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Congenital Anomaly Definition

• It is a condition present at birth
• Can result from genetic factors, chromosomal abnormalities, or issues during pregnancy

Possible Causes of Congenital Anomalies

• Single gene mutations
• Chromosomal anomalies such as Down syndrome
• Premature birth, complications during labor
• Exposure to harmful substances

Congenital Anomaly Key Facts

• Some appear at birth, and others develop later
• Can affect a single organ or multiple body systems
• Risk increases with maternal age over 35, and in some cases, paternal age

Examples of Congenital Anomalies

• Down Syndrome is a chromosomal disorder
• Cystic Fibrosis is a genetic disorder
• Spina Bifida is a developmental disorder

Conclusion on Congenital Anomalies

• They vary in severity and impact
• Early diagnosis and medical care can improve quality of life

Single-Gene Trait Disorders

• Mutations in one gene within reproductive cells cause them
• The mutant gene follows an inheritance pattern and can be passed to future generations

Inheritance of Genetic Disorders

• Mutations in other body cells cause dysfunction, but will not be inherited
• The severity of the disorder depends on how the altered gene affects the individual's phenotype
• Some single-gene disorders show symptoms at birth
• Huntington's disease appear later in life

Chromosomal Anomaly

• Occurs when there is an error during meiosis
• It is the process of cell division that creates sperm and egg cells

Effects of Chromosomal Anomalies

• Missing, extra, or rearranged DNA
• Altered genetic information

Example of Chromosomal Anomaly

• Down syndrome (trisomy 21)
• An extra copy of chromosome 21 is present

Causes of Chromosomal Anomalies

• Spontaneous errors during meiosis
• Exposure to damaging substances

Risk Factors for Chromosomal Anomalies

• Maternal age over 35 increases the chance of errors in egg cell division
• Older fathers are linked to a higher risk of genetic changes

Chromosomal Anomaly Statistics

• Errors are a common cause of miscarriages in the first trimester
• About 7 in 1,000 births have a chromosomal anomaly

Anomalies Unrelated to Genetics

• Some result from external factors that affect fetal development
• External factors are not inherited genetic mutations

Possible Causes of Genetically Unrelated Anomalies

• Premature birth can lead to underdeveloped organs and disabilities
• Difficult labor and delivery may cause oxygen deprivation or trauma
• Exposure to harmful substances (teratogens), such as drugs, alcohol, and radiation
• Infections such as rubella, toxoplasmosis, and syphilis
• Poor maternal nutrition, such as folic acid deficiency

Classification of Genetically Unrelated Anomalies

• They manifest at birth and are classified as congenital or developmental disorders
• Non-inherited anomalies

Single-Gene Disorders

• They are caused by mutations in one specific gene
• They follow inheritance patterns

Examples of Single-Gene Disorders

• Cystic Fibrosis (Autosomal Recessive) affects the lungs and pancreas due to defective exocrine glands
• Sickle Cell Disease (Autosomal Recessive) causes defective hemoglobin and sickle-shaped red blood cells
• Phenylketonuria (PKU) (Autosomal Recessive) is a metabolic disorder where phenylalanine builds up, causing brain damage
• Huntington's Disease (Autosomal Dominant) is a neurodegenerative disorder appearing in midlife
• Marfan Syndrome (Autosomal Dominant) affects connective tissue, leading to cardiovascular and skeletal issues
• Duchenne Muscular Dystrophy (X-Linked Recessive) causes progressive muscle degeneration
• Hemophilia A (X-Linked Recessive) is a blood clotting disorder

Single-Gene Disorder Probability

• The risk is calculated for each pregnancy based on the parents' genotypes

Inheritance Patterns in Single-Gene Disorders

• Autosomal Recessive (both parents are carriers)
  • There is a 25% chance the child will be affected
  • There is a 50% chance the child will be a carrier
  • There is a 25% chance the child will be unaffected
• Autosomal Dominant (one affected parent)
  • There is a 50% chance the child will inherit the disorder
  • Unaffected children do not pass it on
• X-Linked Recessive (carrier mother, unaffected father)
  • There is a 50% chance of affected male children -There is a 50% chance of carrier female children
  • Affected fathers cannot pass the disorder to sons
  • All daughters will be carriers
• X-Linked Dominant (one affected parent)
  • Males and females can inherit the disorder
  • If the father is affected, all daughters will inherit the disorder, but no sons
  • If the mother is affected, there is a 50% chance that both male and female children will inherit the disease

