Early Detection of Cleft Lip by Three-Dimensional Transvaginal Ultrasound in Niche Mode in a Fetus With Trisomy 18 Diagnosed by Celocentesis.

Transabdominal ultrasound examination carried out at 11.3 weeks' gestation suggested the diagnosis of holoprosencephaly (HPE). Transvaginal three-dimensional (3D) scan performed using the niche-mode technique enabled diagnosis of HPE, hypotelorism, and cleft lip (CL). The fetus was diagnosed with trisomy 18 by means of transvaginal celocentesis at the time of pregnancy termination. Although prenatal diagnosis of orofacial cleft can be enhanced by 3D ultrasound, only a few cases have been detected early in pregnancy. Here, we report a first-trimester case in which 3D ultrasound in niche mode improved the antenatal diagnosis of CL. Early fetal karyotyping can be accomplished by celocentesis in these cases.