Microarray genetic screening: a prenatal roadblock for life?

Shuster, Evelyne

doi:10.1016/s0140-6736(07)60239-6

Cited by 62 publications

(47 citation statements)

References 13 publications

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“…37,43 However, it is well described that the differences in the proportion of VOUS detected is mainly related to the array platform used and its resolution. In our study, we have carefully selected a genome wide BAC-array platform specifically developed for prenatal applications, with a balance of increased resolution (B100 kb) in locations of known constitutional disorders as well as less coverage in polymorphic CNVs and in backbone (up to 1 Mb resolution), compared with high resolution oligonucleotide or single-nucleotide polymorphism (SNP) microarray platforms.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities

Fiorentino¹,

Napoletano²,

Caiazzo³

et al. 2012

Eur J Hum Genet

105

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In this study, we aimed to explore the utility of chromosomal microarray analysis (CMA) in groups of pregnancies with a priori low risk for detection of submicroscopic chromosome abnormalities, usually not considered an indication for testing, in order to assess whether CMA improves the detection rate of prenatal chromosomal aberrations. A total of 3000 prenatal samples were processed in parallel using both whole-genome CMA and conventional karyotyping. The indications for prenatal testing included: advanced maternal age, maternal serum screening test abnormality, abnormal ultrasound findings, known abnormal fetal karyotype, parental anxiety, family history of a genetic condition and cell culture failure. The use of CMA resulted in an increased detection rate regardless of the indication for analysis. This was evident in high risk groups (abnormal ultrasound findings and abnormal fetal karyotype), in which the percentage of detection was 5.8% (7/120), and also in low risk groups, such as advanced maternal age (6/1118, 0.5%), and parental anxiety (11/1674, 0.7%). A total of 24 (0.8%) fetal conditions would have remained undiagnosed if only a standard karyotype had been performed. Importantly, 17 (0.6%) of such findings would have otherwise been overlooked if CMA was offered only to high risk pregnancies.The results of this study suggest that more widespread CMA testing of fetuses would result in a higher detection of clinically relevant chromosome abnormalities, even in low risk pregnancies. Our findings provide substantial evidence for the introduction of CMA as a first-line diagnostic test for all pregnant women undergoing invasive prenatal testing, regardless of risk factors.

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Section: Discussionmentioning

confidence: 99%

Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities

Fiorentino¹,

Napoletano²,

Caiazzo³

et al. 2012

Eur J Hum Genet

105

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“…75,76 Practically no research has been done to determine whether pregnant women would want such a genome-wide test. In an American study, pregnant women who (for various reasons) qualified for an amniocentesis or chorion villus sampling were given the option of having an array CGH test performed in addition to the standard karyotyping for no additional cost.…”

Section: -67mentioning

confidence: 99%

“…The paradox is that 'the quest for a health baby could cause parents to have no baby at all'. 75 There is certainly cause for concern about the degree to which increasingly broad prenatal tests, due to the sometimes difficult to interpret meaning of certain findings, may lead to unnecessary abortion decisions. Regardless, future parents will often still decide to have the child, even if they have been informed about (potential) weaknesses in its genome.…”

Section: Practical Courses Of Action: the More Choice The Better?mentioning

confidence: 99%

The ‘thousand-dollar genome’: an ethical exploration

Dondorp

Wert

2013

Eur J Hum Genet

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“…91 Women who are deciding whether to continue with a pregnancy or terminate it (or whether to place embryos in the womb) and are receiving counselling as part of the decision-mak-ing process will be faced with information about a wide range of conditions and health risks that they might find hard to digest, and with information whose clinical significance is unclear. 92 It is already anticipated that the karyotyping carried out in the context of chorionic villus sampling or amniotic fluid tests (which detect only chromosomal abnormalities that show up under the microscope) could be replaced by chromosomal testing using microarray technology (the 2007 Trend Analysis reports that large-scale implementation is not unlikely within the next five years, provided that the advantages and disadvantages are clarified). 59 This would not only lead to faster and cheaper prenatal chromosomal tests, but would also allow a larger number of subtle chromosomal abnormalities (deletions and insertions) and associated genetic syndromes to be detected.…”

Section: Screening For Genetic Sensitivity To Multifactorial Conditionsmentioning

confidence: 99%

“…94,95 A recent comment warned that this development threatened to undermine the rationale and purpose of prenatal screening. 92,96 Even if producing a complete genome profile becomes affordable in the long run, the actual costs, particularly that of the counselling that would be required, will be high and may continue to prove a significant barrier. Obtaining information is a one-off process, but the subsequent pattern of events is not.…”

Section: Screening For Genetic Sensitivity To Multifactorial Conditionsmentioning

confidence: 99%