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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.


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Test of cervical mucus may reveal pregnant women's risk of preterm birth

About 18% of children are premature. One million of them do not survive, while the remaining ones are endangered. To date there is no prenatal screening test that can say with certainty whether a woman will give birth before the time.

MIT scientists have discovered significant differences in cervical mucus of preterm delivery women. Analysis could be a safe way to calculate the risk of premature delivery. This way the doctors could act to delay labor or prepare the care for the baby.

An earlier study revealed that 25-40% of premature births are due to infections. In these cases, the microbes reach the uterus through the cervical canal, overcoming the cervical mucus barrier. In addition, women with risk pregnancies have shown to have a much weaker and elastic mucus layer. All this suggests that analyzing the mucus before delivery could help prevent any problems.

Scientists have analyzed the cervical mucus of two groups of patients who have just become mothers. Women in the first group had low-risk gestures, those of the second high-risk group. The women of the first group had given birth in terms, the others between 24th and 34th week. The doctors were able to distinguish the samples taken from the one rather than the others by studying its permeability.

The mucous barrier of women with high risk pregnancies was more permeable than the average. This facilitates the entry of bacteria and microbes, resulting in dangerous infections for the baby. In addition, the altered mucus seems to be less able to retain immune cells and antibodies that could fight the infection.


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The role of ultrasound in the diagnosis of fetal genetic syndromes

Ultrasounds have an essential role in prenatal diagnosis. They allow you to detect malformations and anomalies, some of which can be treated if taken in time. If accompanied by an expert eye, ultrasounds allow you to detect many of these anomalies from the first trimester.

Ultrasound can identify most of the major structural fetal anomalies. Prenatal diagnosis allows for a safer delivery, providing mother and child with the necessary assistance. Parents have the time to arrange their childbirth in a staffed facility and ad hoc machinery. Where necessary, doctors may also arrange for surgery immediately after delivery or even in the uterus.

The first screening with ultrasound is usually between 11th and 14th week. It is also the time when nuclease translucency is measured and tests for Down's syndrome are performed. On this occasion it is good practice to subject the fetus to an anatomical control by ultrasound. These reveal a possible multiple pregnancy and evaluate the physical condition of the fetus.

The second screening with ultrasound is the most important for detecting structural anomalies. It takes place in the second quarter, usually between the 18th and the 20th week. If the first analysis is used to identify the most obvious anomalies, the second one confirms the presence and identification of minor ones.

If the nuclide translucency was found to be abnormal, it is likely that the second screening will reveal a number of structural anomalies. In such situations, however, doctors recommend ultrasound before the 18th week.


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3 genetics tests to improve prenatal screening

With the advancement of new DNA analysis technologies, prenatal screening tests are also refining. Today, just a drop of maternal blood to check if the fetus suffers from Down's syndrome or other genetic abnormalities. Instead, other tests should be done before conceiving and identifying possible mutations that are dangerous to the offspring.
What are the genetic tests that are changing the world of prenatal screening?

Free circulating fetal DNA testing
Maternal blood also contains a certain amount of cells from the fetus. By recovering these it is possible to analyze its DNA in the first weeks of gestation. These tests are safe for both mom and baby and have a high level of reliability.

Free fetal DNA tests are used to identify common chromosomal abnormalities, such as Down's syndrome. They are especially recommended for older couples and give a much earlier response to traditional tests. Nevertheless, in case of a positive result, it is advisable to use the amniocentesis, too.

Widened bearer screening

In the past, the history was the only way to test for the presence of genetic diseases in the family. Even today it is a key element in deciding whether and which genetic tests to perform. The tests also focused on a particular set of abnormalities. This made it impossible to identify any variants linked to different pathologies.

Extended bearer screening is a wide-ranging genetic test that identifies variants of over 100 diseases. To do just that, you need a blood sample for each couple member. If the same anomaly emerges in both, then there is the risk that the offspring will manifest the disease. It is estimated that this is about 5% of the couples who undergo screening.

Sequencing the Exam
In some rare cases, ultrasonography reveals malformations in the fetus that can not be diagnosed with traditional genetic testing. Sequencing of the next generation is focused on developmental and health related genes. For this reason it is also useful for assessing the health of the fetus and can provide a diagnosis in 30% of the cases.
Unlike invasive prenatal diagnosis, this requires amniocentesis. Even though it has a minimal risk, it is possible to intervene immediately at birth.


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