The goal of prenatal screening is an early risk assessment for diseases or conditions in a fetus before it is born as well as estimation of the maternal risk to develop pregnancy-related disorders. Serum biomarkers play an essential role in identifying pregnancies that are at risk for fetal aneuploidies such as Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome), fetal Neural Tube defects and maternal pre-eclampsia.

Aneuploidy screening

Trisomy 21 or Down syndrome is the most common aneuploidy and affects about 1 in 700 births worldwide. In a combined screening approach in the first trimester (weeks 8-14 of gestation) more than 90% of fetal trisomy 21 cases and 95% of pregnancies affected by trisomies 18 and 13 can be identified by a combination of serum biomarkers Free β hCG (human chorionic gonadotropin) and PAPP-A (pregnancy-associated plasma protein A), ultrasound measures and maternal history.

Pre-eclampsia screening

Pre-eclampsia – also known as pregnancy poisoning – is a pregnancy related disorder that affects 2-8% of all pregnancies. First clinical signs such as hypertension and proteinuria can be observed after week 20 of gestation.