Frequencies of chromosomal abnormalities at amniocentesis: Over 20 years of cytogenetic analyses in one laboratory

Caron, Lorraine; Tihy, Frédérique; Dallaire, Louis

doi:10.1002/(sici)1096-8628(19990115)82:2<149::aid-ajmg10>3.0.co;2-l

Cited by 38 publications

(28 citation statements)

References 14 publications

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“…The results of fetal cytogenetic abnormalities in our study are similar to those reported in the literature (Caron et al, 1999;Carothers et al, 1999;Quintana et al, 1999). Several studies have shown that Down syndrome is the most common and clinically significant cytogenetic abnormalities detected in prenatal cytogenetic studies (Mathews et al, 1992;Carothers et al, 1999), followed by Edwards Syndrome (Song et al, 1997;Han et al, 2000).…”

Section: Discussionsupporting

confidence: 87%

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

et al. 2008

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The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in Brazil, the information gained in assessing the prognosis of on-going pregnancies or estimating recurrence risks justifies prenatal diagnosis of chromosome abnormalities. We conclude that, in keeping with the policy in most other countries, prenatal cytogenetic analysis is strongly recommended in high-risk pregnancies for fetal abnormalities. However, the unique aspect of this type of study is not its rarity in world terms, but its rarity in Brazil. This argues that Brazilian health policy on prenatal diagnosis requires reforming to make it much more widely available within the public health care sector.

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Section: Discussionsupporting

confidence: 87%

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

et al. 2008

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confidence: 60%

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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“…In the majority of the cases, the parents chose to terminate the pregnancy. The risk of phenotypic abnormality is very low when balanced chromosome rearrangement is inherited from a phenotypically normal carrier parent (Caron et al, 1999); however, some parents may choose to terminate the pregnancy voluntarily if they have concerns regarding future fertility problems for their child.…”

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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Frequencies of chromosomal abnormalities at amniocentesis: Over 20 years of cytogenetic analyses in one laboratory

Cited by 38 publications

References 14 publications

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital

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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