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We thank the authors for their correspondence regarding our publication in Ultrasound in Obstetrics & Gynecology. Drs Jiang and Li reflect on the advantages and disadvantages of an early nuchal translucency measurement before 11 weeks of pregnancy. We agree with the authors' caution regarding the addition of more scans to the existing prenatal screening program for congenital anomalies, particularly if their efficacy remains uncertain. It is pertinent to note that our prospective cohort study does not plead to incorporate nuchal translucency measurements in the early first trimester. Nevertheless, an increased nuchal translucency is a marker for congenital anomalies, even at an early gestational age, and should not be ignored. While the primary objective of a dating scan is to determine gestational age, its utility in screening for congenital anomalies is not negligible. Our study reveals that an early increased nuchal translucency is associated with a higher chance of chromosomal anomalies in comparison to a normal early nuchal translucency measurement, even when nuchal translucency normalizes1. Therefore, prompt referral of patients to a fetal medicine unit where more specific counseling can be done, and invasive tests are available if desired, is more advantageous than proceeding with standard counseling and offering non-invasive prenatal testing (NIPT) and a routine (low-risk) first-trimester anomaly scan. In a routine setting, the choice for NIPT may be influenced by a perceived low risk and insufficient information regarding non-invasive and invasive prenatal testing and the difference in yield in cases with early increased nuchal translucency. Therefore, we recommend that expectant parents are offered proper diagnostic testing as early as possible in pregnancy, after in-depth counseling. If, after counseling, parents still want to proceed with NIPT, this remains as an option, since the optimal choice of test still depends on the preference of the expectant parents. However, we recommend that the first- and second-trimester anomaly scans are always performed in a fetal medicine unit.

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DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.

Titre Crossref
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Date Crossref
01/08/2024
Éditeur
Wiley
Type
journal-article

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Les sujets associés

Prenatal Screening and DiagnosticsCongenital Diaphragmatic Hernia StudiesParvovirus B19 Infection Studies

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