Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

被引:29
作者
de Jong, Antina [1 ,2 ,3 ]
Dondorp, Wybo J. [1 ,2 ,4 ]
Macville, Merryn V. E. [5 ]
de Die-Smulders, Christine E. M. [2 ,6 ]
van Lith, Jan M. M. [7 ]
de Wert, Guido M. W. R. [1 ,2 ,3 ,4 ]
机构
[1] Maastricht Univ, Dept Hlth Eth & Soc, Fac Hlth Med & Life Sci, NL-6200 MD Maastricht, Netherlands
[2] Maastricht Univ, GROW, Sch Oncol & Dev Biol, NL-6200 MD Maastricht, Netherlands
[3] CSG Ctr Soc & Life Sci, NL-6500 GL Nijmegen, Netherlands
[4] Maastricht Univ, Sch Publ Hlth & Primary Care, CAPHRI, NL-6200 MD Maastricht, Netherlands
[5] Maastricht Univ Clin Genet, Dept Clin Genet, Clin Lab, Cytogenet Unit, NL-6202 AZ Maastricht, Netherlands
[6] Maastricht Univ, Med Ctr, AzM, Dept Clin Genet, NL-6202 AZ Maastricht, Netherlands
[7] Leiden Univ, Dept Obstet & Fetal Med, Med Ctr, NL-2300 RC Leiden, Netherlands
关键词
COMPARATIVE GENOMIC HYBRIDIZATION; CHROMOSOMAL MICROARRAY; ARRAY CGH; CLINICAL UTILITY; WHOLE-GENOME; 1ST-LINE TEST; SNP ARRAY; FETUSES; ABNORMALITIES; MALFORMATIONS;
D O I
10.1007/s00439-013-1365-5
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Genomic microarray analysis is increasingly being applied as a prenatal diagnostic tool. Microarrays enable searching the genome at a higher resolution and with higher sensitivity than conventional karyotyping for identifying clinically significant chromosomal abnormalities. As yet, no clear guidelines exist on whether microarrays should be applied prenatally for all indications or only in selected cases such as ultrasound abnormalities, whether a targeted or genome-wide array should be used, and what these should include exactly. In this paper, we present some ethical considerations on the prenatal use of microarrays. There is a strong consensus, at least in Western countries, that the aim of prenatal screening for foetal abnormalities should be understood as facilitating autonomous reproductive choice for prospective parents. The tests offered should be valid and useful to reach that purpose. Against this background, we address several ethical issues raised by the prenatal application of microarrays. First, we argue that the general distinction between a targeted and a genome-wide microarray needs to be scrutinised. Then we examine whether microarrays are 'suitable tests' to serve either a screening or a diagnostic purpose. Given the wide range of findings possibly generated by microarrays, the question arises whether microarrays actually promote or interfere with autonomous reproductive decision-making. Moreover, if variants of unknown clinical significance are identified, this adds to the burden and complexity of reproductive decision-making. We suggest a qualified use of microarrays in the prenatal context.
引用
收藏
页码:163 / 172
页数:10
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