Research: Postnatal diagnosis of congenital anomalies despite active systematic prenatal screening policies: a population-based registry study

Am J Obstet Gynecol MFM

. 2023 Sep 30:101170.

 doi: 10.1016/j.ajogmf.2023.101170. Online ahead of print.

Postnatal diagnosis of congenital anomalies despite active systematic prenatal screening policies: a population-based registry study

Isabelle Monier 1Nathalie Lelong 2Alexandra Benachi 3Jean-Marie Jouannic 4Babak Khoshnood 2Jennifer Zeitlin 2

Affiliations expand


Background: Prenatal screening of congenital anomalies is an important component of maternity care with continual advances in screening technology. However, few recent studies have investigated the overall effectiveness of a systematic policy of prenatal screening for congenital anomalies, such as in France where an ultrasound per trimester is recommended for all pregnant individuals.

Objective: To assess the proportion and the type of congenital anomalies that are not detected during pregnancy.

Study design: The study population included all singleton fetuses and newborns with congenital anomalies from the Paris Registry of Congenital Malformations (remaPAR) from 2001 to 2021. The Registry includes all live births and stillbirths ≥22 weeks of gestation, and terminations of pregnancy for fetal anomaly at any gestational age with congenital anomalies diagnosed prenatally until discharge home from hospital after birth. The prevalence of postnatally detected congenital anomalies was estimated overall and for five-year intervals within the study period. We also reported the proportion of postnatal detection by subgroups of congenital anomalies according to the EUROCAT classification.

Results: Of the 16,602 malformed singleton fetuses and newborns, 32.7% were detected postnatally. This percentage was 11.9% for those with severe anomalies. The postnatal detection rate decreased from 34.3% in 2001-2005 to 27.8% in 2016-2021 (P<0.001). Anomalies most frequently detected postnatally were genital anomalies (n=969, 87.0%), followed by ear, neck and face anomalies (n=71, 78.0%), eye anomalies (n=154, 74.0%) and limb anomalies (n=1,802, 68.4%). Anomalies of the kidney and urinary tract (n=219, 7.1%) and the abdominal wall (n=37, 8.7%) were least likely to be detected after birth. Among the anomalies classified as severe, postnatal detection rates were highest for limb reduction defects (n=142, 40.6%), complete transposition of great arteries (n=31, 17.6%) and diaphragmatic hernia (n=26, 17.2%).

Conclusion: Despite improvement of prenatal screening over a 20-year period, our results show that there is still a margin for improvement in prenatal diagnosis of congenital anomalies.

Keywords: congenital anomaly; detection; postnatal; prenatal; screening.

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