[Increased Nuchal Translucency: The Value of Performing an Early Anomaly Scan in the Era of Non-Invasive Prenatal...

In recent years, Non-Invasive Prenatal Testing (NIPT) has been introduced as a promising screening test for Trisomies 21, 13, 18 and Monosomy X. This test quantifies the number of these chromosomes in fetal cells found in maternal blood. It is not considered diagnostic since there is a low percentage of false positive and false negative results. Additionally, to date, it is limited to 4 aneuploidies and does not cover other chromosomal aberrations. Therefore, its clinical benefit is debated in cases of increased nuchal translucency (NT) and the management of these cases should be determined. Herein, we present three cases in which an early anomaly scan led to the diagnosis of significant anomalies in fetuses with an increased NT and a normal NIPT. Genetic testing detected genetic aberrations in two of the three cases, including Monosomy X, which was missed by NIPT. In light of these cases and the existing literature, there is a high diagnostic yield for performing an early anomaly scan, as early as possible, and completing genetic investigation in fetuses with increased NT, despite a normal NIPT. In cases of increased NT, relying solely on a normal NIPT result is expected to lead to underdiagnosis of genetic and anatomic abnormalities.