임신 1/3분기에 태아 기형 진단을 위한경복벽 배태아경술 6예
Transabdominal embryofetoscopy in 6 cases of first trimesterprenatal diagnosis for congenital anomalies
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목적 : 지속되는 임신에서 임신 1/3분기 배태아경술에 의한 조기 산전 진단의 효용성을 증명하고자 하였다. 연구 방법 : 태아의 외부 구조적 결손을 가진 중증 유전 증후군 기왕력 2예, 토순/구개파열을 가진 임신부 본인과 태아를 출산한 기왕력 각각 1예, 합지증과 다지증 각각 1예의 가족력을 가진 총 6예를 대상으로 초음파 유도 하에 임신 12+6-14+6주에 경복벽 배태아경술을 시행하였다. 직경 1 mm의 내시경을 자궁 내에 넣고 태아의 외부 구조를 관찰하였으며, 배태아경은 single-chip 디지털 카메라에 연결하고 기록하였다. 결과 : 경복벽 배태아경술을 시행한 6예 중 5예 (83%)에서 태아의 외부구조를 성공적으로 관찰할 수 있었고, 소요된 시간은 평균 25분 (15-40분 범위)이었다. 멕켈-그루버 증후군은 임신 13+1주에 다지증과 뇌허니아를 관찰하여 진단하고, 임신을 종결하였다. 3예는 사지 기형이나 안면 기형이 없는 태아를 만삭에 분만하였다. 시술 후 양막파열은 2예에서 발생하였다. 결론 : 경복벽 배태아경술의 임신 1/3분기 조기 산전진단에 대한 효용성을 확인할 수 있었다. 임신 1/3분기의 경복벽 배태아경술은 태아의 외부 구조를 직접 눈으로 볼 수 있어 조기 진단의 효용이 있으나, 시술과 관련된 위험도는 앞으로 여러 기관의 경험과 사례 축적을 통해 이루어져야 한다.
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.
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