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Improved prenatal test may better detect genetic diseases

10 December 2012
Appeared in BioNews 685

More sensitive prenatal testing of fetal DNA could improve the detection of genetic diseases, studies find. Research testing the use of chromosomal microarray technology to detect genetic defects in the fetus show improved precision compared to current karyotyping techniques.

'Based on our findings, we believe that microarray will and should replace karyotyping as the standard for evaluating chromosomal abnormalities in fetuses', said Professor Ronald Wapner, lead author of the study at Columbia University Medical Center, USA.

The researchers analysed fetal DNA isolated from 4,400 mothers who underwent amniocentesis or chorionic villus sampling. The women selected were either older mothers or those whose fetuses showed signs of developmental abnormalities from initial ultrasound screening. The fetal DNA samples were split in two, with one half being sent for chromosomal microarray testing and the other for standard karyotyping.

Professor Wapner told Bloomberg Businessweek: 'The biggest advantage of microarray is it can give us a lot more information. We are expanding the information a person can get out of prenatal testing, identifying additional and more serious problems'.

Karyotyping looks at the overall shape of the chromosomes, looking for obvious physical defects. However chromosomal microarray tests look at the DNA sequence to find mutations that could be harmful.

Researchers found in six percent of cases where suspect structural changes were detected via ultrasound but karyoptying was normal, the microarray tests were able to pick up genetic defects that might explain these changes. 'This allows us to better counsel a patient', remarked Professor Wapner to Bloomberg Businessweek.

In a separate study, led by researchers at the National Institute of Child Health and Human Development, Maryland, USA, this technology was used to investigate potential genetic causes for stillbirth. Karyotyping identified the cause for stillbirth in 71 percent of cases, while chromosomal microarray technology achieved this in 87 percent of cases.

Although microarray technology can produce more genetic information than karyotyping, it costs up three times more to administer. The significance of the genetic data is also not always understood.

'These reports highlight the power and complexity, and some of the pitfalls, of using new genomic technology in clinical practice', wrote Dr Lorraine Dugoff, from the Hospital of the University of Pennsylvania, in an editorial published alongside the studies.

Currently chromosomal microarray testing requires an invasive procedure, with a small risk of a miscarriage, to isolate the fetal DNA, making it unlikely to be offered as standard care for pregnant women. However techniques are now being developed to isolate fetal DNA from maternal blood samples (see BioNews 683).

'We hope that in the future - when microarray can be done non-invasively - every woman who wishes will be offered microarray, so that she can have as complete information as possible about her pregnancy', said Professor Wapner.

The studies were published in the New England Journal of Medicine.

Advanced Genetic Tests Spot More Defects Before Birth
Bloomberg Businessweek |  6 December 2012
Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis
New England Journal of Medicine |  6 December 2012
Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth
New England Journal of Medicine |  6 December 2012
New Prenatal Gene Test Proposed as Standard of Care
Columbia University Medical Center (press release) |  5 December 2012
Study could spur wider use of early prenatal testing
CBS News |  6 December 2012
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