Diagnosis of cleft lip-palate during nuchal translucency screening - case report and review of the literature

Orofacial clefts are the most common group of craniofacial anomalies. The detection rate of cleft lip during the mid-trimester, using two-dimensional (2D) ultrasound screening, has improved over the last three decades. However, the detection rates of defects involving the hard palate or isolated cleft palate have remained poor. Over the last decade, many investigators have studied the use of 3D ultrasound to improve the detection rates of these defects. With the increasing use and acceptance of firsttrimester aneuploidy screening in the US, there is growing interest in performing first-trimester fetal anatomy surveys. Reports of first-trimester diagnosis of cleft lip and palate are rare, and this aspect of prenatal sonographic diagnosis remains underexplored. We report a case of unilateral cleft lip and cleft palate diagnosed during a routine first-trimester screening at 12 weeks' gestation and review the pertinent literature on first-trimester diagnosis of cleft lip/palate.