南口 早智子

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal disease characterized by severe respiratory distress and pulmonary hypertension during the neonatal period, which is seldom diagnosed prenatally. Ten percent of ACDMPV cases are familial and caused by single nucleotide or copy-number variants in FOXF1 or the FOXF1 enhancer in an autosomal dominant manner. Here, we report a familial case of paternal FOXF1 upstream enhancer deletion, detected as somatic mosaicism in his blood specimen. A 37- and 35-year-old couple had four children. The first, third, and fourth children suffered from ACDMPV that led to neonatal death. In this case, the first child was misdiagnosed with meconium aspiration syndrome, and the diagnosis of ACDMPV was first made after the autopsy of the third child. The option of preimplantation or prenatal genetic testing did not exist during the pregnancy of the fourth child, as the complex genetic basis became clear only after the death of the fourth child.