
This study aimed to evaluate the clinical significance of nuchal translucency (NT) between the 95th–99th percentile regarding typical and atypical chromosomal abnormalities (ACAs), associated fetal congenital disabilities and postnatal outcomes. 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). 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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