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Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia
Author(s) -
Radler Christof,
Myers Abigail K.,
Hunter Renee J.,
Arrabal Pedro P.,
Herzenberg John E.
Publication year - 2014
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4396
Subject(s) - medicine , prenatal diagnosis , orthopedic surgery , deformity , radiography , prenatal screening , ultrasonography , clubfoot , surgery , gestational age , pregnancy , pediatrics , obstetrics , fetus , genetics , biology
Objectives Routine ultrasonography can detect congenital femoral deficiency (CFD) and fibular hemimelia (FH), but prenatal detection rate and its relation to deformity severity have never been reported. Whether mothers prefer prenatal diagnosis is also unknown. We aimed to determine whether mothers prefer prenatal diagnosis, to report detection rates for CFD and/or FH, and to correlate detection rates to severity of limb shortening. Methods Surveys were mailed to 171 mothers who gave birth to children with CFD/FH between 2000 and 2008. Bilateral femoral and tibial lengths were measured on postnatal radiographs. We calculated corresponding femoral/tibial lengths at gestational weeks 20 and 30. Results Sixty‐five surveys were returned, and 56 radiographs were reviewed. Most mothers (63%) preferred prenatal diagnosis as it enables prenatal counseling. Congenital limb shortening was detected in 24 cases (37%) and was not detected in 41 cases (63%). Detection rate was 52% (12 of 23) in CFD cases, 23% (three of 13) in FH cases, and 30% (six of 20) in combined cases. CFD cases with severe shortening had a higher detection rate. Conclusions Ultrasonographers should measure both femoral and tibial lengths. Unilateral shortening should result in pediatric orthopedic consultation to estimate limb‐length discrepancy at maturity and discuss treatment. © 2014 John Wiley & Sons, Ltd.