Prader-Willi syndrome can be diagnosed prenatally

American Journal of Medical Genetics. Part a
Noa GrossTalia Eldar-Geva

Abstract

The aim of this study was to characterize the fetal phenotype of a cohort of individuals with confirmed diagnoses of Prader-Willi syndrome (PWS), a severe multi-system genetic disorder, diagnosed by a specific methylation test. We interviewed mothers of 106 individuals with PWS to obtain information about the pregnancy of their affected child. For 47 pregnancies of children younger than 10 years, we also reviewed the obstetric ultrasound and detailed obstetric history from medical records. We compared the PWS pregnancies with those of the sibling closest in age and with the general population. McNemars, Chi-square and Fisher exact tests were used for statistical analyses. Decreased fetal movements, small for gestational age (SGA), asymmetrical intrauterine growth (increased head/abdomen circumferences ratio) and polyhydramnios were found in 88%, 65%, 43%, and 34%, respectively (P < 0.001 vs. siblings and P < 0.0001 vs. the general population for all measurements). No severe morphological abnormalities were found. A combination of 2, 3, and 4 abnormalities was found in 27%, 29%, and 24% of pregnancies, respectively. Fourteen out of 15 umbilical artery Doppler studies were within the normal range (93%). The rare combination of as...Continue Reading

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Citations

Aug 19, 2016·Prenatal Diagnosis·Merlin G Butler
Aug 2, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Klaus DieterichPhilip Giampietro
Jan 23, 2020·Orphanet Journal of Rare Diseases·Lili YangChaochun Zou
Jul 25, 2019·Current Pediatric Reviews·Merlin G ButlerJanice L Forster
Aug 15, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Klaus DieterichJudith G Hall
Jul 1, 2017·Orphanet Journal of Rare Diseases·Céline BarMaithé Tauber
Apr 24, 2018·American Journal of Medical Genetics. Part a·June-Anne GoldVirginia Kimonis
Oct 17, 2021·The Journal of Obstetrics and Gynaecology Research·Kuntharee TraisrisilpTheera Tongsong

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