임신중기 양수천자 31,615예에 대한 임상 및 세포유전학적 결과 = Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

다국어 초록 (Multilingual Abstract)

Background : Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses.
Methods : To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994-2007).
Results : The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have
been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter
syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ultrasonographic findings showed the highest positive predictive value (5.9%)
among the clinical indications.
Conclusions : The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea. (Korean J Lab Med 2008;28:378-85)

다국어 초록 (Multilingual Abstract)

Background : Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses.
Methods : To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994-2007).
Results : The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have
been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter
syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ultrasonographic findings showed the highest positive predictive value (5.9%)
among the clinical indications.
Conclusions : The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea. (Korean J Lab Med 2008;28:378-85)

참고문헌 (Reference)

1 김현진, "임신중기 양수천자 2942예의 세포유전학적 연구" 대한산부인과학회 44 (44): 1109-1114, 2001

2 최석주, "임신 중기 양수천자의 세포유전학적 분석 및임상적 고찰" 대한산부인과학회 48 (48): 1420-1430, 2005

3 장성규, "임신 중기 양수천자 3,537예에 대한 세포유전학적 분석 및 임상적 고찰" 대한주산의학회 18 (18): 29-36, 2007

4 박인양, "임신 중기 양수천자 3,503예에 대한 세포 유전학적 분석:CUMC 경험 (II)" 대한산부인과학회 47 (47): 96-103, 2004

5 김영재, "양수천자 651예의 세포유전학적 분석" 대한진단검사의학회 22 (22): 208-212, 2002

6 심재윤, "산전 세포유전학적 검사의 임상적 분석:서��아산병원 4년 간의 경험" 대한산부인과학회 47 (47): 487-494, 2004

7 Baena N, "Turner syndrome: evaluation of prenatal diagnosis in 19 European registries" 129 : 16-20, 2004

8 Jacobs P, "Turner syndrome: a cytogenetic and molecular study" 6 : 471-483, 1997

9 Sybert VP, "Turner syndrome in: Management of genetic syndromes" Wiley-Liss 459-484, 2001

10 Verma RS, "Tissue culture techniques and chromosome preparation in: Human chromosomes principles and techniques" McGraw-Hill Press 6-71, 1995

11 Hook EB, "The frequency of chromosome abnormalities detected in consecutive newborn studies, difference between studies results by sex and severity of phenotypic involvement in: Population cytogenetics studies in humans" Academic Press 63-79, 1977

12 Milunsky A, "The frequency of chromosomal abnormalities diagnosed prenatally. In: Hook EB and Porter H, eds. Population cytogenetics, studies in humans" Academic Press 11-25, 1977

13 Yang YH, "The Korean collaborative study on 11,000 prenatal genetic amniocentesis" 40 : 460-466, 1999

14 Huang B, "Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance" 26 : 1142-1150, 2006

15 Midtrimester amniocentesis for prenatal diagnosis, "Safety and accuracy" 236 : 1471-1476, 1976

16 Simpson NE, "Prenatal diagnosis of genetic disease in Canada: report of a collaborative study" 23 : 739-748, 1976

17 Hsu LY., "Prenatal diagnosis of chromosomal abnormalities through amniocentesis in: Genetic disorders and the fetus: diagnosis, prevention, and treatment" 1998 179-248, 1998

18 Huang B, "Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations" 22 : 105-110, 2002

19 Gravholt CH, "Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study" 85 : 3199-3202, 2000

20 Held KR, "Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?" 88 : 288-294, 1992

21 Unger E, "Molecular pathology in: Clinical diagnosis and management by laboratory methods" WB Saunders 1276-1277, 2007

22 Dallaire L., "Integration of prenatal diagnosis of genetic diseases into medical practice" 115 : 713-714, 1976

23 Caron L, "Frequencies of chromosomal abnormalities at amniocentesis: over 20 years of cytogenetic analyses in one laboratory" 15 : 149-154, 1999

24 Crolla JA, "FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature" 75 : 367-381, 1998

25 Tseng JJ, "Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004" 45 : 39-41, 2006

26 Dewald G, "Cytogenetics in: Clinical laboratory medicine" Williams & Wilkins 643-645, 1994

27 Karaoguz MY, "Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study" 17 : 219-230, 2006

28 Gardner RJM, "Chromosome abnormalities and genetic counseling" Oxford University Press 252-256, 2004

29 Hook EB, "Chromosomal abnormality rates at amniocentesis and in live-born infants" 249 : 2034-2038, 1983

30 Fernandez-Garcia R, "Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden’ mosaicism" 58 : 201-208, 2000

31 Seabright M., "A rapid banding technique for human chromosomes" 30 : 971-972, 1971