Types of Genetic Disorders

• Includes autosomal recessive, autosomal dominant, X-linked dominant, X-linked recessive, chromosomal disorders, and multifactorial disorders

Autosomal Recessive Genetic Disorders

• Both parents must pass on the mutated gene
• Carriers do not show symptoms
• Cystic Fibrosis, Sickle Cell Disease, PKU are examples

Autosomal Dominant Genetic Disorders

• Only one mutated gene is needed; there are no carriers
• Individuals are either affected or unaffected
• Huntington's Disease and Marfan Syndrome are examples

X-Linked Dominant Genetic Disorders

• Mutation on the X chromosome that affects both males and females
• Fragile X Syndrome is an example

X-Linked Recessive Genetic Disorders

• Mutation on the X chromosome that mainly affects males
• Hemophilia A and Duchenne Muscular Dystrophy are examples

Chromosomal Disorders

• Caused by missing, extra, or rearranged chromosomes
• Examples include Down Syndrome (Trisomy 21), Turner Syndrome (Monosomy X), and Klinefelter Syndrome (XXY)

Multifactorial Disorders

• Caused by a combination of genes and environmental factors
• Examples include Heart Disease, Breast Cancer, and Schizophrenia

Developmental Disorders

• Occur when fetal development is disrupted due to genetic or environmental factors

Definition of Teratogenic

• Refers to agents that cause damage to the embryo or fetus
• Teratogens lead to birth defects and include drugs, infections, and environmental exposures

Thalidomide

• Was a drug once used for morning sickness
• It caused severe birth defects, including missing limbs

Diagnosing Potential Disorders

• Diagnosis can occur before or after birth using various methods

Prenatal Testing

• Ultrasound: detects structural abnormalities
• Amniocentesis: examines fetal cells in amniotic fluid for genetic conditions, using ultrasound
• Chorionic Villus Sampling (CVS): detects chromosomal disorders earlier than amniocentesis
• Maternal Blood Tests: screens for certain genetic conditions

Postnatal Testing

• Newborn Screening: detects genetic/metabolic disorders like PKU
• Genetic Testing: confirms inherited conditions
• Biochemical Tests: identifies metabolic defects

Testing Procedures

• Blood tests detect abnormal enzymes or proteins, such as phenylketonuria.
• Karyotyping identifies chromosomal abnormalities.
• DNA analysis detects mutations in specific genes, such as Huntington's disease

Twin Studies

• Twin studies can determine the significance of nurture and genetic traits
• Identical twins have the same DNA and nurturing upbringing, identical twins
• Are placed in different home and environments to determine the effect of external factors

Twin Studies Analysis

• Nature is genetic, nurture is environment

Epigenetics Basics

• Focuses on how the environment alters expressive genes
• Can potentially turn off or on obesity genes
• Lifestyle changes may alter and influence genetic well-being

Epigenetic Manipulation

• Like family may have inherent health issues that can be managed through diet and exercise
• This can potentially reduce the affect of heart failure

External Influences on Epigenetics

• External trigger that affects the developing cell, e.g. smoking
• The environment, smoking, medications, acholic, lack of sleep, lack of exercise may alter trigger factors

Environmental Factors

• Includes anything that can trigger a chemical unbalance in the body

Genetic Proportions

• Mammals show a 90% shared DNA
• Humans and animals share the same epigenetic mechanism

Epigenetics in Offspring

• Lifestyle choices today can still affect future generations
• Can be changed out lifestyle behaviors to change lifestyle behaviors
• if you smoke when you are pregnant the ovaries carries cells and affect future generations

Epigenetics after Birth

• Epigenetics continue to affect people after we are born
• People are not stuck with an epic genetic influence, what our gene says

Positive Epigenetic Impact

• Proper diet, life management will create positive epigenetic changes
• Eating well and reducing stress results in positive changes

How Pregnancy is Diagnosed

• Diagnosed through the detection of human chorionic gonadotropin (hCG) in the mother's plasma or urine
• This hormone, secreted by the chorionic villi after implantation, can be identified with enzyme-linked immunosorbent assay (ELISA)-based tests

Positive Signs of Pregnancy

• Include detection of the fetal heartbeat via auscultation or ultrasound
• Fetal movement by someone other than the mother
• Visualization of the fetus through ultrasound

Nägele's rule

• This rule determines the estimated date of delivery (EDB)

