| Transabdominal embryofetoscopy in 6 cases of first trimester prenatal diagnosis for congenital anomalies. |
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Kook Lee, Cheong Mee Kim, Seok Kyo Seo, Si Hyun Cho, Sang Hee Lee, Hyun Jun Lee, Han Byoul Cho, Yong Hyun Chai |
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Perinatal Center, Department of Obstetrics and Gynecology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. |
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| Abstract |
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. |
| Key Words:
Embryofetoscopy, Prenatal diagnosis, Congenital anomalies, First trimester |
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