Document Detail


The uptake and outcome of prenatal and preimplantation genetic diagnosis for Huntington's disease in the Netherlands (1998-2008).
MedLine Citation:
PMID:  23350580     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) for Huntington's disease (HD). In the Netherlands exclusion PND is available for persons at 50% risk; exclusion PGD is not allowed. All 162 couples who underwent PND or PGD for HD between 1998 and 2008 and referrals for exclusion PGD to Belgium were included. Couples' reproductive information was collected until December 2010. 132 couples (81.5%) underwent PND in 262 pregnancies, 54 (33.3%) started PGD, 25 used both. 16% of PND-couples used exclusion-PND, 6% used exclusion-PGD. Outcome: 76.5% of PND couples delivered ≥1 unaffected child(ren) after PND, and 44.4% of PGD couples delivered ≥1 PGD-child(ren) (mean 2.5 cycles/couple). Couples opting for PGD secondarily (after a previous pregnancy), had more frequently terminated a pregnancy for HD (87.0%), compared with couples secondarily opting for PND (55.2%) (p=0.015). At-risk or HD expansion carrier males were underrepresented in the group of couples primarily opting for PGD (25%), and overrepresented in the secondary PGD group (64%). We conclude that couples reconsider their choices in every subsequent pregnancy based on their previous experience, personal beliefs and the gender of the at-risk partner.
Authors:
Maartje C van Rij; Pia A M de Koning Gans; Martine J van Belzen; Raymund A C Roos; Joep P M Geraedts; Marjan De Rademaeker; Emilia K Bijlsma; Christine E M de Die-Smulders
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-25
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons A/S.
Affiliation:
Dept. Clinical Genetics, Maastricht University Medical Centre (MUMC); Dept. Neurology, Leiden University Medical Centre (LUMC).
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