XIV. How does the human develop throughout the lifespan?
A. Pregnancy, maternal health
1. Contraception, sexually transmitted infections (STI)
2. Normal pregnancy and delivery
3. Termination of pregnancy
4. Molar pregnancy, ovarian teratomas
5. Twinning & multiple gestation: mono vs di chorionic, birth defect risk, maternal risk
6. Teratogens (see XIIID3)
7. Reproductive assistance: artificial insemination, in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), sperm and egg donation
8. Prenatal diagnosis: family history and risk assessment, preimplantation genetic diagnosis (PGD), chorionic villus sampling (CVS), amniocentesis, ultrasound, maternal serum screening, cell free DNA
9. Management of medical conditions during pregnancy
10. Management of genetic disorders during pregnancy
11. Management of cancer during pregnancy
B. Lifespan: newborn, pediatric, adolescent, aging, telomeres
1. Normal growth and development in childhood
Growth curves – normal and condition specific (eg, Down syndrome)
Denver developmental scale – normal and condition specific (eg, Achondroplasia)
2. Common genetic conditions diagnosed in childhood
Disease Ex: Cystic fibrosis, sickle cell anemia, PKU, galactosemia, Down, Turner, neurofibromatosis type 1, achondroplasia, Marfan, Duchene, fragile X
3. Common multifactorial conditions diagnosed in childhood
Disease Ex: Intellectual disability, autism, obesity, cleft lip/palate, neural tube defects, club feet, developmental dysplasia of the hip
4. Common genetic conditions diagnosed in adulthood
Disease Ex: Huntington disease, myotonic dystrophy, Neurofibromatosis type 2, familial thoracic aortic aneurysms, Ehlers-Danlos, Emery-Dreifuss muscular dystrophy, Klinefelter, Cancer syndromes (BRCA, FAP, HNPCC), hemochromatosis, porphyrias, cardiomyopathies, arrhythmia syndromes (long QT), peripheral neuropathies (Charcot-Marie-Tooth)
5. Common multifactorial conditions diagnosed in adulthood
Disease Ex: Type 2 diabetes, hypertension, coronary artery disease, obesity, psychiatric illnesses, Alzheimer and other dementias, Parkinson, cancer
6. Genetics of Aging
Telomeres
Oxidative damage
Calorie restriction
Progeria