Chromosomal aberrations in couples with pregnancy loss: A retrospective study
Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss. The chromosomal abnormality, especially balanced translocation rearrangement in either parent, is the important cause of recurren...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2018-01-01
|
| Series: | Journal of Human Reproductive Sciences |
| Subjects: | |
| Online Access: | http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2018;volume=11;issue=3;spage=247;epage=253;aulast=Pal |
| _version_ | 1818886729933783040 |
|---|---|
| author | Asoke K Pal Prafulla S Ambulkar Jwalant E Waghmare Vandana Wankhede Moreshwar R Shende Aaditya M Tarnekar |
| author_facet | Asoke K Pal Prafulla S Ambulkar Jwalant E Waghmare Vandana Wankhede Moreshwar R Shende Aaditya M Tarnekar |
| author_sort | Asoke K Pal |
| collection | DOAJ |
| description | Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss. The chromosomal abnormality, especially balanced translocation rearrangement in either parent, is the important cause of recurrent spontaneous abortion. Aims: The aim of this study was to investigate the role and prevalence of chromosomal anomalies in recurrent miscarriages. The results will be helpful for counseling and make the decision for alternative options and precaution for the affected couples and also support to make a national database. Settings and Design: The present retrospective study was carried out in 172 couples (344 individuals) having the history of three or more recurrent spontaneous abortion. The cytogenetic analysis was done in all 344 individuals using G-banding and karyotyping. Results: Out of 172 couples, 17 couples (9.88%) had different types of structural or numerical chromosomal abnormalities. The structural aberrations were observed in 15 (8.72%) couples, and numerical aberrations were seen in 2 (1.16%) couples. Out of 17 couples, 8 (47.05%) had balanced translocations, 2 (11.76%) had the Robertsonian translocation, 5 (29.41%) had the pericentric inversion of chromosome 8, 9, and Y, and only 2 (11.76%) women showed sex chromosome numerical aberrations. Conclusions: Cytogenetic analysis should be an important routine investigation in couples with repeated miscarriages. Cytogenetic analysis is essential and helpful for genetic counseling to take precaution and implementing proper reproductive alternatives. Studies on the genetic basis of pregnancy loss should be taken up to generate data on these issues from different regions. |
| first_indexed | 2024-12-19T16:25:58Z |
| format | Article |
| id | doaj.art-8376edf5455445e9b0f8f8b7c915a9f4 |
| institution | Directory Open Access Journal |
| issn | 0974-1208 1998-4766 |
| language | English |
| last_indexed | 2024-12-19T16:25:58Z |
| publishDate | 2018-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Human Reproductive Sciences |
| spelling | doaj.art-8376edf5455445e9b0f8f8b7c915a9f42022-12-21T20:14:21ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662018-01-0111324725310.4103/jhrs.JHRS_124_17Chromosomal aberrations in couples with pregnancy loss: A retrospective studyAsoke K PalPrafulla S AmbulkarJwalant E WaghmareVandana WankhedeMoreshwar R ShendeAaditya M TarnekarBackground: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss. The chromosomal abnormality, especially balanced translocation rearrangement in either parent, is the important cause of recurrent spontaneous abortion. Aims: The aim of this study was to investigate the role and prevalence of chromosomal anomalies in recurrent miscarriages. The results will be helpful for counseling and make the decision for alternative options and precaution for the affected couples and also support to make a national database. Settings and Design: The present retrospective study was carried out in 172 couples (344 individuals) having the history of three or more recurrent spontaneous abortion. The cytogenetic analysis was done in all 344 individuals using G-banding and karyotyping. Results: Out of 172 couples, 17 couples (9.88%) had different types of structural or numerical chromosomal abnormalities. The structural aberrations were observed in 15 (8.72%) couples, and numerical aberrations were seen in 2 (1.16%) couples. Out of 17 couples, 8 (47.05%) had balanced translocations, 2 (11.76%) had the Robertsonian translocation, 5 (29.41%) had the pericentric inversion of chromosome 8, 9, and Y, and only 2 (11.76%) women showed sex chromosome numerical aberrations. Conclusions: Cytogenetic analysis should be an important routine investigation in couples with repeated miscarriages. Cytogenetic analysis is essential and helpful for genetic counseling to take precaution and implementing proper reproductive alternatives. Studies on the genetic basis of pregnancy loss should be taken up to generate data on these issues from different regions.http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2018;volume=11;issue=3;spage=247;epage=253;aulast=PalChromosomal abnormalitiesgenetic counselingrecurrent pregnancy loss |
| spellingShingle | Asoke K Pal Prafulla S Ambulkar Jwalant E Waghmare Vandana Wankhede Moreshwar R Shende Aaditya M Tarnekar Chromosomal aberrations in couples with pregnancy loss: A retrospective study Journal of Human Reproductive Sciences Chromosomal abnormalities genetic counseling recurrent pregnancy loss |
| title | Chromosomal aberrations in couples with pregnancy loss: A retrospective study |
| title_full | Chromosomal aberrations in couples with pregnancy loss: A retrospective study |
| title_fullStr | Chromosomal aberrations in couples with pregnancy loss: A retrospective study |
| title_full_unstemmed | Chromosomal aberrations in couples with pregnancy loss: A retrospective study |
| title_short | Chromosomal aberrations in couples with pregnancy loss: A retrospective study |
| title_sort | chromosomal aberrations in couples with pregnancy loss a retrospective study |
| topic | Chromosomal abnormalities genetic counseling recurrent pregnancy loss |
| url | http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2018;volume=11;issue=3;spage=247;epage=253;aulast=Pal |
| work_keys_str_mv | AT asokekpal chromosomalaberrationsincoupleswithpregnancylossaretrospectivestudy AT prafullasambulkar chromosomalaberrationsincoupleswithpregnancylossaretrospectivestudy AT jwalantewaghmare chromosomalaberrationsincoupleswithpregnancylossaretrospectivestudy AT vandanawankhede chromosomalaberrationsincoupleswithpregnancylossaretrospectivestudy AT moreshwarrshende chromosomalaberrationsincoupleswithpregnancylossaretrospectivestudy AT aadityamtarnekar chromosomalaberrationsincoupleswithpregnancylossaretrospectivestudy |