Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion
| العنوان: | Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion |
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| المؤلفون: | Chloé Puisney-Dakhli, G Tachdjian, Hanane Bouchghoul, Francesca Gubana, Valérie Gautier, Aline Receveur, Francois Michael Petit, Jelena Martinovic |
| المصدر: | American Journal of Medical Genetics Part A. 185:1494-1497 |
| بيانات النشر: | Wiley, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Alveolar capillary dysplasia, Pathology, medicine.medical_specialty, Fetus, medicine.diagnostic_test, Heart malformation, business.industry, Prenatal diagnosis, medicine.disease, Hypoplastic left heart syndrome, Genetics, medicine, Fetal Examination, business, Increased nuchal translucency, Genetics (clinical), Fluorescence in situ hybridization |
| الوصف: | First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks 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-Comparative Genomic Hybridization (CGH) and fluorescence in situ hybridization (FISH) demonstrated a 1.17 Mb deletion in 16q24.1 encompassing FOXF1 arisen de novo 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 FOXF1 gene. An interpretation of the complex genomic data generated by ultrasound markers is facilitated considerably by the genotype-phenotype correlations on fetopathological examination. |
| تدمد: | 1552-4833 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::a9b05e7297c257f541e71d34d742ba80Test https://doi.org/10.1002/ajmg.a.62105Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........a9b05e7297c257f541e71d34d742ba80 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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