A fetus with Prader-Willi syndrome showing normal diurnal rhythm and abnormal ultradian rhythm on heart rate monitoring.
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.
Hiroi
H
H
Department of Obstetrics and Gynecology, University of Tokyo, Tokyo, Japan.
Kozuma
S
S
Hayashi
N
N
Unno
N
N
Fujii
T
T
Tsutsumi
O
O
Okai
T
T
Taketani
Y
Y
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*