Practical and fundamental results of prenatal diagnostics in North-West Russia

Abstract

Organized 25th years ago laboratory was of the first relevant prenatal center in Russia. Originally elaborated methods for chromosome preparations from different embryonic tissue samples (chorionic & placenta villi, umbilical cord blood) and for molecular genetic analysis of common and most sever inherited disorders such as cystic fibrosis, haemophilia A and B, Deuchenn myodistrophy, spinal muscular atrophy, phenylketonuria, adreno-genital syndrome, myotonic dystrophy, Huntington chorea, Martin-Bell syndrome etc. as well as automatic programs for biochemical screening of embryonic marker proteins substantiated efficient prenatal diagnosis service launched in Saint-Petersburg and in North-West region of Russia. Altogether 14 000 invasive prenatal diagnostics were carried out so far with total 1029 fetuses with chromosomal (734) or genetic (295) disorders identified. Implication of QF-PCR method for detection of common chromosomal disorders, one-stop clinic algorithm, preimplantation diagnosis as well as non-invasive diagnostics of fetal sex and Rh-factor are currently at use in our prenatal diagnostics service. Array — CGH for submicroscopic rearrangements, non-invasive diagnostics of chromosomal and genetic disorders as well as implication of Genetic Form of Female Reproductive Health, elaborated in our laboratory for prevention of fetal and pregnancy complications are our close future

Keywords

prenatal diagnosis / genetic and chromosomal disorders / invasive and non-invasive methods

RIGHTS & PERMISSIONS

Baranov V.S., Aylamazyan E.K.