According to the World Health Organization, 211 million pregnancies occur annually. Pregnancy loss before week 20 occurs in approximately 15–25% of all cases. About 50% of losses are secondary to chromosomal abnormalities, including monosomy and trisomy. In many cases, these errors are episodic in nature and do not imply future pregnancy losses. Habitual miscarriage (NSP) is defined as the loss of two or more pregnancies before the 20th week of pregnancy. The incidence of PNB is approximately 1 in 100 pregnancies. Several studies have already attempted to identify genes in which mutations can lead to embryo death. However, their results rarely indicated the same genes. Researchers from Baltimore (USA) evaluated the known genetic causes of PNB identified by exome sequencing and showed what the candidate genes are responsible for.
Researchers from China analyzed the cost-effectiveness of various methods of prenatal screening for Down Syndrome and concluded that while NIPT (non-invasive prenatal testing) is a more effective and safer method, CMSS (conventional maternal serum screening) is unlikely to be replaced due to at a better price.
In several countries, NIPT (non-invasive prenatal test) is used as a first-line test for all pregnant women, which allows to bring the accuracy of detection of frequent aneuploidy to almost 100%, says Elena Baranova, Ph.D., medical director of the company EVOGEN, at the IV All-Russian seminar "Reproductive Potential of Russia: Versions and Contraverses".
