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Toward Prenatal diagnosis of Prader Willi Syndrome
Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Iguazu I
Date: 2014-05-08 04:00 PM – 04:15 PM
Last modified: 2014-02-09
Abstract
Title: Toward Prenatal diagnosis of Prader Willi Syndrome
Objectives: To characterize the fetal phenotype of a cohort of individuals with confirmed diagnoses of PWS.
Methods: 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.
Results: Decreased fetal movement, intra-uterine growth retardation (IUGR), asymmetrical intra-uterine growth with a significant discrepancy between abdomen and head circumferences, and polyhydramnios were found in 88%, 65%, 43% and 34%, respectively. In 101/106 (95%) pregnancies, at least one abnormality was documented prenatally. A combination of 2, 3 and 4 abnormalities was found in 27%, 29% and 24% of pregnancies, respectively. The combination of asymmetrical intra- uterine growth and polyhydramnios was found in 34% of PWS pregnancies and in 0.26% of a control group (p<0.0001).
Conclusion: Prenatal genetic screening for PWS by methylation testing is indicated when any combination of IUGR or asymmetric intra- uterine growth, polyhydramnios, and diminished fetal movements is present, particularly when asymmetrical intra- uterine growth and polyhydramnios coexist.
Objectives: To characterize the fetal phenotype of a cohort of individuals with confirmed diagnoses of PWS.
Methods: 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.
Results: Decreased fetal movement, intra-uterine growth retardation (IUGR), asymmetrical intra-uterine growth with a significant discrepancy between abdomen and head circumferences, and polyhydramnios were found in 88%, 65%, 43% and 34%, respectively. In 101/106 (95%) pregnancies, at least one abnormality was documented prenatally. A combination of 2, 3 and 4 abnormalities was found in 27%, 29% and 24% of pregnancies, respectively. The combination of asymmetrical intra- uterine growth and polyhydramnios was found in 34% of PWS pregnancies and in 0.26% of a control group (p<0.0001).
Conclusion: Prenatal genetic screening for PWS by methylation testing is indicated when any combination of IUGR or asymmetric intra- uterine growth, polyhydramnios, and diminished fetal movements is present, particularly when asymmetrical intra- uterine growth and polyhydramnios coexist.
Keywords
Prader Willi syndrome, prenatal diagnosis, Ultrasonography, IUGR, asymmetric intra-uterine growth, polyhydramnios, diminished fetal movements
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