Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies
Abstract
Congenital anomalies detected by ultrasound occur in approximately 2-4% of pregnancies. Cytogenetic testing allows detection of chromosomal abnormalities, but the majority of fetuses remain without a diagnosis. It is in this context that exome sequencing was introduced into prenatal medicine. The objective of this study was to analyze the indications for this test, determine its diagnostic yield, and assess its impact on pregnancy outcome. Among the 68 fetuses included, exome sequencing identified pathogenic variants in 22 cases, corresponding to an overall diagnostic yield of 32%. Termination of pregnancy was requested in 86% of pregnancies with a positive exome result, compared with 35% of those cases with an inconclusive result (P<0.001). Nevertheless, in more than half of the cases, the result did not influence the decision to terminate. This study shows that exome sequencing improves the diagnosis of fetal anomalies in prenatal diagnosis and may influence pregnancy outcome. However, in many cases, the decision to terminate pregnancy was made before receiving exome sequencing results, highlighting its mainly diagnostic rather than decisional role.
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BibTeX
@article{perriere2026clinical,
title = {{Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies}},
author = {M. Perriere and W. Darwiche and K. Messaoudi and M. Gallet and B. Bonte and S. Delmas Lanta and B. Demeer and F. Jobic and G. Morin and V. Magry and G. Jedraszak},
journal = {Morphologie},
year = {2026},
month = sep,
doi = {10.1016/j.morpho.2026.101242},
url = {https://u-picardie.hal.science/hal-05770840v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Clinical utility of prenatal exome sequencing after normal chromosomal microarray in fetuses with structural anomalies
AU - M. Perriere
AU - W. Darwiche
AU - K. Messaoudi
AU - M. Gallet
AU - B. Bonte
AU - S. Delmas Lanta
AU - B. Demeer
AU - F. Jobic
AU - G. Morin
AU - V. Magry
AU - G. Jedraszak
PY - 2026
DA - 2026/09/30
JO - Morphologie
DO - 10.1016/j.morpho.2026.101242
UR - https://u-picardie.hal.science/hal-05770840v1
AB - Congenital anomalies detected by ultrasound occur in approximately 2-4% of pregnancies. Cytogenetic testing allows detection of chromosomal abnormalities, but the majority of fetuses remain without a diagnosis. It is in this context that exome sequencing was introduced into prenatal medicine. The objective of this study was to analyze the indications for this test, determine its diagnostic yield, and assess its impact on pregnancy outcome. Among the 68 fetuses included, exome sequencing identified pathogenic variants in 22 cases, corresponding to an overall diagnostic yield of 32%. Termination of pregnancy was requested in 86% of pregnancies with a positive exome result, compared with 35% of those cases with an inconclusive result (P<0.001). Nevertheless, in more than half of the cases, the result did not influence the decision to terminate. This study shows that exome sequencing improves the diagnosis of fetal anomalies in prenatal diagnosis and may influence pregnancy outcome. However, in many cases, the decision to terminate pregnancy was made before receiving exome sequencing results, highlighting its mainly diagnostic rather than decisional role.
SN - 1286-0115
ER -