Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss

Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of chromosomal constitution in miscarriages from the same couple. Methods Retrospective study of abortion karyotypes in RPL families based on th...

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Veröffentlicht in:Journal of assisted reproduction and genetics 2020-03, Vol.37 (3), p.517-525
Hauptverfasser: Nikitina, T. V., Sazhenova, E. A., Zhigalina, D. I., Tolmacheva, E. N., Sukhanova, N. N., Lebedev, I. N.
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container_issue 3
container_start_page 517
container_title Journal of assisted reproduction and genetics
container_volume 37
creator Nikitina, T. V.
Sazhenova, E. A.
Zhigalina, D. I.
Tolmacheva, E. N.
Sukhanova, N. N.
Lebedev, I. N.
description Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of chromosomal constitution in miscarriages from the same couple. Methods Retrospective study of abortion karyotypes in RPL families based on the mother’s primary or secondary RPL status (563 embryo specimens, 335 samples from primary, and 228 samples from secondary RPL). RPL was defined as two or more consecutive miscarriages. One hundred eight cases of recurrent embryo/fetal loss in 51 families were analyzed to assess the probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in both previous and subsequent pregnancy loss. The karyotypes of abortions were established using standard cytogenetic analysis, as well as interphase fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). Results The frequency of aberrations was 43.9% in abortions from primary RPL versus 52.6% in secondary RPL ( p  = 0.041). Women 35 years of age or older were the main contributors to this difference. The odds ratio of a subsequent abortion having the same karyotype pattern (normal or abnormal) as the previous one was 6.98 ( p  = 0.0013). Conclusion The frequency of abnormalities is higher in abortions from the secondary RPL versus primary RPL group, and this difference is due to the relative deficiency of miscarriages with abnormal karyotypes in older women with primary RPL. The probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in the previous and subsequent abortion is increased significantly compared with chance.
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V. ; Sazhenova, E. A. ; Zhigalina, D. I. ; Tolmacheva, E. N. ; Sukhanova, N. N. ; Lebedev, I. N.</creator><creatorcontrib>Nikitina, T. V. ; Sazhenova, E. A. ; Zhigalina, D. I. ; Tolmacheva, E. N. ; Sukhanova, N. N. ; Lebedev, I. N.</creatorcontrib><description>Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of chromosomal constitution in miscarriages from the same couple. Methods Retrospective study of abortion karyotypes in RPL families based on the mother’s primary or secondary RPL status (563 embryo specimens, 335 samples from primary, and 228 samples from secondary RPL). RPL was defined as two or more consecutive miscarriages. One hundred eight cases of recurrent embryo/fetal loss in 51 families were analyzed to assess the probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in both previous and subsequent pregnancy loss. The karyotypes of abortions were established using standard cytogenetic analysis, as well as interphase fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). Results The frequency of aberrations was 43.9% in abortions from primary RPL versus 52.6% in secondary RPL ( p  = 0.041). Women 35 years of age or older were the main contributors to this difference. The odds ratio of a subsequent abortion having the same karyotype pattern (normal or abnormal) as the previous one was 6.98 ( p  = 0.0013). Conclusion The frequency of abnormalities is higher in abortions from the secondary RPL versus primary RPL group, and this difference is due to the relative deficiency of miscarriages with abnormal karyotypes in older women with primary RPL. The probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in the previous and subsequent abortion is increased significantly compared with chance.