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Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?
As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293020/ https://www.ncbi.nlm.nih.gov/pubmed/22281113 http://dx.doi.org/10.1186/1755-8166-5-7 |
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author | Kooper, Angelique JA Pieters, Jacqueline JPM Faas, Brigitte HW Hoefsloot, Lies H van der Burgt, Ineke Zondervan, Hans A Smits, Arie PT |
author_facet | Kooper, Angelique JA Pieters, Jacqueline JPM Faas, Brigitte HW Hoefsloot, Lies H van der Burgt, Ineke Zondervan, Hans A Smits, Arie PT |
author_sort | Kooper, Angelique JA |
collection | PubMed |
description | As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8%) abnormal cases, including 12 cases (2.4%) with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR. |
format | Online Article Text |
id | pubmed-3293020 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-32930202012-03-05 Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? Kooper, Angelique JA Pieters, Jacqueline JPM Faas, Brigitte HW Hoefsloot, Lies H van der Burgt, Ineke Zondervan, Hans A Smits, Arie PT Mol Cytogenet Research As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8%) abnormal cases, including 12 cases (2.4%) with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR. BioMed Central 2012-01-27 /pmc/articles/PMC3293020/ /pubmed/22281113 http://dx.doi.org/10.1186/1755-8166-5-7 Text en Copyright ©2012 Kooper et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Kooper, Angelique JA Pieters, Jacqueline JPM Faas, Brigitte HW Hoefsloot, Lies H van der Burgt, Ineke Zondervan, Hans A Smits, Arie PT Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
title | Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
title_full | Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
title_fullStr | Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
title_full_unstemmed | Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
title_short | Is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
title_sort | is routine karyotyping required in prenatal samples with a molecular or metabolic referral? |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3293020/ https://www.ncbi.nlm.nih.gov/pubmed/22281113 http://dx.doi.org/10.1186/1755-8166-5-7 |
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