Clinical and cytogenetic results of a large series of amniocentesis cases from <scp>T</scp>urkey: Report of 6124 cases

Ocak, Zeynep; Özlü, Tülay; Yazicioglu, H. F.; Özyurt, Osman; Aygün, Mehmet

doi:10.1111/jog.12144

Cited by 26 publications

(23 citation statements)

References 9 publications

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“…For a better comparison with our study, we analysed the chromosomal abnormality rates of these markers in the group that had abnormal ultrasound fi ndings. Th is analysis demonstrated that the detection rates of chromosomal abnormalities in their studies increased to 12.8, 8.1, 7 and 16.7%, respectively, consistent with our fi ndings (Gaudry Ocak et al (2013) 6,124 3.6 29 56 11.5 AMA, advanced maternal age; MSS, abnormal maternal serum screening; family history, family history of chromosomal abnormality.…”

Section: Discussionsupporting

confidence: 91%

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience

Ekin

Gezer

Taner

et al. 2014

Journal of Obstetrics and Gynaecology

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The aim of our study was to evaluate the incidences and chromosomal abnormality detection rates of various indications for genetic amniocentesis. We retrospectively analysed 6,142 amniocentesis cases performed in a single centre between January 2007 and April 2013. We assessed the indications for prenatal diagnosis, fetal karyotypes, maternal ages, fetal ultrasound findings and maternal serum screening results. The most common indication for genetic amniocentesis was an abnormal maternal serum-screening test (36.6%), followed by advanced maternal age (28%), advanced maternal age and an abnormal maternal serum screening test (14.9%) and abnormal ultrasound findings (11.2%). The highest positive predictive values obtained from the indications included abnormal ultrasound findings and abnormal maternal serum screening test (12.9%) and advanced maternal age (12.2%). Although advanced maternal age and abnormal maternal serum screening tests were the most common indicators, their association with abnormal ultrasound findings should be identified to increase the efficacy of genetic amniocentesis.

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Section: Discussionsupporting

confidence: 91%

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience

Ekin

Gezer

Taner

et al. 2014

Journal of Obstetrics and Gynaecology

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“…Among these, 33.00% (68/206) were numerical abnormalities, 19.90% (41/206) were structural abnormalities, and 47.09% (97/206) were polymorphic variants (clinically insignificant heterochromatin area chromosomal aberrations that were not expected to have any phenotypic effects). The most frequently observed polymorphism was an increase in the heterochromatin region of chromosome 1, which was similar to the findings of Ocak et al (2014), followed by a pericentric inversion on chromosome 9.…”

Section: Resultssupporting

confidence: 79%

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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“…(reviewed in Leung et al ) have indicated that about 1% of all prenatal samples would have a chromosomal abnormality not detected by rapid aneuploidy tests, of which one third may have significant risk of serious phenotypic consequences. In our study, the most common change missed by Prenatal BoBs was polymorphisms of heterochromatin regions which are clinically insignificant . However, Prenatal BoBs identified three microdeletions on prenatal samples, which were missed by KT and was successful on four prenatal samples for which KT failed.…”

Section: Discussionmentioning

confidence: 99%

“…Despite the above-mentioned advantages, five structural changes (reciprocal translocation, ring chromosomes and isodicentric chromosomes) In our study, the most common change missed by Prenatal BoBs was polymorphisms of heterochromatin regions which are clinically insignificant. 31 However, Prenatal BoBs identified three microdeletions on prenatal samples, which were missed by KT and was successful on four prenatal samples for which KT failed. In addition, low-grade mosaics 29 and polyploidy 16 cannot be identified by Prenatal BoBs.…”

Section: Discussionmentioning

confidence: 99%

Utility and performance of bacterial artificial chromosomes‐on‐beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples

Rose¹,

Venkatesh²,

Pietilä³

et al. 2019

J of Obstet and Gynaecol

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Aim Chromosome analysis of prenatal samples and products of conception (POC) has conventionally been done by karyotyping (KT). Shortcomings of KT like high turnaround time and culture failure led to technology innovations, such as the bacterial artificial chromosomes (BAC)s‐on‐Beads (BoBs)‐based tests, Prenatal BoBs (prenatal samples) and KaryoLite BoBs (POC samples). In the present study, we validated and evaluated the utility of each test on prenatal, POC and blood samples. Methods Study A (n = 305; 259 prenatal + 46 blood/POC) and Study B (n = 176; 146 POC/chorionic vill + 30 blood/amniotic fluid) samples were analyzed using Prenatal and KaryoLite BoBs kits, respectively. KT, array‐based Comparative Genomic Hybridization (arrayCGH) and fluorescence in situ hybridization (FISH) were used for comparison of results. Ability of KaryoLite BoBs to identify ring chromosomes was tested. Results Prenatal BoBs had zero test failure rate and results of all samples were concordant with KT results. Totally four microdeletions were identified by Prenatal BoBs but not by KT. In Study B, all but two POC samples (one triploid and one tetraploid) were concordant with KT and arrayCGH. Partial chromosomal imbalance detection rate was ~64% and KaryoLite BoBs indicated the presence of a ring chromosome in all four cases. The failure rate of KaryoLite BoBs was 3%. Conclusion We conclude that Prenatal BoBs (common aneuploidies and nine microdeletions) together with KT constitutes more comprehensive prenatal testing compared to FISH and KT. KaryoLite BoBs for aneuploidies of all chromosomes is highly successful in POC analysis and the ability to indicate presence of ring chromosomes improves its clinical sensitivity. Both tests are robust and could also be used for different specimens.

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Clinical and cytogenetic results of a large series of amniocentesis cases from Turkey: Report of 6124 cases

Abstract: In our study, abnormal MSS (and among these, abnormal triple test result) was the most frequent indication for amniocentesis. Our overall culture success rate was 98.8%. Frequency of major chromosomal abnormality was 3.2% and trisomy 21 was the most frequent abnormality.

Cited by 26 publications

References 9 publications

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience

Cytogenetic analysis of 6,142 amniocentesis cases: A 6-year single centre experience

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

Utility and performance of bacterial artificial chromosomes‐on‐beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples

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