title: A fetus with Prader-Willi syndrome showing normal diurnal rhythm and abnormal ultradian rhythm on heart rate monitoring.
abstract: Clinical features of Prader-Willi syndrome in neonates are marked hypotonia with the absence of crying and feeding difficulty so that prenatal diagnosis of Prader-Willi syndrome is strongly hoped in order to provide appropriate medical and psychological care for neonates and their families. However, the clinical picture of Prader-Willi syndrome in utero has not been well described. We report a pregnancy associated with Prader-Willi syndrome manifesting polyhydramnios, large biparietal diameter of the fetus and characteristic fetal heart rate pattern: prolonged inactive periods and diurnal variation of the incidence of heart rate accelerations. These findings may offer a clue to the prenatal diagnosis of Prader-Willi syndrome, although molecular cytogenetics is mandatory for the definite diagnosis.
authors.affiliation: Department of Obstetrics and Gynecology, University of Tokyo, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Hiroi
authors.forename: S
authors.initials: S
authors.lastname: Kozuma
authors.forename: N
authors.initials: N
authors.lastname: Hayashi
authors.forename: N
authors.initials: N
authors.lastname: Unno
authors.forename: T
authors.initials: T
authors.lastname: Fujii
authors.forename: O
authors.initials: O
authors.lastname: Tsutsumi
authors.forename: T
authors.initials: T
authors.lastname: Okai
authors.forename: Y
authors.initials: Y
authors.lastname: Taketani
mesh_terms: D000204:Activity Cycles / Q000502:physiology; D000328:Adult; D002940:Circadian Rhythm / Q000502:physiology; D005260:Female; D006340:Heart Rate, Fetal; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D006831:Polyhydramnios / Q000175:diagnosis; D011218:Prader-Willi Syndrome / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*