Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study.
Array-CGH
RASopathy
normal genomic microarray
normal karyotype
nuchal translucency
outcome
ultrasound
Journal
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
ISSN: 1879-3479
Titre abrégé: Int J Gynaecol Obstet
Pays: United States
ID NLM: 0210174
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
revised:
28
11
2022
received:
17
08
2022
accepted:
09
12
2022
medline:
17
5
2023
pubmed:
27
12
2022
entrez:
26
12
2022
Statut:
ppublish
Résumé
To define the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan. A total of 114 fetuses with isolated NT of 3.5 mm or more, normal karyotype, and array-based comparative genomic hybridization (array-CGH) were included and divided in three groups: NT 3.5-4.5 mm, NT 4.5-6 mm, and NT greater than 6 mm. RASopathy testing and ultrasound follow up were performed in all fetuses. We evaluated: (1) incidence of genetic disorders; (2) incidence of structural abnormalities; (3) pregnancy outcome; (4) long-term pediatric outcome before (point 1) and after (point 2) a normal RASopathy testing and mid-trimester anomaly scan. After normal karyotype and array-CGH the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm and 76.47% for NT more than 6 mm. After a normal RASopathy testing and mid-trimester anomaly scan the residual risks decreased to 7.14%, 8.69%, and 33.3% in the three groups, respectively. In fetuses with an NT of 3.5 mm or more and both normal karyotype and array-CGH, the rate of morbidity-related outcome depends on NT size. A normal RASopathy testing and mid-trimester ultrasound are reassuring but the residual risk of morbidity-related outcome is increased compared with the general population, particularly if NT is greater than 6 mm.
Types de publication
Multicenter Study
Observational Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1040-1045Informations de copyright
© 2022 International Federation of Gynecology and Obstetrics.
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