Abstract Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal developmental disorder of the lungs that manifests severe clinical symptoms in newborns. In this study, we present three cases of ACDMPV that showed extrapulmonary a nonspecific prenatal phenotype. In Case 1, routine anatomical scanning revealed fetal megacystis. Subsequent amniocentesis detected a pathogenic deletion of 1.17 Mb in the 16q24.1 region, encompassing the FOXF1 gene. In Case 2, second-trimester ultrasound examination showed fetal bowel dilatation and polyhydramnios at 27 weeks gestation. Trio exome sequencing (ES) identified a de novo FOXF1 c. 226C > T (p. Gln76Ter) variant. In Case 3, the routine ultrasound revealed moderate fetal tricuspid regurgitation at 22 weeks. Trio ES identified a de novo c. 356G > A (p. Gly119Asp) variant in FOXF1. Our study indicates that given the challenges associated with detecting ACDMPV via ultrasound examination alone, there is a pressing need for broader implementation of prenatal genetic testing to facilitate early diagnosis in fetuses with structural anomalies, especially involving the genitourinary, gastrointestinal, or cardiovascular systems.
Jing et al. (Wed,) studied this question.