Transabdominal Embryofetoscopy for the Detection of Short Rib-polydactyly Syndrome, Type II(Majewski), in the First Trimester

Abstract

Our aim was to demonstrate the potential of first-trimester embryofetoscopy for prenatal diagnosis in a continuing pregnancy. A patient at risk for giving birth to an infant with short rib-polydactyly syndrome, type II (Majewski), presented for prenatal diagnosis at 9 weeks of gestation. A 1 mm semirigid fiberoptic endoscope with an 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Transabdominal embryofetoscopy was performed at 13 weeks of gestation. Direct visualization of the fetus was achieved and no gross limb or facial abnormalities were seen. This case shows that embryofetoscopy is a useful tool for early diagnosis in high-risk patients in the first trimester for continuing pregnancies.

Prenatal Diagnosis of Short Rib-Polydactyly Type II by Ultrasound in Three Consecutive Pregnancies

“…In some cases with familial recurrence, the transvaginal sonographic diagnosis at 13-14 weeks of gestation has been reported [4]. Fetoscopy and three-dimensional USG have also been tried in few reports [5,6]. However, uncertainty about the phenotypic expression of such pathologies means that caution must be exercised when making a diagnosis at this early stage of gestation, and a targeted examination by an experienced sonographer is warranted.…”