</description><identifier>ISSN: 1058-0468</identifier><identifier>EISSN: 1573-7330</identifier><identifier>DOI: 10.1007/s10815-020-01703-y</identifier><identifier>PMID: 32009222</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Abortion ; Abortion, Induced - methods ; Abortion, Spontaneous - diagnosis ; Abortion, Spontaneous - genetics ; Abortion, Spontaneous - pathology ; Adult ; Aged ; Chromosome Aberrations ; Comparative Genomic Hybridization ; Cytogenetic Analysis ; Cytogenetics ; Female ; Fetuses ; Fluorescence in situ hybridization ; Genetics ; Gynecology ; Human Genetics ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Karyotypes ; Karyotyping - methods ; Maternal Age ; Medicine ; Medicine &amp; Public Health ; Miscarriage ; Pregnancy ; Reproductive Medicine</subject><ispartof>Journal of assisted reproduction and genetics, 2020-03, Vol.37 (3), p.517-525</ispartof><rights>Springer Science+Business Media, LLC, part of Springer Nature 2020</rights><rights>Springer Science+Business Media, LLC, part of Springer Nature 2020.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c474t-793efab99af5e35279e3c01e6330c1e06ebde3ea2830f4d42f15f6ff1eeac7703</citedby><cites>FETCH-LOGICAL-c474t-793efab99af5e35279e3c01e6330c1e06ebde3ea2830f4d42f15f6ff1eeac7703</cites><orcidid>0000-0003-3875-3932 ; 0000-0002-4230-6855 ; 0000-0002-0482-8046 ; 0000-0003-2800-8875 ; 0000-0001-6427-3276</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125272/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125272/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,41488,42557,51319,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32009222$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nikitina, T. V.</creatorcontrib><creatorcontrib>Sazhenova, E. A.</creatorcontrib><creatorcontrib>Zhigalina, D. I.</creatorcontrib><creatorcontrib>Tolmacheva, E. N.</creatorcontrib><creatorcontrib>Sukhanova, N. N.</creatorcontrib><creatorcontrib>Lebedev, I. N.</creatorcontrib><title>Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss</title><title>Journal of assisted reproduction and genetics</title><addtitle>J Assist Reprod Genet</addtitle><addtitle>J Assist Reprod Genet</addtitle><description>Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of chromosomal constitution in miscarriages from the same couple. Methods Retrospective study of abortion karyotypes in RPL families based on the mother’s primary or secondary RPL status (563 embryo specimens, 335 samples from primary, and 228 samples from secondary RPL). RPL was defined as two or more consecutive miscarriages. One hundred eight cases of recurrent embryo/fetal loss in 51 families were analyzed to assess the probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in both previous and subsequent pregnancy loss. The karyotypes of abortions were established using standard cytogenetic analysis, as well as interphase fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). Results The frequency of aberrations was 43.9% in abortions from primary RPL versus 52.6% in secondary RPL ( p  = 0.041). Women 35 years of age or older were the main contributors to this difference. The odds ratio of a subsequent abortion having the same karyotype pattern (normal or abnormal) as the previous one was 6.98 ( p  = 0.0013). Conclusion The frequency of abnormalities is higher in abortions from the secondary RPL versus primary RPL group, and this difference is due to the relative deficiency of miscarriages with abnormal karyotypes in older women with primary RPL. The probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in the previous and subsequent abortion is increased significantly compared with chance.