Transabdominal embryofetoscopy in 6 cases of first trimester prenatal diagnosis for congenital anomalies.
- Author:
Kook LEE
1
;
Cheong Mee KIM
;
Seok Kyo SEO
;
Si Hyun CHO
;
Sang Hee LEE
;
Hyun Jun LEE
;
Han Byoul CHO
;
Yong Hyun CHAI
Author Information
1. Perinatal Center, Department of Obstetrics and Gynecology, Yongdong Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Multicenter Study ; Original Article
- Keywords:
Embryofetoscopy;
Prenatal diagnosis;
Congenital anomalies;
First trimester
- MeSH:
Amniotic Fluid;
Diagnosis;
Early Diagnosis;
Encephalocele;
Endoscopes;
Extremities;
Female;
Fetus;
Humans;
Infant;
Polydactyly;
Pregnancy;
Pregnancy Trimester, First*;
Prenatal Diagnosis*;
Syndactyly;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2004;47(12):2351-2358
- CountryRepublic of Korea
- Language:Korean
-
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.
