Literature DB >> 22071893

Preimplantation genetic diagnosis in female and male carriers of reciprocal translocations: clinical outcome until delivery of 312 cycles.

Kathelijn Keymolen1, Catherine Staessen, Willem Verpoest, Inge Liebaers, Maryse Bonduelle.   

Abstract

Carriers of reciprocal translocations (rcp) are known to be at risk for reproductive difficulties. Preimplantation genetic diagnosis (PGD) is one of the options these carriers have to try in order to fulfil their desire to have a child. In the present study, we retrospectively looked at the results of 11 years (1997-2007) of PGD for rcp in our center to improve the reproductive counseling of these carriers. During this period 312 cycles were performed for 69 male and 73 female carriers. The mean female age was 32.8 years, the mean male age 35.8 years. Most carriers were diagnosed with a translocation because of fertility problems or recurrent miscarriages, and most of them opted for PGD to avoid these problems. In 150 of the 312 cycles, embryo transfer (ET) was feasible and 40 women had a successful singleton or twin pregnancy. This gives a live birth delivery rate of 12.8% per started cycle and of 26.7% per cycle with ET. Owing to the large number of abnormal embryos, PGD cycles for rcp often lead to cancellation of ET, explaining the low success rate when expressed per cycle with oocyte pick-up. Once ET was feasible, the live birth delivery rate was similar to that of PGD in general at our center. PGD is therefore an established option for specific reciprocal translocation carriers.

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Year:  2011        PMID: 22071893      PMCID: PMC3306857          DOI: 10.1038/ejhg.2011.208

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  26 in total

Review 1.  Aspects of biopsy procedures prior to preimplantation genetic diagnosis.

Authors:  A De Vos; A Van Steirteghem
Journal:  Prenat Diagn       Date:  2001-09       Impact factor: 3.050

2.  ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008.

Authors:  J C Harper; E Coonen; M De Rycke; G Harton; C Moutou; T Pehlivan; J Traeger-Synodinos; M C Van Rij; V Goossens
Journal:  Hum Reprod       Date:  2010-09-02       Impact factor: 6.918

3.  Clinical outcomes of preimplantation genetic diagnosis (PGD) and analysis of meiotic segregation modes in reciprocal translocation carriers.

Authors:  Duck Sung Ko; Jae Won Cho; So Yeon Park; Jin Young Kim; Mi Kyoung Koong; In Ok Song; Inn Soo Kang; Chun Kyu Lim
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

4.  ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD.

Authors:  G L Harton; J C Harper; E Coonen; T Pehlivan; K Vesela; L Wilton
Journal:  Hum Reprod       Date:  2010-10-21       Impact factor: 6.918

5.  ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.

Authors:  V Goossens; G Harton; C Moutou; J Traeger-Synodinos; M Van Rij; J C Harper
Journal:  Hum Reprod       Date:  2009-04-29       Impact factor: 6.918

6.  Cumulative reproductive outcome after preimplantation genetic diagnosis: a report on 1498 couples.

Authors:  W Verpoest; P Haentjens; M De Rycke; C Staessen; K Sermon; M Bonduelle; P Devroey; I Liebaers
Journal:  Hum Reprod       Date:  2009-08-03       Impact factor: 6.918

Review 7.  The prevalence of congenital anomalies in Europe.

Authors:  Helen Dolk; Maria Loane; Ester Garne
Journal:  Adv Exp Med Biol       Date:  2010       Impact factor: 2.622

8.  Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to child.

Authors:  Marjan De Rademaeker; Willem Verpoest; Martine De Rycke; Sara Seneca; Karen Sermon; Sonja Desmyttere; Maryse Bonduelle; Josianne Van der Elst; Paul Devroey; Inge Liebaers
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

9.  Chromosomal abnormalities in couples with reproductive disorders.

Authors:  Juan Pablo Meza-Espinoza; Lilia Ortiz Anguiano; Horacio Rivera
Journal:  Gynecol Obstet Invest       Date:  2008-07-22       Impact factor: 2.031

10.  Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses.

