The introduction of arrays in prenatal diagnosis: A special challenge

Vetro, Annalisa; Bouman, Katelijne; Hastings, Ros; McMullan, Dominic; Vermeesch, Joris Robert; Miller, Konstantin; Sikkema‐Raddatz, Birgit; Ledbetter, David H.; Zuffardi, Orsetta; Ravenswaaij-Arts, Conny M. A. van

doi:10.1002/humu.22050

Cited by 74 publications

(126 citation statements)

References 52 publications

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“…Unexpected diagnoses (UD) such as the detection of a late-onset disease or cancer risk factors are generally thought to be challenging for prenatal counseling. 14 However, we hypothesized that UDs could be an additional advantage of array testing before birth, because the fetal phenotype is limited to ultrasound findings. To study this hypothesis and evaluate the diagnostic value of genomic array we reviewed all cases of fetal ultrasound anomalies tested with single-nucleotide polymorphism (SNP) array in our laboratory and we reclassified the pathogenic array findings as we suggested before.…”

Section: Introductionmentioning

confidence: 99%

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

et al. 2015

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To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated the prevalence and genetic nature of pathogenic findings. We reclassified all pathogenic findings into three categories: causative findings; unexpected diagnoses (UD); and susceptibility loci (SL) for neurodevelopmental disorders. After exclusion of trisomy 13, 18, 21, sex-chromosomal aneuploidy and triploidies, in 76/1033 (7.4%) fetuses a pathogenic chromosome abnormality was detected by genomic SNP array: in 19/1033 cases (1.8%) a microscopically detectable abnormality was found and in 57/1033 (5.5%) fetuses a pathogenic submicroscopic chromosome abnormality was detected. 58% (n = 44) of all these pathogenic chromosome abnormalities involved a causative finding, 35% (n = 27) a SL for neurodevelopmental disorder, and 6% (n = 5) a UD of an early-onset untreatable disease. In 0.3% of parental samples an incidental pathogenic finding was encountered. Our results confirm that a genomic array should be the preferred first-tier technique in fetuses with ultrasound anomalies. All UDs involved early-onset diseases, which is beneficial for the patients to know. It also seems that UDs occur at a comparable frequency among microscopic and submicroscopic pathogenic findings. SL were more often detected than in pregnancies without ultrasound anomalies.

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Section: Introductionmentioning

confidence: 99%

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

et al. 2015

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“…38 For example, the use of microarray testing in place of conventional karyotyping for fetal chromosomal analysis is increasing the potential for unexpected findings. 39 Although the empirical data available to inform the management of such findings are limited, albeit growing rapidly, it is claimed that the respect for patients' autonomy and the avoidance of paternalism necessitate disclosure. 36 We therefore suggest that the potential nature of unexpected findings, as well as whether and how they will be disclosed to the parents should be discussed before the sample is taken.…”

Section: Psychosocial Issuesmentioning

confidence: 99%

Offering prenatal diagnostic tests: European guidelines for clinical practice

et al. 2013

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For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidelines for health professionals from varied disciplines who offer prenatal diagnosis (PND) in a range of possible settings including departments of maternity, obstetrics and clinical genetics. We used an Expert Group technique to develop a set of guidelines for provision of prenatal diagnostic services. Thirteen European health professionals, all experts in PND, participated in a workshop to develop the guidelines, which were then subjected to a wide consultation process. The objective of PND was defined as providing prenatal diagnostic testing services (for genetic conditions) that enable families to make informed choices consistent with their individual needs and values and which support them in dealing with the outcome of such testing. General principles, logistical considerations, clinical care and counselling topics are all described and are equally applicable to invasive and noninvasive testing. These guidelines provide a framework for ethical clinical care; however, they are flexible enough to enable practitioners to adapt them to their particular setting. Ideally, an individualised approach to each family is required to ensure autonomous choice and informed consent regarding prenatal diagnostic testing within the local ethical and legal framework.

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“…Here, the primary aim of such testing is to better inform pregnant women and their partners about fetal abnormalities that they may regard as relevant in deciding whether to let the pregnancy continue or not. Hence the reference in the article by Vetro et al [2012] to the "limited timeframe" for decision making in the prenatal context due to the laws on abortion in different countries. With this aim, we enter a different moral landscape compared to that governing postnatal testing.…”

Section: Consent For Genome-wide Array-based Prenatal Testingmentioning

confidence: 99%

“…This latter expectation is of course crucial; if testing can be deferred until after birth, women should not be persuaded to consent to prenatal testing they do not particularly want to have. Vetro et al [2012] refer to the interests of the future child, but without drawing the conclusion that where his or her interests are clearly at stake, the traditional framework of nondirectiveness does not apply. They say that the parents should be helped "to make their own decision based on the ethical concept of the fetus as a patient."…”

Section: Consent For Genome-wide Array-based Prenatal Testingmentioning

confidence: 99%

“…Postnatally, this mainly concerns the clarification of unexplained intellectual disability and other heterogeneous conditions affecting young children [Vissers et al, 2010]. Prenatally, genome-wide arrays are increasingly being used in pregnancies with ultrasound abnormalities [Vetro et al, 2012], while proposals have also been made for using this technology as an alternative for karyotyping in low-risk pregnancies [Ogilvie et al, 2009]. The introduction of genome-wide arrays in these settings promises to have far-ranging implications for clinical genetics, but also raises challenging questions from an ethical point of view.…”

Section: Introductionmentioning

confidence: 99%

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Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

et al. 2012

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ABSTRACT:The introduction of genome-wide arrays in postnatal and prenatal diagnosis raises challenging ethical issues. Here, we explore questions with regard to the ethics of consent. One important issue is whether informed consent for genome-wide array-based testing is in fact feasible, given the wide range of possible outcomes and related options. The proposed alternative of "generic consent" will have to be studied in practice. From an ethical point of view, the question is whether consent would still be sufficiently "informed" in a generic approach. Another issue that has not yet been given much attention is how far parents, or pregnant women and their partners, should be allowed to determine the range of possible outcomes that will or will not be reported back to them. The scope and limits of parents' and prospective parents' right to know or not to know are far from clear. The complex normative issues on the content and weight of these rights can only be answered by taking full account of the rights and interests of all the parties involved: prospective and actual parents, children, and relatives. This paper is the result of a working group meeting preceding the European Society of Human Genetics 2011 Conference, where these issues were addressed.

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The introduction of arrays in prenatal diagnosis: A special challenge

Cited by 74 publications

References 52 publications

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs

Offering prenatal diagnostic tests: European guidelines for clinical practice

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

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