Study conducted at the Rubin Institute for Advanced Orthopedics at Sinai Hospital of Baltimore in Baltimore, MD, USA.
Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia†
Article first published online: 15 MAY 2014
© 2014 John Wiley & Sons, Ltd.
Volume 34, Issue 10, pages 940–945, October 2014
How to Cite
2014), Prenatal diagnosis of congenital femoral deficiency and fibular hemimelia, Prenat Diagn, 34: 940–945. DOI: 10.1002/pd.4396, , , , and (
Funding sources: None
Conflicts of interest: None declared
- Issue published online: 2 OCT 2014
- Article first published online: 15 MAY 2014
- Accepted manuscript online: 25 APR 2014 12:12AM EST
- Manuscript Accepted: 21 APR 2014
- Manuscript Revised: 9 APR 2014
- Manuscript Received: 21 FEB 2014
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.
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.
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.
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.