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Recognizing the unique prenatal phenotype of Prader‐Willi Syndrome ( PWS ) indicates the need for a diagnostic methylation test
Author(s) -
Srebnik Naama,
Gross EvenZohar Noa,
Salama Abdalla,
Sela Hen Y.,
Hirsch Harry J.,
GrossTsur Varda,
EldarGeva Talia
Publication year - 2020
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.5712
Subject(s) - polyhydramnios , medicine , obstetrics , pregnancy , prenatal diagnosis , intrauterine growth restriction , population , fetus , pediatrics , genetic counseling , gynecology , genetics , biology , environmental health
Objectives Prader‐Willi syndrome (PWS) is a neurogenetic disorder characterized by mental retardation, morbid obesity, and endocrine and behavior disorders. We previously showed in a small group of patients that PWS may have a unique prenatal phenotype. We aimed to characterize clinical and ultrasonic features in a larger series of pregnancies with a PWS fetus. Methods We retrospectively interviewed all mothers of children with PWS followed in the Israel national multidisciplinary PWS clinic. We compared details of the PWS pregnancy with the pregnancies of healthy siblings and with data from the general population. Medical records including ultrasound reports, obstetric records, and genetic results were analyzed. Results Distinct prenatal features of PWS pregnancies included abnormal fetal growth [fetal growth restriction (FGR) (37.3%), increased head to abdominal circumference ratio (44.8%), decreased abdominal circumference (49.2%)], markedly decreased fetal movements (DFM) (80.4%), and polyhydramnios (42.0%) ( P < 0.001 for all). The combination of abnormal growth accompanied by polyhydramnios or DFM was highly suggestive for PWS. Conclusions Recognition of the unique PWS phenotype should alert obstetricians to consider the possibility of PWS, perform the diagnostic methylation test, provide appropriate counseling, and plan optimal management of the affected pregnancy.