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Aurora magazine

Angelman's Syndrome can be ruled out with fetal DNA testing

It is possible to measure the risk that the fetus develops Angelman's syndrome with non-invasive prenatal screening. According to a Texas Children's Hospital study, it would suffice for a fetal DNA test to rule out the appearance of the disorder.

Fetal DNA tests have been available since 2011. They are used to detect chromosome abnormalities at the base of Down syndrome, Edward syndrome, and Patau syndrome. Because they analyze the fetal DNA in the mother's blood, they are completely safe for both the mother and the baby. Thanks to the study, it seems that the number of diseases that can be identified in this way has just grown.

Doctors use the fetal DNA test to verify the presence of too many chromosomes. In addition, the test is also useful for diagnosing disorders caused by the absence of chromosome parts. The Texan researchers have decided to test whether the test could predict other disorders.

They analyzed 712 samples already tested with fetal DNA testing. All samples had been classified as high risk of chromosomal anomalies. The purpose was to check whether the presence of false positives and what the disorders were.

Fetal DNA tests failed to detect the presence of Angelman's syndrome with sufficient precision. The same applies to other disorders such as Crypto-Chiral syndrome and Prader-Willi syndrome. However, they proved to be very effective in excluding Angelman's presence.

Discovery is especially relevant for those who have had examples of Angelman's syndrome in the family. In these cases, fetal DNA testing is able to exclude the presence of the syndrome with close to 100% accuracy.