Rule Measurement

• Based on the first day of the last menstrual period (LMP)

Terms Associated With Pregnancy

     - Amniocentesis Examines fetal cells in amniotic fluid for genetic conditions, use an ultrasound

• Gravidity: the number of times a woman has been pregnant, including current pregnancies and miscarriages

• Parotid is the number of live births

Physiological Changes

Pregnancy involves several changes in the mother and fetus, affecting nearly every organ system

   - Cardiovascular system works harder, with more blood and heartbeat

• Hormonal fluctuations - particularly the rise in estrogen and progesterone

• Respiratory Adjustments

• Uterus expands

• Mammary Gland Preparation

Ectopic Pregnancy

- An ectopic pregnancy occurs when the fertilized egg implants outside the uterus, often in the fallopian tube

Pregnancy

  - This condition is threatening because the growing embryo can cause the tube to rupture and possible shock

Pre-Existing Medical Condition

• Medical Emergency, can have a stroke or kidney failure

• Characterized by -Pre-eclampsia is a characterization by high blood pressure and swelling -If it is untreated can progress to eclampsia

Gestational Diabetes

• Type of diabetes when the body is developing - The body cannot produce enough insulin to meet the increase needs - Can result in high blood sugar which lead to large birth weight, preterm birth or fetal distress

Placenta Disorders

• Include Placenta Previa - Where the placenta covers the cervix

  - Placenta Abruption
  - Where the placenta detaches from the uterus after birth
   - Where the placenta detached it can have bleeding so use ultrasound to keep and check
  

Blood Clotting Disorders

• Blood clots are usually during pregnancy - DVT or pulmonary embolism

- Pregnancy Increase risk for:
          - Women need to prevent complications and embolism

Disseminated Intravascular Coagulation (DIC)

     - DIC is a abnormal clotting throughout the body leading to formation of small clots in blood vessels

• Occurs in pregnacy to due to complications - Can have multiple places ♦️RHo Incompatible - Rh-negative mother carries a Rh-positive baby

Puberty and Obesity

-Increases the possibility of obesity due to hormonal changes activity level -Decreases that contribute

Metabolic Syndrome

• Increase type 2 diabetes with a shortened life - Caused by lifestyle factors -Poor diet, lack of physical activity, obesity, with the genetic predisposition -Three factors of Metabolic Syndrome, risk in abdominal fat that alterations in the in the the metabolism

Adolescent Musculoskeletal Changes

• Bones and muscles undergo rapid development -muscle increase and mass

Spine Abnormalities

• Kyphosis
      - Is the abnormal curvature of the spine

♦♦ Lordosis - Exaggerated inward the exaggerated ♦♦ Scoliosis - Side ways curves

Osteomyelitis Causes and Phases

• Impacted by those bloodborne organisms can causes infection -gets in the bone,bone simulated

Juvenile Rheumatoid Arthritis (JRA)

• An autoimmune disease that causes inflammation of the joints and children’s
• differs from adults -adults are more chronic with acute

Juvenile Rheumatoid Arthritis Treatment

 - nonsteroidal anti-inflammatory, medication to maintain joint

Eating Disorder Effects

• Impacts to emotional well-being -Major concerns the growth - Adeloscent- can also

anorexia bulimia

• Anorexia
  • Characterized by self starvation - Is known as binging

Acne Concerns

-adolescents year

Mononucleosis

• Prevalent in adolenscent -Transmitted through slavia -Comlications include hepitities -Spleen has returned to normal size

Chromosomal Disorder Diagnosis

-May not apparent until late

          •

      -Examelps
                Kleinfetter

• Women -turner syndrome

Mentstrual Abormalities

-Delated march or absence -painful menstruation

Hormonal Changes of Aging

• Hormone Decreased such as estrogen, and growth hormone

Reproduction in Aging

• Affect and decrease to ovaries -Increae isk to hearts

Skin Changes

-Skin becomes more prone bruising

Cardio System Aging

• Harder To pump

Muscles Declining for eldery

• Less able to move

Respiratory Change In Aging

• hard to clear mucas - higher Pnuermia

Nervous Systems

-Dementica alzhiermes - build up in the brain

Digetsuve Chnage

• can’t swalloe

Elderlu urian

-reduced kindkey

Geriatrics Infections

-less immune

Olde Comman Cancer

Geritrics and Cancer

-mutations

###Geritrics Geriatr

• Require comprehensiv