Clinical utility of chromosomal microarray analysis in prenatal diagnosis: report of first 6 months in clinical practice

Klugman, Susan; Suskin, Barrie; Spencer, Brianna L.; Dar, P.; Bajaj, Komal; Powers, Judith; Reichling, Julie; Wasserman, David; Dolan, Siobhan M.; Merkatz, Irwin R.

doi:10.3109/14767058.2013.858243

Cited by 22 publications

(31 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As CMA has been available as a diagnostic test prenatally only recently, data regarding acceptance of CMA is limited. Our findings are consistent with that of Klugman and colleagues, who also found that women were most likely to accept CMA if invasive testing was performed for a fetal structural abnormality on ultrasound . Our rate of microarray uptake was less than that of their group (41% compared to 54%) which may be because of their restriction of offering CMA to women with fetal structural abnormalities, advanced maternal age and abnormal aneuploidy screening, whereas our center offered CMA it to all women undergoing invasive testing.…”

Section: Discussionsupporting

confidence: 88%

“…The broad application of CMA may have several potential benefits as compared to conventional karyotype, including its higher resolution to detect genetic changes, its procedural standardization and its ability to perform on uncultured cells . As with the adoption of any new technology – or in this case, adoption of a known technology in a new clinical setting – the use of CMA in the realm of prenatal diagnosis has its challenges …”

Section: Discussionmentioning

confidence: 99%

“…One of the limitations of CMA is the potential to detect a variant of unknown clinical significance (VUS), a finding that is estimated to occur in approximately 3.4% of cases with a normal karyotype . This creates a dilemma for genetic counselors, providers and patients alike, and may be a cause of anxiety and hesitation toward CMA for some women . As our understanding of VUS advances, interpretation of these results may improve.…”

Section: Introductionmentioning

confidence: 99%

“…2 This creates a dilemma for genetic counselors, providers and patients alike, and may be a cause of anxiety and hesitation toward CMA for some women. [4][5][6] As our understanding of VUS advances, interpretation of these results may improve.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

et al. 2016

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Rather, these tests reveal a variety of genetic changes which vary widely in known clinical signifi cance. It is diffi cult to draw lines for the analysis and disclosure of fi ndings from these tests, and yet clearly tempting, to avoid information overload, confusion, and anxiety (Bernhardt et al 2014 ;Donley et al 2012 ;Klugman et al 2013 ).…”

Section: David Wassermanmentioning

confidence: 99%

Prenatal and Preimplantation Diagnosis

Galst¹,

Verp²

2015

View full text Add to dashboard Cite

Personalized Genomic Medicine and Prenatal Genetic Testing

Dolan

2014

JAMA

Self Cite

View full text Add to dashboard Cite

Just 30 years ago, Merkatz et al 1 reported an association between low maternal serum alpha-fetoprotein and trisomy 18, proving in principal that information about a fetus could be learned prenatally. Today, genetic testing directly on fetal cells can provide a complete karyotype, and use of chromosomal microarray analysis (CMA) can generate information regarding more than 80 syndromes caused by microdeletions and microduplications. 2 Noninvasive prenatal testing on cell-free fetal DNA in maternal serum is also being integrated into prenatal care, providing, as early as the first trimester, highly sensitive screening for the common trisomies, sex chromosome aneuploidies, and syndromes such as velocardiofacial syndrome (22q11 deletion). 3 Progress in prenatal genetic testing and the integration of complex genetic technologies into care has been rapid, challenging patients and clinicians attempting to keep abreast of the latest developments in genomic medicine. A variety of fundamental questions remain unanswered regarding newly available prenatal genetic tests. How are these advances being translated into clinical care? How will this example of personalized genomic medicine be integrated into routine prenatal care for the 4 million pregnant women who give birth in the United States each year? With so many options available, how can clinicians determine the optimal testing strategy for each woman to truly personalize the experience? What educational tools can assist patients as well as clinicians trying to navigate the complexities of these new tests?Although the technology for prenatal testing has developed rapidly, proven approaches for understanding each woman's personal interest in the multitude of available prenatal tests, considering her values and preferences, are not well established. Numerous complex factors interact in decision making during prenatal care, challenging how each woman weighs the risks and benefits of screening and diagnostic testing prenatally. For example, how important is timing? What is the agerelated risk of aneuploidy? How troubling is the risk of miscarriage? Is there a family history that is relevant? What is the range of acceptable pregnancy outcomes? Identifying and addressing such questions can require extensive time and expertise beyond that available to many clinicians who provide prenatal care.In this issue of JAMA, Kuppermann and colleagues 4 present important results from a clinical trial evaluating the effect of an intervention designed to facilitate informed decision making by pregnant women (with widely varying levels of health literacy and numeracy) confronted by the myriad genetic screening and testing options. The primary outcome measured was use of invasive prenatal genetic testing obtained via medical record review. The intervention consisted of an interactive computer-based decision-support guide that explained the testing options and facilitated values clarification regarding testing. Additionally, testing was free to women in the intervention group. Secondary outc...

show abstract

Clinical utility of chromosomal microarray analysis in prenatal diagnosis: report of first 6 months in clinical practice

Cited by 22 publications

References 19 publications

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

Chromosomal microarray use among women undergoing invasive prenatal diagnosis

Prenatal and Preimplantation Diagnosis

Personalized Genomic Medicine and Prenatal Genetic Testing

Contact Info

Product

Resources

About