ABSTRACT
Objective To analyze the clinical application of high?throughput gene sequencing technolo?gy and STR in chromosome karyotype analysis of the villus tissues of spontaneous abortion. Methods In 27 ca?ses of spontaneous abortion after pregnancy,classic cell of villus tissues culture and chromosomal karyotype anal?ysis,and high ?throughput gene sequencing technology and STR were performed,and then compared the analysis results of two methods. Results ( 1) The successful rate of cell of villus tissues culture and chromosomal karyo?type analysis was 85%( 23/27) ,of high?throughput gene sequencing technology and STR was 96%( 26/27) ,and the difference was not significant( P>0. 05) ( 2) In the 4 cases that failed in karyotype analysis,there were 3 ca?ses showed abnormal chromosomal number variation( CNV) in high?throughput gene sequencing technology and STR. ( 3) Of the 23 cases,chorionic villus was successfully cultured in 10 cases,abnormal karyotypes were iden?tified in 13 cases,the positive rate was 57%. Of the 26 cases,high?throughput gene sequencing technology and STR was successfully checked in 3 cases,abnormal CNV were identified in 23 cases,the positive rate was 85%, the difference was significant(χ2=6.387,P<0.05). (4)The rates of chromosomal number abnormality were 52%( 12/23) and 50% ( 13/26) of karyotype analysis and chromosome aberration detection,respectively. In 10 cases of normal cell culture karyotype,there were 7 cases in the presence of micro deletion / micro repetition de?tected by high?throughput gene sequencing technology and STR. Conclusion The method of massively parallel sequencing in chromosome analysis,compared with the method of cell of villus tissues culture and chromosome a?nalysis,can be accurate and quick,and has high successful rate in detecting the chromosome of non aneuploid and deletion/duplication abnormality,which can be a good complementary and alternative method of the classic cell of villus tissues culture and chromosome karyotype analysis.
ABSTRACT
Objective To understand the relationship between embryonic chromosomal abnormalities and missed abortion by high-throughput gene sequencing, so as to provide a basis for guiding the next pregnancy.Meth-ods By chromosome detection on villi chromosome of 52 cases of missed abortion by high-throughput gene sequen-cing technique, the types of chromosome abnormalities and the proportion were investigated.Results Among villi samples from the 52 cases of missed abortion, chromosomal abnormalities were founded in 28 cases, including 24 ca-ses of number abnormality (17 cases of trisomy, 6 cases of triploid and a case of monomer) and 4 cases of structural abnormalities.Conclusion Embryonic chromosomal abnormality is the main cause of missed abortion in early preg-nancy.High-throughput gene sequencing technology used to detect the villi chromosome is comprehensive, fast and accurate, helping to clarify the cause of missed abortion and guide the next pregnancy reasonably.