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Targeted carrier screening for four recessive disorders: high detection rate within a founder population.

Abstract：

:In a genetically isolated community in the Netherlands four severe recessive genetic disorders occur at relatively high frequency (pontocerebellar hypoplasia type 2 (PCH2), fetal akinesia deformation sequence (FADS), rhizomelic chondrodysplasia punctata type 1 (RCDP1), and osteogenesis imperfecta (OI) type IIB/III. Over the past decades multiple patients with these disorders have been identified. This warranted the start of a preconception outpatient clinic, in 2012, aimed at couples planning a pregnancy. The aim of our study was to evaluate the offer of targeted genetic carrier screening as a method to identify high-risk couples for having affected offspring in this high-risk subpopulation. In one year, 203 individuals (92 couples and 19 individuals) were counseled. In total, 65 of 196 (33.2%) tested individuals were carriers of at least one disease, five (7.7%) of them being carriers of two diseases. Carrier frequencies of PCH2, FADS, RCDP1, and OI were 14.3%, 11.2%, 6.1%, and 4.1% respectively. In individuals with a positive family history for one of the diseases, the carrier frequency was 57.8%; for those with a negative family history this was 25.8%. Four PCH2 carrier-couples were identified. Thus, targeted (preconception) carrier screening in this genetically isolated population in which a high prevalence of specific disorders occurs detects a high number of carriers, and is likely to be more effective compared to cascade genetic testing. Our findings and set-up can be seen as a model for carrier screening in other high-risk subpopulations and contributes to the discussion about the way carrier screening can be offered and organized in the general population.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Mathijssen IB,Henneman L,van Eeten-Nijman JM,Lakeman P,Ottenheim CP,Redeker EJ,Ottenhof W,Meijers-Heijboer H,van Maarle MC

doi

10.1016/j.ejmg.2015.01.004

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

123-8

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(15)00008-7

journal_volume

58

pub_type

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