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
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

e50331

Informations de copyright

Copyright © 2023, Dermitzaki et al.

Déclaration de conflit d'intérêts

The authors have declared that no competing interests exist.

Auteurs

Niki Dermitzaki (N)

Neonatal Intensive Care Unit, University Hospital of Ioannina, Ioannina, GRC.

Themistoklis Loukopoulos (T)

Medicine, University of Ioannina, Ioannina, GRC.
Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina, GRC.

Athanasios Zikopoulos (A)

Obstetrics and Gynecology, Royal Cornwall Hospital, Cornwall, GBR.

Anastasia Vatopoulou (A)

Obstetrics and Gynecology, University Hospital of Ioannina, Ioannina, GRC.

Sofoklis Stavros (S)

Obstetrics and Gynecology, University Hospital Attikon, National and Kapodistrian University of Athens, Athens, GRC.

Chara Skentou (C)

Obstetrics and Gynecology, University of Ioannina, Ioannina, GRC.

Classifications MeSH