Authors:  Jill Fischer; Pere Colls; Tomas Escudero; Santiago Munné
Journal:  Fertil Steril       Date:  2009-12-24       Impact factor: 7.329

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  11 in total

1.  Reproductive outcomes in men with karyotype abnormalities: Case report and review of the literature.

Authors:  Taylor P Kohn; Raul Clavijo; Ranjith Ramasamy; Tariq Hakky; Aravind Candrashekar; Dolores J Lamb; Larry I Lipshultz
Journal:  Can Urol Assoc J       Date:  2015-09-09       Impact factor: 1.862

2.  Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.

Authors:  Paul N Scriven; Frances A Flinter; Yakoub Khalaf; Alison Lashwood; Caroline Mackie Ogilvie
Journal:  Eur J Hum Genet       Date:  2013-02-06       Impact factor: 4.246

3.  Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss.

Authors:  Keiichi Kato; Naoki Aoyama; Nami Kawasaki; Hiroko Hayashi; Tang Xiaohui; Takashi Abe; Tomoko Kuroda
Journal:  J Hum Genet       Date:  2016-05-19       Impact factor: 3.172

4.  Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).

Authors:  E Mateu-Brull; L Rodrigo; V Peinado; A Mercader; I Campos-Galindo; F Bronet; S García-Herrero; M Florensa; M Milán; C Rubio
Journal:  J Assist Reprod Genet       Date:  2019-11-06       Impact factor: 3.412

5.  Analysis of clinical outcomes and meiotic segregation modes following preimplantation genetic testing for structural rearrangements using aCGH/NGS in couples with balanced chromosome rearrangement.

Authors:  Tatsuya Nakano; Michiko Ammae; Manabu Satoh; Satoshi Mizuno; Yoshiharu Nakaoka; Yoshiharu Morimoto
Journal:  Reprod Med Biol       Date:  2022-06-29

Review 6.  Genetic counseling for men with recurrent pregnancy loss or recurrent implantation failure due to abnormal sperm chromosomal aneuploidy.

Authors:  Taylor P Kohn; Jaden R Kohn; Sandra Darilek; Ranjith Ramasamy; Larry Lipshultz
Journal:  J Assist Reprod Genet       Date:  2016-03-28       Impact factor: 3.412

7.  Investigation of the interchromosomal effects in male carriers with structural chromosomal abnormalities using FISH.

Authors:  Özgür Balasar; Hasan Acar
Journal:  Turk J Urol       Date:  2020-03-14

Review 8.  Recurrent pregnancy loss: current perspectives.

Authors:  Hady El Hachem; Vincent Crepaux; Pascale May-Panloup; Philippe Descamps; Guillaume Legendre; Pierre-Emmanuel Bouet
Journal:  Int J Womens Health       Date:  2017-05-17

9.  The impact of patient, embryo, and translocation characteristics on the ploidy status of young couples undergoing preimplantation genetic testing for structural rearrangements (PGT-SR) by next generation sequencing (NGS).

Authors:  Fazilet Kubra Boynukalin; Meral Gultomruk; Niyazi Emre Turgut; Carmen Rubio; Lorena Rodrigo; Zalihe Yarkiner; Selen Ecemis; Guvenc Karlikaya; Necati Findikli; Mustafa Bahceci
Journal:  J Assist Reprod Genet       Date:  2021-01-04       Impact factor: 3.412

10.  Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

Authors:  Joyce C Harper; Joep Geraedts; Pascal Borry; Martina C Cornel; Wybo Dondorp; Luca Gianaroli; Gary Harton; Tanya Milachich; Helena Kääriäinen; Inge Liebaers; Michael Morris; Jorge Sequeiros; Karen Sermon; Françoise Shenfield; Heather Skirton; Sirpa Soini; Claudia Spits; Anna Veiga; Joris Robert Vermeesch; Stéphane Viville; Guido de Wert; Milan Macek
Journal:  Eur J Hum Genet       Date:  2013-11       Impact factor: 4.246

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