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Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory

BACKGROUND: Cytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with th...

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Autores principales: Wang, Boris T, Chong, Thomas P, Boyar, Fatih Z, Kopita, Kimberly A, Ross, Leslie P, El-Naggar, Mohamed M, Sahoo, Trilochan, Wang, Jia-Chi, Hemmat, Morteza, Haddadin, Mary H, Owen, Renius, Anguiano, Arturo L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049495/
https://www.ncbi.nlm.nih.gov/pubmed/24914406
http://dx.doi.org/10.1186/1755-8166-7-33
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author Wang, Boris T
Chong, Thomas P
Boyar, Fatih Z
Kopita, Kimberly A
Ross, Leslie P
El-Naggar, Mohamed M
Sahoo, Trilochan
Wang, Jia-Chi
Hemmat, Morteza
Haddadin, Mary H
Owen, Renius
Anguiano, Arturo L
author_facet Wang, Boris T
Chong, Thomas P
Boyar, Fatih Z
Kopita, Kimberly A
Ross, Leslie P
El-Naggar, Mohamed M
Sahoo, Trilochan
Wang, Jia-Chi
Hemmat, Morteza
Haddadin, Mary H
Owen, Renius
Anguiano, Arturo L
author_sort Wang, Boris T
collection PubMed
description BACKGROUND: Cytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with those found by Oligo-SNP chromosomal microarray analysis (CMA). We evaluated the benefit of CMA testing in cases of failed culture growth. METHODS: Conventional cytogenetic results of 5457 consecutive POC specimens were reviewed and categorized as placental villi, fetal parts, and unspecified POC tissue. The CMA was performed on 268 cases. Of those, 32 cases had concurrent G-banding results. The remaining 236 cases included 107 cases with culture failure and 129 cases evaluated by CMA alone. RESULTS: The overall POC culture success rate was 75%, with the lowest for fetal parts (37.4%) and the highest for placental villi (81%). The abnormality rate was 58% for placental villi, but only 25% for fetal parts. Of the abnormalities detected, the most common were aneuploidies, including trisomy 16, triploidy, monosomy X, trisomy 22, trisomy 21 and trisomy 15, while the least encountered aneuploidies were trisomy 1, trisomy 19 and monosomies (except monosomy 21). Overall, POC specimens studied by CMA were successful in 89.6% of cases and yielded a 44.6% abnormality rate. CONCLUSIONS: Placental villi yielded higher rates of culture success and a higher percentage of abnormal karyotypes than did other specimen types. The Oligo-SNP CMA method has demonstrated a viable alternative to the G-banding method in view of its advantages in detection of submicroscopic genomic aberrations, shorter turnaround time due to elimination of time required for culture and a higher test success rate.
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spelling pubmed-40494952014-06-10 Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory Wang, Boris T Chong, Thomas P Boyar, Fatih Z Kopita, Kimberly A Ross, Leslie P El-Naggar, Mohamed M Sahoo, Trilochan Wang, Jia-Chi Hemmat, Morteza Haddadin, Mary H Owen, Renius Anguiano, Arturo L Mol Cytogenet Research BACKGROUND: Cytogenetic evaluation of products of conception (POC) for chromosomal abnormalities is central to determining the cause of pregnancy loss. We compared the test success rates in various specimen types and the frequencies of chromosomal abnormalities detected by G-banding analysis with those found by Oligo-SNP chromosomal microarray analysis (CMA). We evaluated the benefit of CMA testing in cases of failed culture growth. METHODS: Conventional cytogenetic results of 5457 consecutive POC specimens were reviewed and categorized as placental villi, fetal parts, and unspecified POC tissue. The CMA was performed on 268 cases. Of those, 32 cases had concurrent G-banding results. The remaining 236 cases included 107 cases with culture failure and 129 cases evaluated by CMA alone. RESULTS: The overall POC culture success rate was 75%, with the lowest for fetal parts (37.4%) and the highest for placental villi (81%). The abnormality rate was 58% for placental villi, but only 25% for fetal parts. Of the abnormalities detected, the most common were aneuploidies, including trisomy 16, triploidy, monosomy X, trisomy 22, trisomy 21 and trisomy 15, while the least encountered aneuploidies were trisomy 1, trisomy 19 and monosomies (except monosomy 21). Overall, POC specimens studied by CMA were successful in 89.6% of cases and yielded a 44.6% abnormality rate. CONCLUSIONS: Placental villi yielded higher rates of culture success and a higher percentage of abnormal karyotypes than did other specimen types. The Oligo-SNP CMA method has demonstrated a viable alternative to the G-banding method in view of its advantages in detection of submicroscopic genomic aberrations, shorter turnaround time due to elimination of time required for culture and a higher test success rate. BioMed Central 2014-05-22 /pmc/articles/PMC4049495/ /pubmed/24914406 http://dx.doi.org/10.1186/1755-8166-7-33 Text en Copyright © 2014 Wang et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/4.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research
Wang, Boris T
Chong, Thomas P
Boyar, Fatih Z
Kopita, Kimberly A
Ross, Leslie P
El-Naggar, Mohamed M
Sahoo, Trilochan
Wang, Jia-Chi
Hemmat, Morteza
Haddadin, Mary H
Owen, Renius
Anguiano, Arturo L
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
title Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
title_full Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
title_fullStr Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
title_full_unstemmed Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
title_short Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
title_sort abnormalities in spontaneous abortions detected by g-banding and chromosomal microarray analysis (cma) at a national reference laboratory
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049495/
https://www.ncbi.nlm.nih.gov/pubmed/24914406
http://dx.doi.org/10.1186/1755-8166-7-33
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