OBJECTIVES: To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS: We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS: In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. CONCLUSIONS: The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright (c) 2008 John Wiley & Sons, Ltd.
OBJECTIVES: To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. METHODS: We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy. RESULTS: In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. CONCLUSIONS: The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright (c) 2008 John Wiley & Sons, Ltd.
Authors: Michael D Fountain; Emmelien Aten; Megan T Cho; Jane Juusola; Magdalena A Walkiewicz; Joseph W Ray; Fan Xia; Yaping Yang; Brett H Graham; Carlos A Bacino; Lorraine Potocki; Arie van Haeringen; Claudia A L Ruivenkamp; Pedro Mancias; Hope Northrup; Mary K Kukolich; Marjan M Weiss; Conny M A van Ravenswaaij-Arts; Inge B Mathijssen; Sebastien Levesque; Naomi Meeks; Jill A Rosenfeld; Danielle Lemke; Ada Hamosh; Suzanne K Lewis; Simone Race; Laura L Stewart; Beverly Hay; Andrea M Lewis; Rita L Guerreiro; Jose T Bras; Marcia P Martins; Gerarda Derksen-Lubsen; Els Peeters; Connie Stumpel; Sander Stegmann; Levinus A Bok; Gijs W E Santen; Christian P Schaaf Journal: Genet Med Date: 2016-05-19 Impact factor: 8.822
Authors: John McCarthy; Philip J Lupo; Erin Kovar; Megan Rech; Bret Bostwick; Daryl Scott; Katerina Kraft; Tony Roscioli; Joel Charrow; Samantha A Schrier Vergano; Edward Lose; Robert Smiegel; Yves Lacassie; Christian P Schaaf Journal: Am J Med Genet A Date: 2018-10-10 Impact factor: 2.802