[Interpretation of atypical values of maternal serum markers]

Abstract

Objectives: Prenatal screening was set up to identify patients at high-risk of chromosome 21 trisomy based on maternal serum markers measurement. However, the risk of trisomy 21 should not be the only result considered by obstetricians. In fact, abnormal marker values can be associated with other fetal diseases and used to improve maternal and fetal follow-up. Our objective was therefore to study other predictive values of maternal serum markers.

Means and methods: A search through publications was conducted using the PubMed® or Cochrane® databases.

Result: In case of high PAPP-A there is no link with any complications. Second trimester high hCG or first trimester low hCG are associated with an increased vascular risk. High α-fetoprotein level is a marker of neural tube defects or abdominal wall defect. Persistence of high α-fetoprotein with normal echography can suggest other rare fetal diseases. Low maternal serum markers suggests 18 trisomy. Oestriol reflects the fetal hypothalamo-hypophyseal axis and can be used as a diagnosis tool.

Conclusion: Serum markers could be interesting tools for the identification of high-risk pregnancy and the prevention of neonatal complications. They also appear as a potential help to diagnose certain congenital malformations.

Keywords: Marqueurs sériques; PAPP-A; Predictive value; Serum marker; Valeur prédictive; hCG.