The gold standard in prenatal screening

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

In a combined screening approach in the first trimester (weeks 8-14 of gestation) fetal trisomy 21, 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.

With the help of the serum biomarkers PAPP-A and PlGF combined with biophysical markers such as MAP (mean arterial pressure) and UAPI (uterine artery pulsatility index) and maternal history, the risk for developing pre-eclampsia later in pregnancy can be assessed already during the first trimester in weeks 11-14 of gestation, resulting in a detection rate of 75-90% at a false positive rate of 10%.

For women who show signs and symptoms of pre-eclampsia after week 20 of gestation it is beneficial to measure the biomarkers PlGF and sFlt-1 in addition to other clinical and medical assessments to better identify women who will have pregnancy complications.

Pre-eclampsia screening in 1st trimester of pregnancy

Pre-eclampsia management with biomarkers

The gold standard in prenatal screening