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Aurora magazine

A prenatal test for sickle cell anemia is under development

To date, to diagnose sickle cell anemia in a fetus requires an invasive test, which involves a risk of miscarriage. A team of British researchers decided to solve the problem by developing a non-invasive prenatal screening test even for this disease.

Dr. Julia van Campen explained that the test works like the traditional fetal DNA test. The doctors isolate the cells of the fetus present in the maternal blood, in order to analyze its DNA. If the test is negative, everything is fine. If it is positive, we proceed with more invasive controls.

The test should be used for couples where both parents are carriers of sickle cell disease. In fact, for the disease to manifest itself, it is necessary for the child to inherit the sick gene from both parents. There is therefore 1 possibility out of 4 that the child of a couple of carriers becomes ill. Unfortunately it is not easy to develop a non-invasive prenatal test for such a disease. Over the years there have been attempts, all failed. Until today, at least.

The researchers analyzed samples from 24 pregnant women carrying sickle cell disease. Using a unique molecular identifier, they were able to analyze tiny DNA fragments taken from the 8th week of gestation. The test proved to be reliable in 21 cases out of 24 and only in 3 cases gave unclear results. This is only a first step, but the authors of the study are confident of being able to develop a reliable test even for this disease.


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Should prenatal screening for hepatitis C be universal?

According to the team of Dr. Michelle Rose, prenatal screening against hepatitis C should be universal. Testing all women instead of only those at risk would be more efficient and even cheaper. To prove it there is a study of almost 20,000 pregnant women, conducted in several phases between 2014 and 2017.

Universal prenatal screening makes it possible to identify the disease in a shorter time, so as to deal with it earlier and more effectively. In addition, it is also cheaper than risk based screening. Although there is a higher cost immediately, it saves a lot of resources in the following years. Compared to the $ 2,905 extra spent during the study, $ 100,000 were saved in treatment due to late diagnosis.

Testing only women at risk leaves behind many patients who are positive for hepatitis C. The infection develops unchecked and it is possible for the woman to infect other people. All this could be avoided with controls on all pregnant women, independent of the extent of the risk. This way you could start many treatments before and even prevent contagion.

The study involved 19.453 women aged 13 to 52, all being treated at Norton Healthcare in Louisville. This area is in fact the epicenter of a tremendous opioid crisis, which also affects other aspects of common life. In the state of Kentucky, the rate of young women with hepatitis C is 10 times higher than in the rest of the United States. Not all would be considered "risk subjects", which prompted Dr. Rose to offer the prenatal screening test to all pregnant women.


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Prenatal screening helps genetic analysis in China

A team of Chinese researchers has sequenced the genome of over 140,000 women. This is the most important large-scale genetic analysis carried out to date on Chinese people. Data come from prenatal screening tests and include a representative sample of the entire population. The analysis is still ongoing and could reveal new information on the traits and predispositions of the population.

In the past, the cost of genetic sequencing was too high to study the genetic evolution of the genetic population. Collecting data from hundreds of thousands of people was virtually impossible. On the other hand, the number of women recurring - and recurring - to the fetal DNA test was increasing. The number has grown over the years and it is estimated that to date they have used about 6 million Chinese women. The principal author of the study, Xun Xu of the BGI-Shenzhen center, took the ball.

Fetal DNA testing is a milder sequencing than that performed for research purposes. In fact, it collects about 6% -10% of the entire genome. Nevertheless, it allows access to a huge amount of data and to have a much broader view of the genetic heritage of a people. Precisely for this reason, it represents a unique tool to analyze more closely a diverse people like the Chinese one.

The study involved 141.431 women belonging to 36 of the 55 ethnic minorities present in China. The data therefore represent about 1 / 10,000 of the Chinese population, a large and varied sample. The study therefore offers a fairly faithful portrait of today's China from the genetic point of view. However, there are some limitations.

Prenatal screening tests have not been able to provide accurate data on individuals. Furthermore, there is about 20% of the genome in which the data to be analyzed are missing. However, this is a huge step forward, which has allowed us to compare the genome of different populations.


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What information do women want from prenatal screening?

Researchers at the Murdoch Children's Research Institute (MCRI) carried out a study on the relationship between expectant mothers and prenatal screening tests. Specifically, they examined how much information they would like to receive these women and what kind. An option that is not available to date.

The most used method for non-invasive prenatal screening is fetal DNA analysis. Doctors use a sample of maternal blood to isolate shreds of DNA from the fetus. In this way they can detect any variations inside it related to a disease. The method is especially useful for conditions linked to a certain genetic cause, such as trisomies. For other conditions, however, the genetic causes and therefore the diagnosis are still uncertain.

The study in question asked 111 pregnant women if they could have wanted to know all the details of a prenatal screening. These would include both the 99.9% secure outcomes available today and all genetic abnormalities whose meaning is not yet known.

The participants talked to a consultant, who gave them all the information about the genetic tests. The consultant then proposed two options: to receive only reliable and relevant information for the child's health; receive all the information. None of the children showed visible abnormalities with ultrasound.

About 60% of women decided to receive all the genetic test information. The decision does not seem to have caused any adverse effects from the psychological point of view. However, he highlighted the importance of turning to a geneticist, who explains the outcome of all the results.


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