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. 2023 Jun;43(7):929-936.
doi: 10.1002/pd.6390. Epub 2023 Jun 11.

The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles

Ilaria Fantasia  1 , Silvia Catagini  2 , Giulia Zamagni  3 , Pantaleo Greco  2 , Irene Bianchini  1 , Sofia Bussolaro  4 , Mariachiara Quadrifoglio  1 , Leila Lo Bello  1 , Lorenzo Monasta  3 , Giuseppe Ricci  1   4 , Flavio Faletra  5 , Agnese Feresin  5 , Tamara Stampalija  1   4
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The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles

Ilaria Fantasia et al. Prenat Diagn. 2023 Jun.

Abstract

Objectives: To evaluate the clinical significance of nuchal translucency (NT) between the 95th-99th percentile in terms of typical and atypical chromosomal abnormalities (ACAs), associated fetal congenital defects and postnatal outcome.

Methods: A retrospective cohort study of fetuses with NT between the 95th-99th percentile. Data regarding the rate of associated fetal defects, genetic abnormalities and postnatal outcome were collected.

Results: A total of 306 cases of fetuses with an NT between the 95th-99th percentiles were included. The overall rate of genetic abnormalities was 12.1% (37/306). Chromosomal abnormalities were found in 10.1% (31/306) of cases and 2% were ACA (6/306). Within this group, two were pathogenic Copy Number Variants (CNVs) and four were single gene disorders. The overall rate of fetal congenital defects was 13.7% (42/306). All ACAs were found in fetuses with congenital defects. Postnatally, a new diagnosis of a single gene disorder was made in 0.85% of cases (2/236).

Conclusions: The presence of an NT between the 95th-99th percentiles carries a 10-fold increased risk of fetal defects, representing an indication for referral for a detailed fetal anatomy evaluation. The risk of ACA is mainly related to the presence of fetal defects, irrespective of the combined test risk.

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