ЭХЭМҮТ
Background: Many severe genetic disorders can be identified in utero. Prenatal diagnosis is a subfield of clinical genetics and gynecology that exemplifies the effective integration of theoretical and clinical medicine. The purpose of the assessment was to review guidelines of the prenatal diagnosis of genetic disorders and to assess Mongolian current situation.
Materials and methods: We selectively reviewed literature, guidelines, and recommendations related to the prenatal diagnosis of genetic disorders. Also we visited governmental and private hospitals that provide medical genetics and prenatal diagnostic services in Ulaanbaatar.
Results: Milestones in prenatal diagnosis history include the development of cytogenetic, molecular genetic, and molecular cytogenetic methods as well as advances in ultrasonography. The latter technique not only improves the safety of invasive procedures, but also enables earlier and more reliable diagnosis of congenital malformations. Moreover, invasive prenatal diagnosis is most commonly performed to assess the embryonal/fetal chromosome set. An increasing number of monogenic diseases can be diagnosed prenatally by either genetic or biochemical testing, depending on the particular disease being sought. Polygenic and multifactorial diseases cannot be reliably diagnosed by genetic testing at present, although a number of malformations can be ascertained prenatally by ultrasonography. Current methods of prenatal diagnosis of genetic diseases in Mongolia include limited methods such as triple tests, ultrasonography.
Conclusion: There is an urgent need to establish and develop prenatal diagnostic centre in Mongolia.
