Genetic Disorders Underlying Polyhydramnios and Congenital Hypotonia: Three Case Reports and a Review of the Literature.
fetal medicine
genetic disorders
neaonatal neurological disorders
obstetric counseling
polyhydramnios
prenatal diagnosis
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
accepted:
10
12
2023
medline:
11
1
2024
pubmed:
11
1
2024
entrez:
11
1
2024
Statut:
epublish
Résumé
An abnormal rise in the amount of amniotic fluid is a frequent prenatal observation called polyhydramnios, which can indicate a number of underlying problems. Even while it frequently goes undiagnosed during pregnancy, it may be linked to dangerous fetal illnesses. In three cases of newborns with congenital hypotonia, polyhydramnios was the sole prenatal symptom reported in this study. This fact highlights the significance of understanding the possible connection between genetic abnormalities or neurological problems and polyhydramnios, underscoring the responsibility obstetricians have in educating expectant mothers who are at potential risk for these uncommon but serious illnesses. Whole-genome sequencing (WES), an advanced kind of prenatal testing, is essential for determining genetic reasons and assisting families in making decisions. Working together with specialists in fetal medicine is crucial in guaranteeing the best possible treatment and results for the mother and child.
Identifiants
pubmed: 38205489
doi: 10.7759/cureus.50331
pmc: PMC10779346
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e50331Informations de copyright
Copyright © 2023, Dermitzaki et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.