Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

TY - JOUR

T1 - Non-invasive prenatal testing for aneuploidy and beyond

T2 - challenges of responsible innovation in prenatal screening

AU - Dondorp, Wybo

AU - de Wert, Guido

AU - Bombard, Yvonne

AU - Bianchi, Diana W

AU - Bergmann, Carsten

AU - Borry, Pascal

AU - Chitty, Lyn S

AU - Fellmann, Florence

AU - Forzano, Francesca

AU - Hall, Alison

AU - Henneman, Lidewij

AU - Howard, Heidi C

AU - Lucassen, Anneke

AU - Ormond, Kelly

AU - Peterlin, Borut

AU - Radojkovic, Dragica

AU - Rogowski, Wolf

AU - Soller, Maria

AU - Tibben, Aad

AU - Tranebjærg, Lisbeth

AU - van El, Carla G

AU - Cornel, Martina C

AU - European Society of Human Genetics

PY - 2015/10/1

Y1 - 2015/10/1

N2 - This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

AB - This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

KW - Aneuploidy

KW - Chromosome Disorders

KW - Down Syndrome

KW - Female

KW - Genetic Counseling

KW - Humans

KW - Pregnancy

KW - Prenatal Diagnosis

KW - Trisomy

KW - Ultrasonography, Prenatal

U2 - 10.1038/ejhg.2015.57

DO - 10.1038/ejhg.2015.57

M3 - Journal article

C2 - 25782669

SN - 1018-4813

VL - 23

SP - 1438

EP - 1450

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -