{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T16:17:18Z","timestamp":1782145038840,"version":"3.54.5"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,1,31]],"date-time":"2021-01-31T00:00:00Z","timestamp":1612051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>First trimester ultrasound screening is an essential fetal examination performed generally at 11\u201313\u2009weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. Meanwhile, increased nuchal translucency (INT) is a widely used marker known to be associated with chromosomal deleterious rearrangements. We report on a 14 WG fetus with an association of INT and univentricular congenital heart malformation (CHM) leading to chorionic villous sampling (CVS). Cytogenetic investigations performed using array\u2010Comparative Genomic Hybridization (CGH) and fluorescence <jats:italic>in situ<\/jats:italic> hybridization (FISH) demonstrated a 1.17\u2009Mb deletion in 16q24.1 encompassing <jats:italic>FOXF1<\/jats:italic> arisen <jats:italic>de novo<\/jats:italic> on maternal inherited chromosome. Fetopathological study confirmed CHM with hypoplastic left heart syndrome (HLHS) associating aortic atresia, mitral stenosis, and left ventricular hypoplasia and revealed in addition specific lung lesions corresponding to alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). This is so far the first case of first trimester prenatal diagnosis of ACDMPV due to the deletion of <jats:italic>FOXF1<\/jats:italic> gene. An interpretation of the complex genomic data generated by ultrasound markers is facilitated considerably by the genotype\u2013phenotype correlations on fetopathological examination.<\/jats:p>","DOI":"10.1002\/ajmg.a.62105","type":"journal-article","created":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T06:25:38Z","timestamp":1612160738000},"page":"1494-1497","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5242-724X","authenticated-orcid":false,"given":"Chlo\u00e9","family":"Puisney\u2010Dakhli","sequence":"first","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique, Service d'Histologie\u2010Embryologie\u2010Cytog\u00e9n\u00e9tique, H\u00f4pital Antoine B\u00e9cl\u00e8re AP\u2010HP 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