Fetal Biochemical Screening
Overview
Fetal biochemical screening is a non-invasive method used to estimate the risk of chromosomal abnormalities, including Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13. It involves analyzing specific biochemical markers in maternal blood during pregnancy. This screening does not diagnose a condition but identifies those pregnancies at higher risk who may benefit from further diagnostic testing such as CVS or amniocentesis.
First Trimester Screening (11–13+6 weeks)
First trimester screening combines maternal serum markers — free β-hCG and PAPP-A — with nuchal translucency (NT) measurement via ultrasound. This integrated result estimates the risk for Trisomy 21 and 18. The presence of nasal bone, ductus venosus Doppler, and tricuspid valve flow may also be incorporated to improve screening accuracy.
Second Trimester Quadruple Screening (15–22 weeks)
The quadruple test includes four serum markers: Alpha-fetoprotein (AFP), total hCG, unconjugated estriol (uE3), and inhibin-A. It assesses the risk of Trisomy 21, Trisomy 18, and neural tube defects. It is most accurate between 16–18 weeks but can be performed up to 22 weeks gestation.
Cell-Free DNA Screening (cfDNA / NIPT)
Cell-free fetal DNA testing, also known as Non-Invasive Prenatal Testing (NIPT), analyzes fetal DNA fragments circulating in maternal blood. It provides a highly accurate screening for common trisomies (21, 18, 13), sex chromosome aneuploidies, and selected microdeletions. It can be performed from 10 weeks onwards and is especially useful in high-risk pregnancies.
Interpretation and Follow-up
A positive biochemical screening result indicates increased risk and should be followed by confirmatory diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis. The final interpretation should always consider maternal age, gestational age, ultrasound findings, and previous pregnancy history.
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