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        임신 중기 양수천자 1,565 례에 대한 세포유전학적 분석 : CUMC 경험 (1)

        안현영(Hyun Young Ahn),정대영(Dae Young Jung),백은정(Eun Jung Baik),이형근(Hyung Geun Lee),문희봉(Hee Bong Moon),이지현(Jee Hyun Lee),김석찬(Seok Chan Kim),신종철(Jong Chul Shin),나종구(Jong Goo Rha),김수평(Soo Pyung Kim) 대한산부인과학회 2001 Obstetrics & Gynecology Science Vol.44 No.6

        N/A Objectives: To analyze chromosomal abnormalities according to patients age and indications of patients in midtrimester amniocentesis for prenatal genetic diagnosis. Methods: We retrospectively analyzed 1,565 cases of midtrimester prenatal genetic amniocentesis cases which were done in the cytogenetics laboratory at Kangnam St. Hospital, Catholic University Medical College from November1997 to May 2000. Results: In 1,565 cases, the most common maternal and gestational age distributions were 35 to 39 years old and 17 to 17+6 weeks (32.78Vo and 2l.47%, respectively). Abnormal maternal serum markers were the most common indication for amniocentesis (43.64%), and followed by advanced maternal age (40.45%) and abnormal ultrasonographic findings (3.64%). The overall incidence of chromosomal abnormalities was 4.47% (70 cases), of which numerical abnormalities and structural abnormalities were 1.86% (29 cases) and 2.61% (41 cases), respectively. Among the autosomal abnormalities, Down syndrome was most common (10 cases, 0.65%), and followed by Edward syndrome (9 cases, 0.59%). Among the sex chromosomal abnormalities, both of 47,XXX and 47,XXY were most common (3 cases, 0.20%, respectively). Chromosomal abnormalities were most frequently noted in the maternal age of 25 to 29 years old (5.10%), 30 to 34 years old (4.82%), 40 to 44 years old (4.31%), and followed by 35 to 39 years old (3.90%). On the other hand, chromosomal abnormalities were most frequently noted in abnormal ultrasonographic findings (7.02%), previous history of aneuploidy (5.88%), and followed by advanced maternal age (3.95%). Conclusion: This study suggested that although advanced maternal age is still important indication in midtrimester amniocentesis for prenatal diagnosis, abnormal maternal serum markers and ultrasonographic findings might be also important as indications. Therefore, they should be considered in prenatal genetic counseling.

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