant (A) and recessive (a) variations that form combinations such as AA, Aa, or aa.
- Mendelian Inheritance: Various inheritance patterns involving dominant and recessive traits.
Inheritance of Disease
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Autosomal Dominant: Presence of a dominant gene leads to disorder regardless of sex and shows vertical transmission in family history.
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Autosomal Recessive: Requires two recessive genes; carriers are typically unaffected, may show familial connections.
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X-Linked Dominant: Affected gene on X chromosome, all affected daughters from affected fathers, appears in every generation.
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X-Linked Recessive: Primarily affects males with females as carriers; presents challenges in inheritance patterns.
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Multifactorial or Polygenic Inheritance: Disorders arise from multiple genes and environmental factors.
Risk Factors for Genetic Disorders
- Family history of genetic diseases.
- Maternal age and environmental exposure.
- History of miscarriages or congenital defects in previous children.
Common Assessment Tests for Genetic Abnormalities
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Family History: Assess maternal age, past births with defects, and family health history.
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Physical Assessment: Notable physical signs indicating chromosomal disorders like Down syndrome or Turner syndrome.
Diagnostics and Screening Tests
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Karyotyping: Visual representation of chromosome patterns.
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Maternal Serum Screening: Includes Alpha-fetoprotein measurement for assessing risks linked to conditions like neural tube defects or chromosomal abnormalities.
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Chorionic Villus Sampling (CVS): Chromosomal/DNA analysis via chorionic villi retrieval, known for potential risks.
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Amniocentesis: Extraction of amniotic fluid for analysis during mid-pregnancy, demanding careful monitoring post-procedure.
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Percutaneous Umbilical Blood Sampling (PUBS): Blood aspiration from the umbilical cord for diagnostics.
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Fetal Imaging and Fetoscopy: Techniques to visualize and assess fetal health and identify congenital disorders.
Prevention of Genetic Alteration
- Genetic counseling and assessing family health prior to conception can identify risks for heritable disorders.
- Recommendations include immunizations, drug elimination, folic acid consumption, and assessing parental genetic backgrounds.
Congenital Disorders
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Defined as birth defects or abnormalities observable at birth, often diagnosed later for internal issues.
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Causes include chromosomal and gene abnormalities, emphasizing the importance of early diagnosis and management strategies.### Risk Factors for Congenital Disorders
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Inherited from one or both parents.
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Family history increases susceptibility to congenital disorders.
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Maternal illnesses during the first trimester, such as diabetes, impact fetal development.
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Polyhydramnios (excess amniotic fluid) and oligohydramnios (insufficient amniotic fluid) can pose risks.
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Persistent breech presentation complicates delivery.
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Multiple gestational pregnancies heighten risk of abnormalities.
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Small for gestational age (SGA) infants may indicate potential issues.
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Maternal age over 35 years correlates with higher risks.
Chromosomal and Genetic Disorders
- Disorders resulting from abnormalities in genes or chromosome structures can be generationally inherited.
Trisomy 13 (Patau Syndrome)
- Caused by an extra chromosome 13.
- Severe cognitive challenges; most do not survive past early childhood.
- Incidence: 0.45 per 1,000 live births.
- Common clinical manifestations include:
- Midline body disorders like cleft lip/palate and heart defects (VSD).
- Polydactyly (extra fingers/toes).
- Microcephaly and forebrain abnormalities.
- Microphthalmia or absence of eyes.
- Low-set ears.
Trisomy 18
- Characterized by three copies of chromosome 18.
- Severe developmental impairments; poor survival rates beyond early childhood.
- Incidence: 0.23 per 1,000 live births.
- Clinical manifestations include:
- Small for gestational age (SGA).
- Low-set ears and micrognathia (small jaw).
- Abnormal fingers/toes and rocker-bottom feet.
- Congenital heart defects (CHD) and severe organ malformations.
Cri-du-chat Syndrome
- Results from deletion of a portion of chromosome 5.
- Affected individuals exhibit severe cognitive challenges.
- Notable clinical features:
- Cat-like cry due to larynx malformation.
- Microcephaly and wide-set eyes.
- Downward slant of the palpebral fissures.
Turner Syndrome
- Occurs due to gonadal dysgenesis with a 45XO chromosomal pattern.
- Individuals have one functional X chromosome; risk of learning disabilities.
- Incidence: 1 per 10,000 live births (females).
- Key clinical manifestations include:
- Short stature and low-set hairline.
- Webbed neck and edematous (swollen) hands/feet.
- Congenital anomalies like coarctation of the aorta (CoA) and kidney disorders.
- Sterility due to streak gonads.
- Management may include human growth hormone and estrogen therapy.
Klinefelter Syndrome
- Identified by XXY chromosome pattern (47XXY), affecting males.
- Incidence: 1 per 1,000 live births.
- Clinical manifestations include:
- Underdeveloped secondary sex characteristics.
- Small penis and testes, along with gynecomastia and infertility.
Fragile X Syndrome
- An X-linked disorder caused by a defect on the long arm of one X chromosome.
- Affects cognitive ability differently in males (marked deficits) and females (more subtle).
- Incidence: 1 per 1,000 live births.
- Male symptoms typically manifest at puberty:
- Hyperactivity, autism-like behaviors, distinctive facial features.
- Joint hyperextension and potential cardiac issues; enlarged testicles may occur.
- Female carriers might display some cognitive and physical traits but typically show milder symptoms.
Trisomy 21 (Down Syndrome)
- Caused by three copies of chromosome 21, resulting in varying cognitive challenges.
- Risk factors include maternal age 35 or older and paternal age over 55 years.
- Cognitive abilities range from educable (IQ 50-70) to profound difficulties.
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Description
This quiz focuses on Procreative Health as part of NCM 107, which covers the care of mothers, children, and adolescents. It defines key terms related to the reproductive process, emphasizing the creation of new life through procreation. Test your understanding of these essential concepts and terminology in reproductive health.
