Application of chromosome copy number variation sequencing combined with STR typing technique in the genetic analysis of abortion

ObjectiveTo explore the genetic causes of spontaneous abortion and accumulate clinical data by genetic detection and analysis of the 150 cases of abortion.

MethodsA total of 150 patients with spontaneous abortion who underwent in the Obstetrics and Gynecology Department of Anhui Province Maternity and Child Health Hospital from February 2020 to July 2020 were selected.Copy number variation sequencing(CNV-Seq) combined with short tandem repeats(STR) typing technique were used to detect the genetic characteristics of abortion.

ResultsAll 150 cases of abortion were detected successfully, 71 cases were normal(47.33%), 79 cases were chromosomal abnormalities(52.67%).Among them, 56 cases(70.89%) had chromosome number abnormality, 4 cases had chromosome microduplication/microdeletion(2.67%), 14 cases had mosaicisms(9.33%), 3 cases had chromosome number and structure abnormality(2.00%), and 2 cases had uniparental diploid(1.33%).The main chromosomal abnormality which leading to spontaneous abortion was chromosomal number abnormality(37.33%), including chromosome aneuploidy(32.67%) and triploid(4.67%), followed by mosaicisms(9.33%).The chromosomal abnormalities which closely related to spontaneous abortion were (45, X), trisomy 16, (69, XNN), trisomy 21, trisomy18 and mosaic trisomy16.

ConclusionsCNV-Seq combined with STR typing technique is suitable for the detection of chromosomal abnormalities in abortion.It can cover more chromosomal abnormalities and also can realize more accurate and comprehensive diagnosis in abortion.It has great significance to diagnose the genetic factors for spontaneous abortion, guide pregnant women to prepare for pregnancy again and realize the eugenics.