Literature DB >> 19815189

Perspectives of couples with high risk of transmitting genetic disorders.

Anna M Musters1, Moniek Twisk, Nico J Leschot, Cor Oosterwijk, Johanna C Korevaar, Sjoerd Repping, Fulco van der Veen, Mariette Goddijn.   

Abstract

OBJECTIVE: To investigate the preference for preimplantation genetic diagnosis (PGD) as an alternative to prenatal diagnosis (PND) in a large group of couples representing a wide array of genetic disorders. We also investigated the couple's familiarity with PGD and presented time trade-off scenarios for PGD versus PND, as PGD treatment is regularly accompanied by waiting lists.
DESIGN: Questionnaire study.
SETTING: Patient organizations representing genetic disorders. PATIENT(S): A total of 210 couples carrying genetic disorders. MAIN OUTCOME MEASURE(S): Preference for PGD or PND and familiarity with PGD in carrier couples. RESULT(S): Fifteen organizations representing 38 genetic disorders agreed to participate. Nine hundred eighty-three couples responded. In total 210 couples were in their reproductive years (women 18-40 years) and had a desire to conceive. Ninety couples (42%) had never heard of PGD. After they were informed, 127 couples (60%) wanted to have diagnostic testing (PND or PGD) performed. Ninety-four (74%) of these couples preferred testing with PGD. When no waiting list was used 102 couples (80%) preferred PGD. With a 2-year waiting list for PGD, 58 couples (46%) would opt for PGD. CONCLUSION(S): Many carrier couples are unaware of the existence of PGD. When informed, most couples prefer PGD more than PND. The preference for PGD decreases with longer waiting lists. Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

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Year:  2009        PMID: 19815189     DOI: 10.1016/j.fertnstert.2009.08.025

Source DB:  PubMed          Journal:  Fertil Steril        ISSN: 0015-0282            Impact factor:   7.329


  7 in total

Review 1.  Preimplantation genetic diagnosis for inherited neurological disorders.

Authors:  Ilan Tur-Kaspa; Roohi Jeelani; P Murali Doraiswamy
Journal:  Nat Rev Neurol       Date:  2014-05-27       Impact factor: 42.937

2.  Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.

Authors:  Margot G F van Lier; Susanne E Korsse; Elisabeth M H Mathus-Vliegen; Ernst J Kuipers; Ans M W van den Ouweland; Kathleen Vanheusden; Monique E van Leerdam; Anja Wagner
Journal:  Eur J Hum Genet       Date:  2011-08-10       Impact factor: 4.246

3.  Literacy assessment of preimplantation genetic patient education materials exceed national reading levels.

Authors:  Macy L Early; Priyanka Kumar; Arik V Marcell; Cathleen Lawson; Mindy Christianson; Lydia H Pecker
Journal:  J Assist Reprod Genet       Date:  2020-05-29       Impact factor: 3.412

4.  In vitro fertilisation with preimplantation genetic testing: the need for expanded insurance coverage.

Authors:  Madison K Kilbride
Journal:  J Med Ethics       Date:  2020-08-19       Impact factor: 2.903

5.  Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.

Authors:  Chi-Chun Ho; Shuk-Mui Tai; Edmond Chi-Nam Lee; Timothy Shin-Heng Mak; Timothy Kam-Tim Liu; Victor Wai-Lun Tang; Wing-Tat Poon
Journal:  Int J Mol Sci       Date:  2017-04-05       Impact factor: 5.923

6.  Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.

Authors:  Zhiqing Wang; Shu Liu; Siping Liu; Yadong Wang; Junsheng Chen; Baoping Wu
Journal:  BMC Med Genet       Date:  2018-05-02       Impact factor: 2.103

7.  Specialist physicians' referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow?

Authors:  Sarah Capelouto; Melanie Evans; Jennifer Shannon; Katelyn Jetelina; Orhan Bukulmez; Bruce Carr
Journal:  F S Rep       Date:  2021-03-11
  7 in total

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