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Improved Pregnancy Test Exposes Birth Defect Much Earlier

An improved pre-natal test has been developed in Europe, which can detect fetal abnormalities such as down syndrome in high-risk pregnancies from the ninth week.

PrenaTest® is a non-invasive molecular genetic blood test that can detect fetal trisomies 13 (patau syndrome), 18 (edwards syndrome) and 21 (down syndrome) in the blood. A trisomy refers to the presence of three chromosomes instead of two, which can lead to certain genetic conditions.

The developers say that performing this test at an earlier stage of pregnancy is advisable, particularly if mothers are at high risk of their babies developing one of these trisomies due to a genetic disposition.

The test has been improved using an advanced method called QuantYfeX™. The developers of the test, Lifecodexx, use this technology in order to measure the amount of cell-free fetal DNA (cffDNA) present in the mother's blood at the start of the laboratory process.

A physician takes 20ml of blood from the mother, which will then be sent to the lab. If the amount of cell-free DNA is at a minimum of 4% in the early weeks of pregnancy, Lifecodexx are able to analyze the blood sample.

The new technology allows Lifecodexx to notify the physician at the beginning of the lab process if the amount of cffDNA detected is too low, meaning the physician can promptly take a new blood sample.

Of the 808 clinical samples carried out so far using this test, 99.8% of the samples were diagnosed correctly.

Dr Wera Hofmann, Medical Director at Lifecodexx says:

"According to the recommendation of experts, non-invasive molecular genetic tests such as this are especially advisable in connection with a first trimester ultrasound, which is performed between week 11 and 13 of pregnancy."

According to the World Health Organization (WHO), each year 3,000 to 5,000 children are born with down syndrome alone, the most common of trisomy, occurring in one in every 1,000 births.

Last year, the American College of Obstetricians and Gynecologists (ACOG) alongside the Society for Maternal-Fetal Medicine (SMFM), issued a report supporting the use of non-invasive prenatal testing that uses cffDNA as a screen tool for the presence of trisomies within high-risk pregnancies.

There are many tests available that provide this option, but PrenaTest® is the first that can test for trisomies from week 9 of pregnancy.

ACOG also recommend that all pregnant women, regardless of age, should be offered this option as a part of their prenatal assessment, but the test should not be offered to low-risk women or women with multiple pregnancies because the tests have not been sufficiently evaluated within these groups.

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