Prenatally diagnosed isolated perimembranous ventricular septal defect: Genetic and clinical implications.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
revised:
25
02
2022
received:
22
01
2022
accepted:
25
02
2022
pubmed:
2
3
2022
medline:
20
4
2022
entrez:
1
3
2022
Statut:
ppublish
Résumé
To evaluate the incidence of chromosomal aberrations and the clinical outcomes following the prenatal diagnosis of isolated perimembranous ventricular septal defect (pVSD). This retrospective study was composed of a cohort of pregnant women whose fetuses were diagnosed with isolated pVSD. Complete examinations of the fetal heart were performed, as well as a postnatal validation echocardiography follow-up at 1 year of age. The collected data included: spontaneous closure of the pVSD, need for intervention, chromosomal aberrations and postnatal outcome. Fifty-five pregnant women were included in the study. 34/55 (61.8%) of the fetuses underwent prenatal genetic workup which revealed no abnormal results. No dysmorphic features or abnormal neurological findings were detected postnatally in those who declined a prenatal genetic workup during the follow-up period of 2 years. In 25/55 of the cases (45.4%), the ventricular septal defects (VSD) closed spontaneously in utero, whereas in 17 cases of this group (30.9%) the VSD closed during the first year of life. None of the large 3 VSDs cases (>3 mm), closed spontaneously. Prenatally isolated perimembranous VSD has a favorable clinical outcome when classified as small-to-moderate size, children in our cohort born with such findings had no macroscopic chromosomal abnormalities.
Identifiants
pubmed: 35230708
doi: 10.1002/pd.6128
pmc: PMC9313563
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
461-468Informations de copyright
© 2022 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
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