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KMID : 0377219990240020079
Medical Journal of Chosun Univercity
1999 Volume.24 No. 2 p.79 ~ p.88
Indications for mid-trimester amniocentesis to evaluate genetic disorders during pregnancy
Kim Dong-Won

Choi Sang-Joon
Song Chang-Hoon
Jung Hyuk
Han Sei-Jun
Abstract
Objective: To systematically review the indications, the age distribution of patients and chromosomal results according to patient¡¯ s age and indications of amniocentesis at chosun university hospital, we analyzed the pattern of the indication of amniocentesis, age distribution of patients and chromosomal results according to maternal age and indications of amniocentesis.

Methods: The authors reviewed the records of chromosomal study of amniocentesis cases from Jan 1998 to Dec 1998 at chosun university hospital, the specimens were obtained from 120 patients after prenatal genetic counseling for the mothers who have high risk for carrying chomosomally abnormal babies.

Results: 1, of 120 amniocentesis cases, 25.8% was maternal age 35 to 39 which was most common age group and followed by age 30 to 34 was 30% and age 25 to 29 was 23.3%. 2. The indications for amniocentesis were abnormal maternal serum markers(65.6%), advanced maternal age(17.5%), abnormal ultrasonographic findings which implies chromosomal abnormality(7.5%). Recently maternal serum markers and ultrasonography play an important role as the indicator for amniocentesis. 3. From the 120 cases, 105 cases showed normal diploidy and 15 cases abnormal karyotype which consisted 12.5%. In autosomal disorders, numerical disorders are chromosomal abnormality(7.5%). Recently maternal serum markers and ultrasonography play an important role as the indicator for amniocentesis. 3. From the 120 cases, 105 cases showed normal diploidy and 15 cases abnormal karyotype which consisted 12.5%. In autosomal disorders, numerical disorders are as follows; 1 Down syndrome, 3 cases of 46, XY, lh+, 2 cases of 46, XX, lh+, 1 case of 46, XY, 9h+, 1 case of 46, XY, 16qh+, structural disorders are as follows; 3 cases of 46, XX, inv(9)(p12;q13), 2 cases of 46, XY, inv(9)(p12;q13), 1 case of 46, XY, t(5;6)(q23.3;q12). In addition, 1 case of 46, X, add(X)(p22.3) is noticed. No statistic significance was found among the different age groups.

Conclulsion: Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal diagnosis, of which the annual incidence has been recently increased abruptly. Not only maternal serum markers, but also maternal age and ultrasonographic finding should be considered in prenatal counselling.
KEYWORD
Maternal seum marker, Ultrasonogram, Amniocentesis
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