Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.
Chromosome Deletion
Chromosomes, Human, Pair 16
/ genetics
Comparative Genomic Hybridization
Early Diagnosis
Female
Forkhead Transcription Factors
/ genetics
Genetic Association Studies
Genetic Predisposition to Disease
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Persistent Fetal Circulation Syndrome
/ diagnosis
Pregnancy
Prenatal Diagnosis
Pulmonary Alveoli
/ abnormalities
Pulmonary Veins
/ abnormalities
Sequence Deletion
16q24.1
ACDMPV
FOXF1
HLHS
first trimester ultrasound screening
prenatal diagnosis
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
05 2021
05 2021
Historique:
revised:
24
11
2020
received:
16
09
2020
accepted:
15
01
2021
pubmed:
2
2
2021
medline:
10
8
2021
entrez:
1
2
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33522073
doi: 10.1002/ajmg.a.62105
doi:
Substances chimiques
FOXF1 protein, human
0
Forkhead Transcription Factors
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1494-1497Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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