Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

M. C. van Rij; P. A. M. de Koning Gans; C. M. Aalfs; M. Elting; P. F. Ippel; J. A. Maat-Kievit; S. Vermeer; C. C. Verschuuren-Bemelmans; M. J. van Belzen; R. D. M. Belfroid; M. Losekoot; J. P. M. Geraedts; R. A. C. Roos; A. Tibben; C. E. M. de Die-Smulders; E. K. Bijlsma

doi:10.1111/cge.12090

Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

M. C. van Rij, P. A. M. de Koning Gans, C. M. Aalfs, M. Elting, P. F. Ippel, J. A. Maat-Kievit, S. Vermeer, C. C. Verschuuren-Bemelmans, M. J. van Belzen, R. D. M. Belfroid, M. Losekoot, J. P. M. Geraedts, R. A. C. Roos, A. Tibben, C. E. M. de Die-Smulders, E. K. Bijlsma^*

^*Corresponding author for this work

GROW - Reproductive and Perinatal Medicine

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Web of Science)

Abstract

This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (14%) exclusion tests. In 9% of direct tests the risk for the foetus was 25%. Four at-risk parents (4%) carried intermediate alleles. Ninety-one foetuses had CAG expansions 36% or 50% risk haplotypes: 75 (82%) were terminated for HD, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow-up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of PND was 22% of CAG expansion carriers (36 repeats) at reproductive age. PND was used by two new subgroups: carriers of intermediate alleles and 50% at-risk persons opting for a direct prenatal test of the foetus. A significant number of HD expansion or 50% risk pregnancies were continued. Speculations were made on causative factors contributing to these continuations. Further research on these couples' motives is needed.

Original language	English
Pages (from-to)	78-86
Journal	Clinical Genetics
Volume	85
Issue number	1
DOIs	https://doi.org/10.1111/cge.12090
Publication status	Published - Jan 2014

Keywords

continued pregnancy
exclusion test
exclusion-definitive test
grey test result
Huntington's disease
intermediate allele
non-disclosure
PD
prenatal diagnosis
reproductive decision making
uptake

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10.1111/cge.12090

Cite this

van Rij, M. C., Gans, P. A. M. D. K., Aalfs, C. M., Elting, M., Ippel, P. F., Maat-Kievit, J. A., Vermeer, S., Verschuuren-Bemelmans, C. C., van Belzen, M. J., Belfroid, R. D. M., Losekoot, M., Geraedts, J. P. M., Roos, R. A. C., Tibben, A., de Die-Smulders, C. E. M., & Bijlsma, E. K. (2014). Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008. Clinical Genetics, 85(1), 78-86. https://doi.org/10.1111/cge.12090

@article{e6361f207a114eeabbc04abe6c8c99a1,

title = "Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008",

abstract = "This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (14%) exclusion tests. In 9% of direct tests the risk for the foetus was 25%. Four at-risk parents (4%) carried intermediate alleles. Ninety-one foetuses had CAG expansions 36% or 50% risk haplotypes: 75 (82%) were terminated for HD, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow-up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of PND was 22% of CAG expansion carriers (36 repeats) at reproductive age. PND was used by two new subgroups: carriers of intermediate alleles and 50% at-risk persons opting for a direct prenatal test of the foetus. A significant number of HD expansion or 50% risk pregnancies were continued. Speculations were made on causative factors contributing to these continuations. Further research on these couples' motives is needed.",

keywords = "continued pregnancy, exclusion test, exclusion-definitive test, grey test result, Huntington's disease, intermediate allele, non-disclosure, PD, prenatal diagnosis, reproductive decision making, uptake",

author = "{van Rij}, {M. C.} and Gans, {P. A. M. de Koning} and Aalfs, {C. M.} and M. Elting and Ippel, {P. F.} and Maat-Kievit, {J. A.} and S. Vermeer and Verschuuren-Bemelmans, {C. C.} and {van Belzen}, {M. J.} and Belfroid, {R. D. M.} and M. Losekoot and Geraedts, {J. P. M.} and Roos, {R. A. C.} and A. Tibben and {de Die-Smulders}, {C. E. M.} and Bijlsma, {E. K.}",

year = "2014",

month = jan,

doi = "10.1111/cge.12090",

language = "English",

volume = "85",

pages = "78--86",

journal = "Clinical Genetics",

issn = "0009-9163",

publisher = "Wiley",

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van Rij, MC, Gans, PAMDK, Aalfs, CM, Elting, M, Ippel, PF, Maat-Kievit, JA, Vermeer, S, Verschuuren-Bemelmans, CC, van Belzen, MJ, Belfroid, RDM, Losekoot, M, Geraedts, JPM, Roos, RAC, Tibben, A, de Die-Smulders, CEM & Bijlsma, EK 2014, 'Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008', Clinical Genetics, vol. 85, no. 1, pp. 78-86. https://doi.org/10.1111/cge.12090

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T1 - Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

AU - van Rij, M. C.

AU - Gans, P. A. M. de Koning

AU - Aalfs, C. M.

AU - Elting, M.

AU - Ippel, P. F.

AU - Maat-Kievit, J. A.

AU - Vermeer, S.

AU - Verschuuren-Bemelmans, C. C.

AU - van Belzen, M. J.

AU - Belfroid, R. D. M.

AU - Losekoot, M.

AU - Geraedts, J. P. M.

AU - Roos, R. A. C.

AU - Tibben, A.

AU - de Die-Smulders, C. E. M.

AU - Bijlsma, E. K.

PY - 2014/1

Y1 - 2014/1

N2 - This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (14%) exclusion tests. In 9% of direct tests the risk for the foetus was 25%. Four at-risk parents (4%) carried intermediate alleles. Ninety-one foetuses had CAG expansions 36% or 50% risk haplotypes: 75 (82%) were terminated for HD, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow-up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of PND was 22% of CAG expansion carriers (36 repeats) at reproductive age. PND was used by two new subgroups: carriers of intermediate alleles and 50% at-risk persons opting for a direct prenatal test of the foetus. A significant number of HD expansion or 50% risk pregnancies were continued. Speculations were made on causative factors contributing to these continuations. Further research on these couples' motives is needed.

AB - This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A total of 126 couples underwent prenatal diagnosis (PND) on 216 foetuses: 185 (86%) direct tests and 31 (14%) exclusion tests. In 9% of direct tests the risk for the foetus was 25%. Four at-risk parents (4%) carried intermediate alleles. Ninety-one foetuses had CAG expansions 36% or 50% risk haplotypes: 75 (82%) were terminated for HD, 12 (13%) were carried to term; four pregnancies were miscarried, terminated for other reasons or lost to follow-up. Unaffected pregnancies (122 foetuses) resulted in the birth of 112 children. The estimated uptake of PND was 22% of CAG expansion carriers (36 repeats) at reproductive age. PND was used by two new subgroups: carriers of intermediate alleles and 50% at-risk persons opting for a direct prenatal test of the foetus. A significant number of HD expansion or 50% risk pregnancies were continued. Speculations were made on causative factors contributing to these continuations. Further research on these couples' motives is needed.

KW - continued pregnancy

KW - exclusion test

KW - exclusion-definitive test

KW - grey test result

KW - Huntington's disease

KW - intermediate allele

KW - non-disclosure

KW - PD

KW - prenatal diagnosis

KW - reproductive decision making

KW - uptake

U2 - 10.1111/cge.12090

DO - 10.1111/cge.12090

M3 - Article

C2 - 23350614

SN - 0009-9163

VL - 85

SP - 78

EP - 86

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -