Prenatal testing encompasses a wide range of screening and diagnostic procedures performed during pregnancy to assess maternal and fetal health, detect potential complications, and identify genetic or chromosomal abnormalities. These tests are designed to provide information that can guide medical management, help parents make informed decisions, and ensure the best possible outcomes for both mother and baby. Prenatal tests can be categorized as screening tests, which assess risk and probability, or diagnostic tests, which provide definitive information but may carry higher risks.

First-trimester screening typically includes ultrasound examination to confirm pregnancy dating and assess early fetal development, as well as blood tests to screen for chromosomal abnormalities such as Down syndrome, trisomy 18, and trisomy 13. The combined first-trimester screen incorporates maternal age, ultrasound findings (nuchal translucency measurement), and blood markers (PAPP-A and free beta-hCG) to provide a risk assessment. Cell-free DNA testing (non-invasive prenatal testing or NIPT) is a newer screening option that analyzes fetal DNA circulating in maternal blood and provides highly accurate screening for common chromosomal conditions.

Second-trimester testing includes the detailed anatomical ultrasound (typically performed between 18-22 weeks) to assess fetal growth and development and screen for structural abnormalities. Additional screening tests may include the quad screen blood test, which screens for neural tube defects and chromosomal abnormalities. For women with increased risk based on screening results, family history, or other factors, diagnostic testing such as chorionic villus sampling (CVS) or amniocentesis may be offered to provide definitive genetic information.

Throughout pregnancy, routine monitoring includes regular assessment of maternal weight gain, blood pressure, urine protein and glucose, fetal heart rate, and fundal height measurement. Additional testing may be performed based on individual risk factors, such as glucose tolerance testing for gestational diabetes, cultures for Group B Streptococcus, or specialized monitoring for women with high-risk conditions. Our comprehensive prenatal testing program is individualized based on each patient's risk factors, preferences, and values, with thorough counseling provided before and after each test to ensure informed decision-making and appropriate follow-up care.