Value of increased nuchal translucency in the era of cell‐free DNA testing

We thank Drs Zhen and Li for their interest in our article1 and their comments; however, we feel that some of the points they raise in their letter may not be entirely correct. First, the authors state that only three out of eight cases with a pathogenic copy-number variant (pCNV) or atypical chromosomal anomaly detected by CMA showed normal ultrasound findings; however, in two further cases only agenesis of the ductus venosus was detected prenatally, which was an isolated finding in one case and associated with an aberrant right subclavian artery in the other. These findings would have gone undetected if echocardiography had not been indicated due to increased nuchal translucency thickness (NT). Therefore, the rate of chromosomal anomalies that would be missed