Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Abstract

Prenatal diagnosis with cytogenetic analysis has been recognized for more than 20 yr as a safe and reliable method for couples at increased risk of giving birth to a child with a clinically significant chromosomal abnormality [1,2]. Until 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)(1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(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) Key Words : Prenatal diagnosis, Amniocentesis, Chromosomal abnormalities, Genetic counseling New York, USA), 100 U/mL penicillin (Biological, Inc.), and 100 μ g/mL streptomycin (Biological, Inc.) using the technique described elsewhere [6]. Cultures were harvested when colonies were sufficient (at least 15 colonies), 9-15 days (in case of in situ culture method, 6-10 days) after seeding. MATERIALS AND METHODS ClinicalChromosomes were prepared in the usual manner [6]. Routine diagnosis was performed using the GTG-banding technique [7]. In some cases, analysis was completed by the Cbanding technique. RESULTS Annual number of amniocentesesThe number of amniocenteses requested increased substantially after 1994, particularly sharply in 2000 (Fig. 1). 380Sung-Hee Han, Jeong-Wo...

Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases

“…For example, as reported in the results of a study of 7028 cases by Tseng et al (2006), AMA was the most common indication for AS. In a larger study from Korea, which included 31,615 cases of mid-trimester AS, abnormal MSS results were reported to be the most common indications for AS since 1994, followed by AMA and abnormal ultrasonographic findings (Han et al, 2008). The same results were found in our study; increased risk in MSS was the most common indication for AS, followed by AMA.…”

“…It is currently the most commonly used invasive prenatal diagnostic method. At present, the importance of AS has been emphasized due to advances in screening maternal serum and ultrasonography, increasing awareness of congenital anomalies due to environmental pollution, and increasing maternal age (Han et al, 2008). In this study, we analyzed the clinical indications and cytogenetic analyses of 2500 second-trimester AS cases from our center with prenatal diagnosis and investigated the frequencies of different clinical indications and abnormal results.…”

Dilemmas in Prenatal Chromosomal Diagnosis Revealed Through a Single Center's 30 Years' Experience and 90,000 Cases

“…The observed overall rate of 2.2% abnormal fetal karyotype in 73,268 consecutive AF samples (table 2), independent of indications, is similar to that reported in other published studies [31,32]. The 1,621 cases with a chromosomal abnormality include many with varying clinical significance, ranging from benign-low risk (e.g., 47,XYY, inherited apparently balanced translocations), intermediate risk (e.g., de novo translocations, certain sex-chromosome aneuploidies and various mosaics) and pathogenic-high risk (e.g., autosomal trisomies, 45,X, de novo deletions and derivative chromosomes).…”

“…As evident, there is no doubt that AMA and parental/maternal anxiety is the main indication for PCD (average 67.5%), both in the first and in the second trimester of pregnancy, and this is comparable with data from multiple published studies [28,29,30,31]. We also noted that the indications for PCD shifted significantly over the years.…”

Performance Characteristics of the UniCel DxI 800 Immunoassay for the Maternal Serum Quadruple Test, Including Median Values for Each Week of Gestation, in Korean Women

“…Measurements of maternal serum AFP, uE3, and hCG, as well as maternal age, are widely used in the second trimester for the identification of pregnancies at high risk of Down syndrome [1,2]. The maternal serum mid-trimester triple marker test is also a widely accepted protocol in Korea [3][4][5]. The triple test (AFP, uE3, hCG Background : Maternal serum prenatal quadruple screening includes testing for alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), unconjugated estriol (uE3), and dimeric inhibin A (DIA).…”