Status of birth defects
The incidence of birth defects in China is about 5.6%, and chromosomal aberrations account for more than 80% of the genetic causes of birth defects, including chromosomal number abnormalities, large fragment deletions / duplications, and copy number variations (CNV), etc. Up to now, more than 300 kinds of chromosomal microdeletion / microduplication syndrome caused by pathogenic copy number variation have been identified, with a comprehensive incidence of nearly 1 / 600 [3], accounting for half of birth defects caused by chromosomal aberrations.
Project introduction
Next generation sequencing technology (NGS Technology) was used to sequence the whole genome in low depth. The sequencing results were compared with the base sequence of human reference genome, and the CNVs of the samples were found by bioinformatics analysis. The tested samples include fetal villus, fetal tissue, amniotic fluid, umbilical cord blood, peripheral blood, etc. the detection content is 23 pairs of chromosomal aneuploidy variation, more than 1MB of deletion and repetition, which can be used to investigate the genetic cause of natural abortion, congenital malformation, mental retardation and other related chromosomal diseases or abnormalities.