Concise History of Prenatal Diagnostic Service in Russia

Abstract

Evolution of prenatal diagnostic service (PDS) in Russia is briefly outlined. It has started in the middle of 1960s, when it was mainly treated as a part of medical genetic counselling (period 1). In 1993 PDS was officially approved by the Federal Ministry of Health Care as a new clinical service. For many years, 1993–2000 (period 2), the infrastructure of PDS, as a part of medical genetics, corresponded to territorial and administrative structures, including 72 local, 16 regional and 7 federal medical genetic centres. Each of those had specific duties including medical genetic counselling of pregnant women, their biochemical and ultrasound screening, foetal tissue sampling and laboratory analysis. The main goals of PDS at the beginning included elaboration of screening programmes and the mastering of new laboratory methods. At this period, major improvements in PDS concerned foetal examination with ultrasound (US) and foetal tissue sampling. Original chromosome preparations from chorionic villi provided high efficacy of prenatal karyotyping. Methods for molecular diagnostics of severe monogenic disorders as well as biochemical testing of embryonic protein markers in maternal blood at the first and second trimesters have been applied since the early 1990s. Conspicuous contributions of scientific and clinical staffs from Saint Petersburg in elaboration of diagnostic and screening methods paving the way to PDS in Russia are emphasized. The third period could be attributed to the federal law in 2000 with its order on prenatal US testing of all pregnant women on the 11–14, 18–21 and 31–34 weeks of gestation (w.g.). The next major step corresponds to the transition of PDS from the second to the first trimester of pregnancy. This decisive shift should be attributed to a new early prenatal or combined screening (EPS/CS) initiative approved by the Ministry of Health Care in 2010. EPS relies on combined US and biochemical screenings supplemented with automated risk assessment of foetal chromosomal disorders in the women on their 11–14 w.g. The efficacy of EPS/CS has been repeatedly proven within the next few years in many prenatal centres and becomes a mainstream of PDS in Russia. Meanwhile, starting from 2012, implication of new highly productive molecular and molecular cytogenetic methods of PDS has progressively increased. Though rather efficient at present, PDS needs further modifications stemming from array CGH and non-invasive prenatal diagnosis (NIPD). Necessity for elaboration of some sophisticated compromise between EPS and NIPT in Russia is now very urgent.