Detection of Chromosome Aberrations in the Second Trimester Using Genetic Amniocentesis: Experience During 1995-2004

Tseng, Jenn-Jhy; Chou, Min-Min; Lo, Feng-Chu; Lai, Hui-Yu; Chen, Minhui; Ho, Esther Shih-Chu

doi:10.1016/s1028-4559(09)60188-1

Cited by 46 publications

(42 citation statements)

References 3 publications

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“…We found that the most prominent indicator for amniocentesis was the maternal age. This is in accordance with the findings of Yang et al (7), but in contrast to the finding of some other authors who found that the most prominent indicator for amniocentesis was an abnormal maternal serum-screening test or abnormal ultrasound findings (6,8,9).…”

Section: Discussion:-supporting

confidence: 92%

Prenatal Diagnosis With Genetic Counseling in Uhc Split, Croatia.

Vulić¹,

Čulić²,

Miskovic³

et al. 2017

IJAR

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Section: Discussion:-supporting

confidence: 92%

Prenatal Diagnosis With Genetic Counseling in Uhc Split, Croatia.

Vulić¹,

Čulić²,

Miskovic³

et al. 2017

IJAR

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“…In the 1980s amniocentesis was used primarily for those in advanced maternal age groups, at least 35 yr old. So far, other recent reports have still shown that prenatal diagnosis of chromosomal disorders has been performed mainly for pregnancies at an advanced maternal age [8,9]. This study found Sung-Hee Han, Jeong-Wook An, Gyu-Young Jeong, et al…”

Section: Discussionmentioning

confidence: 57%

“…(2.9%) [9]. A number of cases varies in many studies but, to our knowledge, this study constitutes the largest report in (319 cases), 2.5% (9 cases), and 8.6% (31 cases), respectively.…”

Section: Discussionmentioning

confidence: 58%

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

Han

Jeong³

et al. 2008

Ann Lab Med

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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...

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“…Up until now, reports from other countries have still shown that prenatal diagnosis of chromosomal disorders is performed mainly for gravidas of an advanced maternal age. 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).…”

Section: Discussionmentioning

confidence: 81%

“…The results of prenatal diagnosis of AS, consisting of various numbers of cases, have revealed that the incidence of fetal chromosomal abnormalities ranges between 1.0 and 6.7% (Simpson et al, 1976;Karaoguz et al, 2006;Tseng et al, 2006), higher than the incidence of chromosomal disorders in live newborns (0.5%; Cerrillo Hinojosa et al, 2009). However, this study found that 206 of 2500 cases (8.24%) had chromosomal abnormalities, a result that was higher than previously reported.…”

Section: Discussionmentioning

confidence: 99%

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

An¹,

Ll²,

Rx³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue cultures of 2500 second-trimester amniotic fluid samples. The most common indication for genetic AS was abnormal maternal serumscreening test (69.56%), followed by advanced maternal age (15.04%). Chromosomal abnormality was detected in 206 (8.24%) of the 2500 samples. The detection rate of abnormal karyotypes was 62.5% in the group in which one member of the couple was a carrier of a chromosome abnormality; in the group having a positive result from noninvasive prenatal testing, the frequency was 50%. To determine the origin of fetal chromosome abnormal karyotype, 45 fetuses were analyzed. Of these, 20 were found to be de novo abnormalities and 25 were familial. The frequency and proportion of abnormal karyotypes varied substantially across different maternal AS indications. Knowing the origin and type of chromosomal abnormality would help determine termination or continuation of the pregnancy.

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Detection of Chromosome Aberrations in the Second Trimester Using Genetic Amniocentesis: Experience During 1995-2004

Abstract: For daily practice, our data could offer a database for proper genetic counseling, such as termination issues and future pregnancies.

Cited by 46 publications

References 3 publications

Prenatal Diagnosis With Genetic Counseling in Uhc Split, Croatia.

Prenatal Diagnosis With Genetic Counseling in Uhc Split, Croatia.

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

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

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