PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA
Background. Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008. Me...
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| Format: | Article |
| Language: | English |
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Slovenian Medical Association
2018-02-01
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| Series: | Zdravniški Vestnik |
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| Online Access: | http://vestnik.szd.si/index.php/ZdravVest/article/view/2761 |
| _version_ | 1811319055132393472 |
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| author | Karin Writzl Alenka Veble Jerneja Kmecl Borut Peterlin PGD skupina |
| author_facet | Karin Writzl Alenka Veble Jerneja Kmecl Borut Peterlin PGD skupina |
| author_sort | Karin Writzl |
| collection | DOAJ |
| description | Background. Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008.
Methods. The retrospective analysis includes sixty cycles performed in 34 couples enrolled in the PGD programe. Embryos were biopsied on the third day and the genetic analysis was performed using the FISH and PCR methods. Embryo transfers were carried out on the fifth day.
Results. The main indications were chromosomal abnormalities (67 %), followed by recurrent miscarriages (16 %), autosomal dominant and recessive diseases (9 %), and X-linked diseases (6 %). Sixty cycles were performed and 48 embryo transfer procedures. There were 15 clinical pregnancies resulting in clinical pregnancy rate 25 % per cycle and 37.5 % per embryo transfer. A total of eight unaffected children were born, and two pregnancies are still ongoing.
Conclusions. PGD is technically a very challenging procedure. Superior knowledge and communication between geneticists and reproductive medicine scientists is mandatory for successful PGD procedures. PGD has gained a place among the choices offered at Gynecology Clinic Ljubljana to couples at risk of transmission of genetic disease. |
| first_indexed | 2024-04-13T12:35:42Z |
| format | Article |
| id | doaj.art-b9652f02fed347418855739f432469fc |
| institution | Directory Open Access Journal |
| issn | 1318-0347 1581-0224 |
| language | English |
| last_indexed | 2024-04-13T12:35:42Z |
| publishDate | 2018-02-01 |
| publisher | Slovenian Medical Association |
| record_format | Article |
| series | Zdravniški Vestnik |
| spelling | doaj.art-b9652f02fed347418855739f432469fc2022-12-22T02:46:40ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242018-02-0178010.6016/ZdravVestn.27612114PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANAKarin Writzl0Alenka Veble1Jerneja Kmecl2Borut Peterlin3PGD skupina4Inštitut za medicinsko genetiko Ginekološka klinika Univerzitetni klinični center Ljubljana Šlajmerjeva 3 1000 LjubljanaInštitut za medicinsko genetiko Ginekološka klinika Univerzitetni klinični center Ljubljana Šlajmerjeva 3 1000 LjubljanaInštitut za medicinsko genetiko Ginekološka klinika Univerzitetni klinični center Ljubljana Šlajmerjeva 3 1000 LjubljanaInštitut za medicinsko genetiko Ginekološka klinika Univerzitetni klinični center Ljubljana Šlajmerjeva 3 1000 LjubljanaPGD skupina: Barbara Dolničar, Paula Duff, Ksenija Geršak, Blanka Gradišek, Tatjana Ozvaldič, Barbara Požlep, Bernarda Prosenc, Milica Puklavec, Nataša Teran, Tomaž Tomaževič, Brigita Valentinčič- Gruden, Vislava Velikonja Globevnik, Irma Virant-Klun, Marija Volk, Branko Zorn Ginekološka klinika Univerzitetni klinični center Ljubljana Šlajmerjeva 3 1525 LjubljanaBackground. Preimplantation genetic diagnosis offers early investigation of embryos in couples with a high risk for offspring affected by a genetic disease. We report indications and results associated with the PGD program conducted at Gynecology Clinic Ljubljana from June 2004 to December 2008. Methods. The retrospective analysis includes sixty cycles performed in 34 couples enrolled in the PGD programe. Embryos were biopsied on the third day and the genetic analysis was performed using the FISH and PCR methods. Embryo transfers were carried out on the fifth day. Results. The main indications were chromosomal abnormalities (67 %), followed by recurrent miscarriages (16 %), autosomal dominant and recessive diseases (9 %), and X-linked diseases (6 %). Sixty cycles were performed and 48 embryo transfer procedures. There were 15 clinical pregnancies resulting in clinical pregnancy rate 25 % per cycle and 37.5 % per embryo transfer. A total of eight unaffected children were born, and two pregnancies are still ongoing. Conclusions. PGD is technically a very challenging procedure. Superior knowledge and communication between geneticists and reproductive medicine scientists is mandatory for successful PGD procedures. PGD has gained a place among the choices offered at Gynecology Clinic Ljubljana to couples at risk of transmission of genetic disease.http://vestnik.szd.si/index.php/ZdravVest/article/view/2761predimplantacijska genetska diagnostikaOBMPFISHPCRnosečnost |
| spellingShingle | Karin Writzl Alenka Veble Jerneja Kmecl Borut Peterlin PGD skupina PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA Zdravniški Vestnik predimplantacijska genetska diagnostika OBMP FISH PCR nosečnost |
| title | PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA |
| title_full | PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA |
| title_fullStr | PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA |
| title_full_unstemmed | PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA |
| title_short | PREIMPLANTATION GENETIC DIAGNOSIS – 4 YEARS’ EXPERIENCE AT THE DEPARTMENT OF GYNECOLOGY, UNIVERSITY MEDICAL CENTRE LJUBLJANA |
| title_sort | preimplantation genetic diagnosis 4 years experience at the department of gynecology university medical centre ljubljana |
| topic | predimplantacijska genetska diagnostika OBMP FISH PCR nosečnost |
| url | http://vestnik.szd.si/index.php/ZdravVest/article/view/2761 |
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