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Korean Journal of Obstetrics & Gynecology 2004;47(12):2351-2358.
Published online December 1, 2004.
Transabdominal embryofetoscopy in 6 cases of first trimester prenatal diagnosis for congenital anomalies.
Kook Lee, Cheong Mee Kim, Seok Kyo Seo, Si Hyun Cho, Sang Hee Lee, Hyun Jun Lee, Han Byoul Cho, Yong Hyun Chai
Perinatal Center, Department of Obstetrics and Gynecology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
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.
Key Words: Embryofetoscopy, Prenatal diagnosis, Congenital anomalies, First trimester

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