Aurora magazine

The Professor Ronald Wapner team identified point mutations responsible for 7.7% of the most serious birth defects, as well as other mutations responsible for 17.9% of other anomalies. To do this he used a new type of sequencing the entire fetal genome, which is based on exome. The method has provided information impossible to obtain with only the analysis of karyotypes or with DNA microarray. This will refine the noninvasive prenatal screening techniques.
The exome makes up about 1.5% of the human genome and encodes proteins. It determines how the genes are expressed and can reveal traits related to gender or a recessive chromosomes, not identifiable with DNA microarray.

According to the researchers, you can hide here the causes of many fetal anomalies not yet identified. At the moment, in fact, the analysis of karyotypes allows to identify about 30% of the anomalies, while the DNA microarray can identify another about 7%. They are techniques that can help you identify many diseases and complications once impossible to find, but you can do better. The purpose of the study was to determine precisely the incremental value of sequencing the entire exome in sequential cases, unselected of fetal structural abnormalities.

The team of researchers examined the patients with symptoms of a fetal abnormality. For women who were still practicing prenatal diagnostic tests, the scientists used a sequencing of the entire exome, analysis of karyotypes or DNA microarray. For others, they have made use of umbilical cord blood. Where possible, they also sequenced DNA from mother and father, to pinpoint the source of any mutations. All this has allowed us to identify a number of pathogenic variants of which first it was suspected the importance, but for which there was no proof.

The sequencing of the exome can help identify phenotypes of de novo mutations, which appeared for the first time in one of the parents and then transmitted to the children. This kind of abnormalities often manifests itself only much later in childhood or even in adulthood. New prenatal diagnostic tests will help however not only to identify, but also to understand its nature and to reveal any unexpected effects. During pregnancy, it is important to monitor the development of the fetus. Prenatal screening tests such as fetal DNA tests are useful for the detection of chromosomal abnormalities.

Source: medscape.com

Illumina, a company specializing in production testing for non-invasive prenatal screening, announced the arrival of an expanded version of VeriSeq. There is talk of a software intended to optimize the analysis of data obtained from the tests, so as to speed up and improve the results. The company announced that the software complies with the requirements governing medical-diagnostic devices in vitro. It also applied the CE mark to the version destined to the clinical laboratories of the European Union.

The software starts with the analysis of data obtained from the sequencing of the DNA samples. Sequencing analyzes fragments of fetal DNA in maternal blood so as to detect any anomalies. It specifically deals with the identification and differentiation of possible cases of fetal aneuploidy for chromosomes 21, 18 and 13. In addition, VeriSeq generate quantitative scores to be added to the data concerned. This gives you a more accurate analysis of the condition of the fetus.

The new version of VeriSeq allows you to process batches of more than 48 samples, three times the current capacity of 16 samples. This will allow the company to meet the growing demand for testing for non-invasive prenatal screening. The software would make it possible to provide the highest quality solutions and at a lower cost. The greater efficiency in the analysis of the sequenced data, in fact, increase the speed of the controls and consequently also bring down the costs.

Source: businesswire.com

When you are talking about prenatal tests "Melius est quam in deficit". According to a study by Quest Diagnostics Nichols Institute, a second non-invasive prenatal screening test would help it to identify false positives and birth defects go unnoticed.

The scientists analyzed duplicate maternal chromosomes, identified by genome sequencing. They identified maternal microduplications or duplications of the maternal chromosome that is easy to mistake for a trisomy. Trisomy is nothing other than the presence of an extra chromosome, that causes Down's syndrome and other diseases. When making prenatal testing, these microduplications sometimes lead to false positives. Perform a second non-invasive prenatal screening decreases instead the possibility of that happening.

The team cited a 2015 study focused on two cases of false positive for trisomy 18. From this, he examined the data of 31,278 women undergoing prenatal screening. The doctors performed a second analysis on the patients, focusing also on microduplications. They then confirmed the new results by means of a DNA microarray process. They have thus improved by approximately 30 percentage points the accuracy of the results for the three diseases: Patau syndrome, Edward's syndrome and Down syndrome. 313 of the initial cases of suspected Down syndrome, have identified 9 false positives. Of 106 diagnosis of Edward syndrome, false positives were 3, while they were 2 for the 93 positive for Patau syndrome.

The second non-invasive prenatal screening tests can also help detect abnormalities otherwise unidentifiable. An essential tool for many expectant mothers who want to ensure the health of their baby.

Source: medpagetoday.com

An Italian-American team has developed a new method to diagnose Creutzfeldt-Jakob disease. It has an accuracy of 100% and is also useful for identifying other neurological diseases.

The test, in fact, is able to recognize also Alzheimer's and Parkinson's. A method to revolutionize the diagnostic criteria of these diseases, allowing to narrow down the times and facilitating the treatments.

Until now, Creutzfeldt-Jakob disease was identified only post mortem by autopsy. The new study provides an initial examination of the cerebrospinal fluid, which follows that of the olfactory mucosa. Doctors remove the mucosa using a nasal swab, painlessly and without the need for anesthesia. Then apply a laboratory test called Real Time Quaking-induced conversion, which requires very few cells. The test detects the presence or absence of altered proteins, index of Creutzfeldt-Jakob disease or other neurodegenerative disorders.

Creutzfeldt-Jakob disease has become famous as the "mad cow disease." The disease in question is however only one of the forms of the disease, inter alia virtually disappeared. The Italian and American researchers have instead developed the test for sporadic Creutzfeldt-Jakob. Creutzfeldt-Jakob disease is a genetic disease, whose causes are unknown and currently incurable. The study opens the door to a more precise diagnosis, which will facilitate the creation of new treatments. The next step will be the development of a gene therapy and maybe even a special method for prenatal diagnosis.

Source: repubblica.it