Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report
INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause. An unbalanced karyotype in the conceptus of a couple when one pa...
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| Format: | Article |
| Language: | English |
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Rwanda Biomedical Centre (RBC)/Rwanda Health Communication Center
2023-03-01
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| Series: | Rwanda Medical Journal |
| Subjects: |
| _version_ | 1827973882507689984 |
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| author | N. Dukuze B. Tuyishimire H. Irere B. Iradukunda J. Ndinkabandi C. Nsanzabaganwa J. Mushingantahe L. Mutesa |
| author_facet | N. Dukuze B. Tuyishimire H. Irere B. Iradukunda J. Ndinkabandi C. Nsanzabaganwa J. Mushingantahe L. Mutesa |
| author_sort | N. Dukuze |
| collection | DOAJ |
| description | INTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive
pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural
chromosomal abnormality is an important cause. An unbalanced karyotype in the conceptus of
a couple when one partner has a structural chromosomal abnormality may result in failure to
implant, miscarriage, or pregnancy of a fetus with an unbalanced karyotype.
CASE PRESENTATION: We report a rare case of RSA associated with balanced translocation of
chromosomes. a woman who had four spontaneous abortions, all pregnancy loss happened before
12 weeks of gestation, no other known chronic diseases reported to the family nor medications
taken during pregnancy. The karyotype was 46.XX, t(13p,21p) The abnormal karyotype was not
found in any other chromosomes. Further spectral karyotyping was performed to rule out the
involvement of any other chromosomal aberrations present in the genome.The cytogenetic
analysis of the husband revealed a normal karyotype 46.XY.
CONCLUSION: Couples with more than three miscarriages should be referred to the genetist
for chromosomal analysis for possible hereditary etiology and chromosomal abnormalities
responsible for miscarriages to plan prenatal diagnostics and genetic counseling for subsequent
pregnancies. |
| first_indexed | 2024-04-09T19:46:01Z |
| format | Article |
| id | doaj.art-ed1943e47dd542e5a58e3288142293c6 |
| institution | Directory Open Access Journal |
| issn | 2410-8626 |
| language | English |
| last_indexed | 2024-04-09T19:46:01Z |
| publishDate | 2023-03-01 |
| publisher | Rwanda Biomedical Centre (RBC)/Rwanda Health Communication Center |
| record_format | Article |
| series | Rwanda Medical Journal |
| spelling | doaj.art-ed1943e47dd542e5a58e3288142293c62023-04-03T18:30:03ZengRwanda Biomedical Centre (RBC)/Rwanda Health Communication CenterRwanda Medical Journal2410-86262023-03-01801913https://dx.doi.org/10.4314/rmj.v80i1.17Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case reportN. Dukuze0B. Tuyishimire1H. Irere2B. Iradukunda3J. Ndinkabandi4C. Nsanzabaganwa5J. Mushingantahe6L. Mutesa7Centre for human genetics, School of medicine and pharmacy, college of medicine and health sciences, University of Rwanda; Department of Pediatrics, Rwanda Military Hospital, Kigali, RwandaCentre for human genetics, School of medicine and pharmacy, college of medicine and health sciences, University of Rwanda; Department of Pediatrics, Rwanda Military Hospital, Kigali, RwandaCentre for human genetics, School of medicine and pharmacy, college of medicine and health sciences, University of Rwanda; Department of Pediatrics, Rwanda Military Hospital, Kigali, RwandaCentre for human genetics, School of medicine and pharmacy, college of medicine and health sciences, University of RwandaCentre for human genetics, School of medicine and pharmacy, college of medicine and health sciences, University of RwandaCentre for human genetics, School of medicine and pharmacy, college of medicine and health sciences, University of Rwanda Department of Obstetrics and gynaecology, Rwanda military hospital, Kigali, RwandaCentre for Human Genetics, College of Medicine and Health Sciences, University of Rwanda, Kigali, RwandaINTRODUCTION: Recurrent spontaneous abortion (RSA) is defined as three or more consecutive pregnancy losses before the 20th week of gestation. RSA is often idiopathic, but structural chromosomal abnormality is an important cause. An unbalanced karyotype in the conceptus of a couple when one partner has a structural chromosomal abnormality may result in failure to implant, miscarriage, or pregnancy of a fetus with an unbalanced karyotype. CASE PRESENTATION: We report a rare case of RSA associated with balanced translocation of chromosomes. a woman who had four spontaneous abortions, all pregnancy loss happened before 12 weeks of gestation, no other known chronic diseases reported to the family nor medications taken during pregnancy. The karyotype was 46.XX, t(13p,21p) The abnormal karyotype was not found in any other chromosomes. Further spectral karyotyping was performed to rule out the involvement of any other chromosomal aberrations present in the genome.The cytogenetic analysis of the husband revealed a normal karyotype 46.XY. CONCLUSION: Couples with more than three miscarriages should be referred to the genetist for chromosomal analysis for possible hereditary etiology and chromosomal abnormalities responsible for miscarriages to plan prenatal diagnostics and genetic counseling for subsequent pregnancies.recurrent spontaneous abortionchromosomal abnormalitiescytogenetics analysiskaryotypinggenetic counseling |
| spellingShingle | N. Dukuze B. Tuyishimire H. Irere B. Iradukunda J. Ndinkabandi C. Nsanzabaganwa J. Mushingantahe L. Mutesa Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report Rwanda Medical Journal recurrent spontaneous abortion chromosomal abnormalities cytogenetics analysis karyotyping genetic counseling |
| title | Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report |
| title_full | Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report |
| title_fullStr | Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report |
| title_full_unstemmed | Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report |
| title_short | Recurrent spontaneous abortion related to balanced translocation of chromosomes – A case report |
| title_sort | recurrent spontaneous abortion related to balanced translocation of chromosomes a case report |
| topic | recurrent spontaneous abortion chromosomal abnormalities cytogenetics analysis karyotyping genetic counseling |
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