Transabdominal embryofetoscopy in 6 cases of first trimester prenatal diagnosis for congenital anomalies

Objective : To demonstrate the efficacy of first trimester embryofetoscopy for prenatal diagnosis of congenital anomalies in continuing pregnancies. Methods : Under ultrasound guidance, six patients at 12+6-14+6 weeks of gestation underwent endoscopic procedures. Indications included history of 2 recurrent major genetic syndromes, history of cleft lip/palate in 2 cases, each one of the patient itself and the previous fetus and each family history of syndactyly and polydactyly. A 1 mm semirigid fiberoptic endoscope with a 18 gauge examination sheath and a single-chip digital camera were used for transabdominal embryofetoscopy. Results : Excellent visualization of the external fetal anatomy was obtained in 83% of cases (5/6) with the duration of procedures ranging 15 to 40 minutes. A diagnosis of Meckel-Gruber syndrome was made at 13+1 weeks of gestation by visualizing postaxial polydactyly and an occipital encephalocele. Subsequently the pregnancy was terminated. Three full-term infants were delivered with no gross limb or facial abnormalities. Amniotic fluid leakage after the procedure occurred in 2 cases resulting in termination of pregnancy. Conclusion : Our experiences confirm the efficacy of embryofetoscopy for early diagnosis in the first trimester of pregnancy. Procedure-related risks are to be established by multicenter studies.