</description><subject>Abortion</subject><subject>Abortion, Induced - methods</subject><subject>Abortion, Spontaneous - diagnosis</subject><subject>Abortion, Spontaneous - genetics</subject><subject>Abortion, Spontaneous - pathology</subject><subject>Adult</subject><subject>Aged</subject><subject>Chromosome Aberrations</subject><subject>Comparative Genomic Hybridization</subject><subject>Cytogenetic Analysis</subject><subject>Cytogenetics</subject><subject>Female</subject><subject>Fetuses</subject><subject>Fluorescence in situ hybridization</subject><subject>Genetics</subject><subject>Gynecology</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotype</subject><subject>Karyotypes</subject><subject>Karyotyping - methods</subject><subject>Maternal Age</subject><subject>Medicine</subject><subject>Medicine &amp; Public Health</subject><subject>Miscarriage</subject><subject>Pregnancy</subject><subject>Reproductive Medicine</subject><issn>1058-0468</issn><issn>1573-7330</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9UU1v1DAQtRAVLW3_AAdkiQuX0LEdx8kFCVWloFbiAjcky-uMl1RZe7GTSvn3ne0u5ePAyWO_N2_m-TH2SsA7AWAuioBW6AokVCAMqGp5xk6ENqoySsFzqkG3FdRNe8xelnIHAF0r1Qt2rCSVUsoT9v3G5SVNyxY53rtxdtOQIk-BZ9yim7DnbpXy7rHwIfJtHjbUwF3seUGfYr-7ZfRzzhgnwnEdXfQLH1MpZ-wouLHg-eE8Zd8-Xn29_FTdfrn-fPnhtvK1qafKdAqDW3WdCxqVlqZD5UFgQy68QGhw1aNCJ1sFoe5rGYQOTQgC0XlDxk_Z-73udl5tsPe0SXajPSxrkxvs30gcfth1urdGSBonSeDtQSCnnzOWyW6G4nEcXcQ0FyuVBqVr3RmivvmHepfmHMkesVrdto0RO5bcs3ymf8gYnpYRYHfh2X14lsKzj-HZhZpe_2njqeVXWkRQe0IhKK4x_579H9kHkmiobA</recordid><startdate>20200301</startdate><enddate>20200301</enddate><creator>Nikitina, T. 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V.</au><au>Sazhenova, E. A.</au><au>Zhigalina, D. I.</au><au>Tolmacheva, E. N.</au><au>Sukhanova, N. N.</au><au>Lebedev, I. N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss</atitle><jtitle>Journal of assisted reproduction and genetics</jtitle><stitle>J Assist Reprod Genet</stitle><addtitle>J Assist Reprod Genet</addtitle><date>2020-03-01</date><risdate>2020</risdate><volume>37</volume><issue>3</issue><spage>517</spage><epage>525</epage><pages>517-525</pages><issn>1058-0468</issn><eissn>1573-7330</eissn><abstract>Purpose To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of chromosomal constitution in miscarriages from the same couple. Methods Retrospective study of abortion karyotypes in RPL families based on the mother’s primary or secondary RPL status (563 embryo specimens, 335 samples from primary, and 228 samples from secondary RPL). RPL was defined as two or more consecutive miscarriages. One hundred eight cases of recurrent embryo/fetal loss in 51 families were analyzed to assess the probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in both previous and subsequent pregnancy loss. The karyotypes of abortions were established using standard cytogenetic analysis, as well as interphase fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH). Results The frequency of aberrations was 43.9% in abortions from primary RPL versus 52.6% in secondary RPL ( p  = 0.041). Women 35 years of age or older were the main contributors to this difference. The odds ratio of a subsequent abortion having the same karyotype pattern (normal or abnormal) as the previous one was 6.98 ( p  = 0.0013). Conclusion The frequency of abnormalities is higher in abortions from the secondary RPL versus primary RPL group, and this difference is due to the relative deficiency of miscarriages with abnormal karyotypes in older women with primary RPL. The probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in the previous and subsequent abortion is increased significantly compared with chance.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>32009222</pmid><doi>10.1007/s10815-020-01703-y</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0003-3875-3932</orcidid><orcidid>https://orcid.org/0000-0002-4230-6855</orcidid><orcidid>https://orcid.org/0000-0002-0482-8046</orcidid><orcidid>https://orcid.org/0000-0003-2800-8875</orcidid><orcidid>https://orcid.org/0000-0001-6427-3276</orcidid><oa>free_for_read</oa></addata></record>
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subjects Abortion
Abortion, Induced - methods
Abortion, Spontaneous - diagnosis
Abortion, Spontaneous - genetics
Abortion, Spontaneous - pathology
Adult
Aged
Chromosome Aberrations
Comparative Genomic Hybridization
Cytogenetic Analysis
Cytogenetics
Female
Fetuses
Fluorescence in situ hybridization
Genetics
Gynecology
Human Genetics
Humans
In Situ Hybridization, Fluorescence
Karyotype
Karyotypes
Karyotyping - methods
Maternal Age
Medicine
Medicine & Public Health
Miscarriage
Pregnancy
Reproductive Medicine
title Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss
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