Prenatal diagnosis of congenital malformations for the better and for the worse

Abstract

Background: Prenatal detection of congenital malformations gives an opportunity to positively influence prenatal and postnatal management, survival and morbidity, as well as to allow parental choice and psychological preparation.

Objective: To examine the available evidence regarding the impact of detection and underdetection of fetal anomalies as well as that of fetal therapy on neonatal outcome, parental psychological wellness and neonatal care organization.

Methods: Literature search of PubMed.

Results and conclusions: The impact of prenatal diagnosis on neonatal survival and morbidity is dependent upon the type and severity of the anomalies inasmuch as upon the evaluation criteria chosen. We discuss the various pitfalls in the design of trials explaining why only few studies, targeting selected anomalies, have shown improved outcomes associated with prenatal diagnosis of congenital malformations. Fetal therapy applies mainly to conditions that are lethal either in utero or at birth if untreated before birth. It has rarely been evaluated with the highest level of evidence; this may be explained by a poor acceptability of randomization between prenatal intervention and expectancy up until delivery.

• Neonatal outcome
• parental stress and anxiety
• prenatal diagnosis
• fetal therapy

Declaration of interest

The authors report no conflicts of interest.