Prenatal ultrasonographic diagnosis of radial-ray reduction malformations.
Radial-ray reduction malformations (RRRMs) may occur isolated or in association with other anomalies. The data of seven fetuses born with RRRMs were collected. Six fetuses had associated lethal abnormalities of the central nervous system, urogenital system, and/or heart, detected by ultrasound. In five cases, it was possible to establish the precise diagnosis, enabling an informed prognosis and subsequent genetic counselling. The diagnoses were: Edwards syndrome (n = 3), VACTERL association (n = 1), and Poland-Moebius-like complex (n = 1). In two cases, a complete diagnosis was not possible because of inadequate evaluation of these fetuses before and/or after birth. A proposal is given for the diagnostic approach for infants with RRRMs detected in the antenatal period by means of ultrasonography.
Brons
J T
JT
Department of Obstetrics and Gynecology, Free University Hospital, Amsterdam, The Netherlands.
van der Harten
H J
HJ
van Geijn
H P
HP
Wladimiroff
J W
JW
Niermeijer
M F
MF
Lindhout
D
D
Stuart
P A
PA
Meijer
C J
CJ
Arts
N F
NF
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D009421:Nervous System Malformations; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011884:Radius / Q000002:abnormalities; D014314:Trisomy; D014457:Ulna / Q000002:abnormalities; D014463:Ultrasonography; D014564:Urogenital Abnormalities