NIPBL and diaphragmatic hernia: Avagliano et al. [6] proposed that following a sequence of detailed scans and examinations, CdLS-affected fetuses could be diagnosed in utero, when one or more characteristics, such as FGR, limb defects, facial abnormalities, diaphragmatic hernia, and heart diseases, are detected and confirmed by specific molecular diagnostic tests, such as Nipped-B-like protein (NIPBL), structural maintenance of chromosomes 1A (SMC1A), structural maintenance of chromosomes 3 (SMC3), human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21 (RAD21), and histone deacetylase 8 (HDAC8) [7].