Fetal transverse limb defects: Case series and literature review

Abstract

To investigate the incidence and outcome of antenatally diagnosed isolated transverse limb defects at a major tertiary center and to review the literature relevant to this rare condition. This was a retrospective review of all cases (2000-2009) diagnosed with an isolated transverse limb defect referred to a tertiary fetal medicine center. Isolated transverse limb defects were defined as partial or complete absence of a part of one or more limbs in the absence of other abnormalities. Nine cases were identified. The upper limbs were affected in seven cases. The median gestational age at diagnosis was 22+5 weeks (range 21-29 weeks). The defects ranged from absence of digits to the absence of three limbs in one case. Four women opted to have termination of pregnancy. Postnatal and postmortem examination confirmed the ultrasound findings. No obvious risk factors could be identified in the majority of cases. Most cases of limb defects are believed to be secondary to a vascular insult occurring early in embryonic life. The reason for upper limb predominance remains unclear. Perinatal outcome in this series was poor with the majority of pregnancies terminated. Long-term functional outcome depends on the severity of the limb reduction defect.