End of Pregnancy Phenotypic Screening (Prenatal Genetic Test)

What This Test Measures

The test analyzes a variety of biological substances in your blood or other fluids to detect markers associated with genetic conditions. These markers may include chromosomal abnormalities (e.g., Down syndrome), neural tube defects, or other congenital anomalies. The results help determine whether further diagnostic testing is needed.

Why It’s Ordered

Your healthcare provider may recommend this test during the second trimester (around 16–20 weeks) to screen for common genetic and structural birth defects. It’s often used alongside other prenatal screening methods, such as ultrasound or maternal blood tests, to provide a comprehensive assessment of fetal health.

Sample Collection and Preparation

A blood sample is typically taken from you during a routine prenatal visit. The sample is processed to extract specific analytes (e.g., proteins, DNA fragments, or biochemical markers) that reflect fetal development. Some tests may also use amniotic fluid or other maternal fluids, depending on the specific screening protocol.

Test Results Interpretation

Results are usually reported as a risk assessment rather than definitive diagnoses. A low risk means your baby is likely healthy, but further testing (e.g., amniocentesis or chorionic villus sampling) may still be recommended for high-risk cases. Consult your healthcare provider for personalized interpretation.