Concurrent prenatal diagnosis of hereditary neuropathy with liability to pressure palsies and congenital pulmonary airway malformation: A case report.
Kai Zhang, JiaTing Yu, Ying He et al.
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Case in brief
At 24 weeks’ gestation, ultrasound in a 38-year-old woman showed a right fetal thoracic lesion with blood supply from the right pulmonary artery, consistent with congenital pulmonary airway malformation (CPAM). A family history of recurrent limb numbness and weakness, including an aunt with hereditary neuropathy with liability to pressure palsies (HNPP), prompted amniocentesis. Microarray identified a 1.38 Mb heterozygous deletion at 17p12 encompassing PMP22, confirming fetal HNPP. The pregnancy continued with individualized perinatal planning, including cesarean delivery at 38 + 2 weeks. The neonate had no observed neurological or respiratory deficits, and the CPAM regressed on follow-up ultrasound.
What made this case unusual
HNPP, usually diagnosed in adolescence or adulthood, was identified prenatally alongside CPAM. The report states that their co-occurrence appears coincidental, with no causal link established.
Diagnostic / clinical pearl
When a fetal structural anomaly is detected, a detailed family history can reveal inherited risk and guide targeted genetic testing; here, family history of HNPP led to prenatal confirmation by microarray.