Publication Date
2-23-2023
Journal
Genes
DOI
10.3390/genes14030563
PMID
36980834
PMCID
PMC10048226
PubMedCentral® Posted Date
2-23-2023
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
Fetus, Infant, Newborn, Sequence Deletion, Persistent Fetal Circulation Syndrome, Humans, Forkhead Transcription Factors, Pulmonary Alveoli, Hydronephrosis, lethal lung developmental disorder, hydronephrosis, alveolar capillary dysplasia, 16q24.1, prenatal diagnosis, genome sequencing
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the FOXF1 gene and/or its lung-specific enhancer are found in the vast majority of ACDMPV patients. ACDMPV is often accompanied by extrapulmonary malformations, including the gastrointestinal, cardiac, or genitourinary systems. Thus far, most of the described ACDMPV patients have been diagnosed post mortem, based on histologic evaluation of the lung tissue and/or genetic testing. Here, we report a case of a prenatally detected de novo CNV deletion (~0.74 Mb) involving the FOXF1 gene in a fetus with ACDMPV and hydronephrosis. Since ACDMPV is challenging to detect by ultrasound examination, the more widespread implementation of prenatal genetic testing can facilitate early diagnosis, improve appropriate genetic counselling, and further management.
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Biological Phenomena, Cell Phenomena, and Immunity Commons, Biomedical Informatics Commons, Genetics and Genomics Commons, Medical Genetics Commons, Medical Molecular Biology Commons, Pulmonology Commons