Chromosomal Microarray Evaluation of Fetal Ventriculomegaly.
Case-Control Studies
Chromosome Aberrations
Cohort Studies
Female
Fetus
/ abnormalities
Gestational Age
Humans
Hydrocephalus
/ diagnostic imaging
Karyotyping
/ methods
Microarray Analysis
/ methods
Pregnancy
Pregnancy Outcome
Prenatal Care
/ methods
Reference Values
Severity of Illness Index
Ultrasonography, Prenatal
Journal
The Israel Medical Association journal : IMAJ
ISSN: 1565-1088
Titre abrégé: Isr Med Assoc J
Pays: Israel
ID NLM: 100930740
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
entrez:
18
10
2020
pubmed:
19
10
2020
medline:
3
11
2020
Statut:
ppublish
Résumé
Fetal ventriculomegaly is one of the more common fetal anomalies detected during prenatal screening. To assess the rate of genetic aberrations as the cause for ventriculomegaly in these fetuses. A historic cohort study was conducted on 164 fetuses with sonographic diagnosis of ventriculomegaly. All cases were analyzed for karyotype and 41 cases were further analyzed by chromosomal microarray (CMA). The study group was subdivided by laterality, severity, and whether the ventriculomegaly was an isolated finding or not. Subgroups were compared and the study group was compared to a control group of 209 fetuses. Karyotype aberrations were more common among fetuses with ventriculomegaly (6.6%) compared to controls (0%, P < 0.001). CMA aberrations were more common in the non-isolated ventriculomegaly cases (24.1%) compared to controls (6.2%, P = 0.031). The rate of genetic aberrations was not associated with the degree of dilatation or laterality. It is equivocal whether CMA testing should be conducted on every amniotic fluid sample taken from fetuses with isolated ventriculomegaly. However, if more anomalies are detected during an anatomical survey, CMA analysis should be conducted to decrease oversights of genetic diagnoses.
Sections du résumé
BACKGROUND
Fetal ventriculomegaly is one of the more common fetal anomalies detected during prenatal screening.
OBJECTIVES
To assess the rate of genetic aberrations as the cause for ventriculomegaly in these fetuses.
METHODS
A historic cohort study was conducted on 164 fetuses with sonographic diagnosis of ventriculomegaly. All cases were analyzed for karyotype and 41 cases were further analyzed by chromosomal microarray (CMA). The study group was subdivided by laterality, severity, and whether the ventriculomegaly was an isolated finding or not. Subgroups were compared and the study group was compared to a control group of 209 fetuses.
RESULTS
Karyotype aberrations were more common among fetuses with ventriculomegaly (6.6%) compared to controls (0%, P < 0.001). CMA aberrations were more common in the non-isolated ventriculomegaly cases (24.1%) compared to controls (6.2%, P = 0.031). The rate of genetic aberrations was not associated with the degree of dilatation or laterality.
CONCLUSIONS
It is equivocal whether CMA testing should be conducted on every amniotic fluid sample taken from fetuses with isolated ventriculomegaly. However, if more anomalies are detected during an anatomical survey, CMA analysis should be conducted to decrease oversights of genetic diagnoses.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM