“…Nonsense, missense, frameshift and splicing mutations have all been identified, and severity is associated with presence of mutation and truncating lesions (Krantz et al, 2004;Tonkin et al, 2004 Prenatally, both large nuchal translucency and cystic hygroma have been reported in the first trimester ultrasound (Urban et al, 2001;Huang et al, 2002). Furthermore, cases with a low second trimester PAPP-A (below 0.20 MoM) were reported (Westergaard et al, 1983;Aitken et al, 1999) and Arbuzova et al (2003) reported a case with low PAPP-A detected at 11 weeks in a pregnancy that was terminated for multiple anomalies including growth retardation, limb reduction abnormalities, clubfoot and oligohydramnios, and on postmortem examination and mutation analysis of the NIPBL gene confirmed the diagnosis of CdLS. We report three cases of CdLS detected prenatally.…”