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A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
Author(s) -
Dufke Andreas,
Hoopmann Markus,
Waldmüller Stephan,
Prodan Natalia Carmen,
BeckWödl Stefanie,
Grasshoff Ute,
Heinrich Tilman,
Riess Angelika,
Kehrer Martin,
Falb Ruth J.,
Liebmann Alexandra,
Roggia Cristiana,
Stampfer Miriam,
Schadeck Malou,
Müller Amelie J.,
Grimmel Mona,
Stöbe Petra,
Gauck Darja,
BuchertLo Rebecca,
Baumann Sarah,
Schäferhoff Karin,
Bertrand Miriam,
Menden Benita,
Sturm Marc,
Schütz Leon,
Riess Olaf,
Ossowski Stephan,
Haack Tobias B.,
Kagan Karl Oliver
Publication year - 2022
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.6170
Subject(s) - exome sequencing , medicine , single center , exome , prenatal diagnosis , fetus , obstetrics , pregnancy , pediatrics , genetics , biology , mutation , surgery , gene
Abstract Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses. Methods We recruited 51 fetuses with two or more defects, non‐immune fetal hydrops or fetal akinesia deformation syndrome|or fetal akinesia deformation sequence (FADS). Trio exome sequencing was performed on DNA from chorionic villi samples and parental blood. Detection of genomic variation and prioritization of clinically relevant variants was performed according to in‐house standard operating procedures. Results Median maternal and gestational age was 32.0 years and 21.0 weeks, respectively. Forty‐three (84.3%) fetuses had two or more affected organ systems. The remaining fetuses had isolated fetal hydrops or FADS. In total, the exome analysis established the genetic cause for the clinical abnormalities in 22 (43.1%, 95% CI 29.4%–57.8%) pregnancies. Conclusions In fetuses with multiple defects, hydrops or FADS and normal standard genetic results, trio exome sequencing has the potential to identify genetic anomalies in more than 40% of cases.