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[Split hand-foot: sonographic detection at 12 weeks]
Ginecologia Y Obstetricia De Mexico
|August 9, 2014
Summary
Split hand-foot malformation, a rare autosomal dominant disorder, was diagnosed via ultrasound at 12 weeks gestation. Prenatal diagnosis confirmed the condition, leading to a decision for voluntary termination of pregnancy.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Developmental Biology
Background:
- Split hand-foot malformation (SHFM) is a rare congenital limb malformation.
- It typically follows an autosomal dominant inheritance pattern with variable expressivity.
- Early detection is crucial for genetic counseling and reproductive decision-making.
Observation:
- A case of SHFM was identified through routine ultrasound screening at 12 weeks of gestation.
- Sonographic examination revealed bilateral involvement of both hands and feet.
- A comprehensive fetal anatomical survey showed no other congenital anomalies.
Findings:
- Prenatal ultrasound findings were consistent with the diagnosis of SHFM.
- Genetic analysis via chorionic villus sampling confirmed the suspected diagnosis.
- Pathological examination post-termination corroborated the sonographic and genetic findings.
Implications:
- This case highlights the efficacy of early prenatal ultrasound in diagnosing SHFM.
- Accurate prenatal diagnosis facilitates informed parental decision-making regarding pregnancy management.
- Understanding SHFM's genetic basis and variable expression is vital for genetic counseling.
