Fetal forearm anomalies: prenatal diagnosis, associations and management strategy.
OBJECTIVE
To determine the underlying associations in fetuses with forearm anomalies, and to derive a management strategy to improve prenatal diagnosis and parental counselling.


METHODS
A retrospective review of fetal medicine unit records to identify all cases with an absent, short or abnormal radius and/or ulna. Cases with a generalised skeletal dysplasia were excluded. Fetal medicine, maternal, neonatal and, where appropriate, histopathological reports, were reviewed.


RESULTS
Sixty-six cases were identified. Two were lost to follow-up and subsequently omitted. Chromosomal anomalies accounted for 19 cases (29.7%), genetic syndromes for 19 (29.7%) and isolated forearm defects for 15 cases (23%). A definitive postnatal diagnosis was made in 54 cases (84%). In 45 of the 64 (70%) cases, a correct prenatal diagnosis was made. Cases with bilateral lesions had a significantly higher association with aneuploidy and genetic syndromes, while those with a sonographically isolated unilateral forearm defect had a very low incidence of other underlying pathology.


CONCLUSIONS
Fetuses with bilateral forearm defects or those with unilateral lesions and other abnormalities detected prenatally have a high incidence of aneuploidy and genetic syndromes. Isolated, unilateral lesions usually have a good prognosis. A management strategy is presented to aid accurate prenatal diagnosis and parental counselling.
Academic Medical Centre, Amsterdam, The Netherlands.
Eva
E
Pajkrt
Simona
S
Cicero
David R
DR
Griffin
M C
MC
van Maarle
Lyn S
LS
Chitty
D000015:Abnormalities, Multiple; D000328:Adult; D002869:Chromosome Aberrations; D037001:Directive Counseling; D019468:Disease Management; D005260:Female; D005542:Forearm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D010290:Parents / Q000523:psychology; D011247:Pregnancy; D011379:Prognosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal / Q000379:methods*