Prenatal Care, Genetic Aneuploidy Screening & Teratology
First and Second Trimester Routine Testing, Cell-Free DNA, Carrier Screening, and Medication Safety in Pregnancy
Routine antepartum care follows a rigorous gestational timeline designed to detect maternal asymptomatic infection, isoimmunization risk, gestational diabetes, and fetal chromosomal aneuploidies. Board exams emphasize the exact gestational timing of screening tests, differentiation between screening and diagnostic genetic modalities, and drug contraindications.
1.1 Routine Antepartum Screening Protocol
The initial prenatal visit (typically 8–10 weeks) establishes baseline maternal health and gestational dating. Essential baseline labs include: complete blood count (screening for anemia), blood type and Rh antibody screen, rubella immunity IgG, varicella immunity, urine culture (screening for asymptomatic bacteriuria), syphilis serology (RPR/VDRL), HIV 4th generation antigen/antibody assay, hepatitis B surface antigen (HBsAg), and cervical Pap smear if due. In high-risk patients, baseline hemoglobin A1c and targeted urine NAAT for Chlamydia trachomatis and Neisseria gonorrhoeae are performed.
Gestational age is most accurately established by crown-rump length (CRL) on first-trimester ultrasound (accurate to within ± 5–7 days). If menstrual dating and ultrasound dating disagree by > 7 days in the first trimester, pregnancy due date (EDD) must be adjusted according to the ultrasound. Asymptomatic bacteriuria (defined as ≥ 10^5 CFU/mL of a single organism, most commonly Escherichia coli) must ALWAYS be treated in pregnant women due to progesterone-mediated ureteral dilation and smooth muscle relaxation that dramatically increases the risk of acute pyelonephritis, preterm labor, and low birth weight. Safe first-line regimens include Nitrofurantoin (avoided in 1st trimester and near term due to hemolytic anemia), Amoxicillin-Clavulanate, or Cephalexin × 5–7 days, followed by a mandatory repeat 'test of cure' urine culture.
Subsequent visits follow a strict chronological schedule: at 15–20 weeks, maternal serum quad screen (MSAFP, beta-hCG, unconjugated estriol, inhibin A) or targeted anatomic survey ultrasound (18–22 weeks) evaluates structural anatomy and neural tube defects (elevated MSAFP). At 24–28 weeks: 1-hour 50g oral glucose challenge test (threshold ≥ 130–140 mg/dL triggers 3-hour 100g diagnostic GTT), repeat CBC for physiologic dilutional anemia, and repeat Rh antibody screen. Unsensitized Rh-negative mothers receive 300 mcg of anti-D immune globulin (RhoGAM) at 28 weeks, and again within 72 hours of delivery if the infant is Rh-positive. At 36 0/7 to 37 6/7 weeks: rectovaginal culture for Group B Streptococcus (GBS) is universally obtained.
Serum Aneuploidy Screening Patterns
Clinical Matrix| Aneuploidy / Condition | MSAFP | beta-hCG | Unconjugated Estriol (uE3) | Inhibin A | Confirmatory Modality |
|---|---|---|---|---|---|
| Down Syndrome (Trisomy 21) | Decreased (↓) | Elevated (↑↑) | Decreased (↓) | Elevated (↑↑) | CVS (10–13 wk) or Amniocentesis (15+ wk) |
| Edwards Syndrome (Trisomy 18) | Decreased (↓) | Decreased (↓↓) | Decreased (↓) | Decreased or Normal | Amniocentesis (karyotype / microarray) |
| Patau Syndrome (Trisomy 13) | Decreased (↓) | Decreased (↓) | Normal | Normal | Amniocentesis (karyotype / microarray) |
| Neural Tube Defect / Gastroschisis | Markedly Elevated (↑↑) | Normal | Normal | Normal | Targeted level II ultrasound + amniotic AFP/AChE |
Board Trap — Cell-Free Fetal DNA (cfDNA) Limitations
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