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Microarray analysis improves prenatal diagnosis
Date:11/17/2008

suspected because the mother "carried" the change in her DNA, or because another prior test, such as a karyotype, had detected it.

Three cases were classified as uncertain. Two of these involved copy number variations, not seen before and not inherited from the parents, in fetuses with birth defects identified on the prenatal ultrasound. In one, the array findings were interpreted as likely unrelated to the birth defects and in the other they were thought to cause the defects. In the third case, there was a relatively large deletion in an area of chromosome 3, but it was also present in the mother, who had no reported medical problems.

In two cases the array comparative genome hybridization identified disorders that would have been missed otherwise and in seven cases the results added new information about risk of disease valuable in genetic counseling.

"My conclusion is, that providing there is good genetic counseling that accompanies it, the test can be offered to prospective parents who want prenatal diagnosis. There are many parents interested in having this additional diagnostic information," said Van den Veyver. "If we use an array that is targeted and we have parental samples to confirm the meaning of detected changes, in the majority of cases, we will be able to counsel the patients about the significance of the findings."


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Contact: Glenna Picton
picton@bcm.edu
713-798-4710
Baylor College of Medicine
Source:Eurekalert

Page: 1 2 3

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