In Vitro Diagnostic Industry in China - Molecular Diagnosis Analyzers and Reagents XXI

3.4.2 Abortion-Related Chromosome Testing

Recurrent spontaneous abortion (RSA) refers to the loss of the fetus 3 or more times before 28 weeks of gestation according to the usual definition in China, but it is also believed that the second consecutive procedure should be valued and evaluated. Chromosomal abnormalities in embryos are the most common cause of recurrent abortion. Chromosomal abnormalities are reported in about 45% of embryos in accidental early spontaneous abortion. Both Chinese Experts’ Consensus on The Diagnosis and Treatment of Recurrent Spontaneous Abortion and European Guidelines for the Diagnosis and Treatment of Recurrent Loss suggest chromosome karyotype analysis of peripheral blood and its flow products in couples with recurrent abortion, and the use of assisted reproductive technology for abortions caused by chromosomal abnormalities is recommended to solve their fertility problems.

Karyotype analysis is the gold standard for the detection of chromosomal abnormalities, but its operation process is complicated, and cells need to be interpreted manually under the microscope after culture and treatment, which requires a long-time cycle, is highly dependent on personnel skills, provides low test flux, is limited by aseptic conditions, and has the possibility of maternal contamination. The villus cells required for karyotype analysis developed well in the early stage of pregnancy, but after 11 weeks, metamorphosis villi increased, resulting in reduced mitotic phase and poor chromosome morphology, which increased the difficulty of karyotype analysis. If the embryo dies for a long time in the mother or the uterine clearance operation is carried out late, and the success rate of culture will be reduced.

The Abortive Tissue Chromosome Aneuploidy Detection Kit developed by Genesky Bio-Tech Co., Ltd. (Registration Number: G.X.Z.Z. 20,193,400,107) was used for in vitro qualitative detection of six chromosome aneuploidy of human genomic DNA in abortion villous tissue, including trisomy 13, trisomy 16, trisomy 18, trisomy 21, trisomy 22, and X monomer. The test results need to be combined with the special abortion tissue chromosome aneuploidy detection and analysis software (Registration Number: S.X.Z.Z. 20,202,210,756). This is the first application of multiplex Ligation-dependent Probe Amplification (MLPA) technology in China (Patent Number: 201010180551.2) and obtained the registration approval for class III in vitro molecular diagnostic medical device product. It is also the first molecular diagnostic product to obtain the registration approval of a class III medical device product in the field of abortive tissue chromosome aneuploidy detection.

Compared with karyotype analysis, the samples used for MLPA detection do not need to be cultured, so the detection time is short, the operation is relatively simple, the equipment is highly automated, and the detection flux is high. Two studies comparing MLPA with traditional karyotype analysis showed a higher detection success rate with MLPA. The clinical application of MLPA detection products of Genesky Bio-Tech will help improve the ability of hospitals to detect chromosomal abnormalities in abortion tissues.

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