Aneuploidy prenatal FISH detection internal quality control method

Abstract

The invention relates to the technical field of prenatal diagnosis, and discloses an aneuploidy prenatal FISH detection internal quality control method comprising the following steps: the step 1 of construction of a chromosome aneuploid amniotic fluid cell line; the step 2 of preparation of prenatal FISH detection internal quality control cells; the step 3 of establishment of a Levey-Jennings quality control chart; the step 4 of application of the Levey-Jennings quality control chart. The method has the following advantages of constructing a common chromosomal aneuploid amniotic fluid cell line that can be regenerated by an SV40LT gene transfection method for the first time, preparing chimeric quality control cells matched with the Levey-Jennings quality control chart, solving the problemof lack of prenatal FISH detection quality control materials for long term, creating the standardized prenatal FISH detection method based on Levey-Jennings quality control chart and being of great significance for improving the prenatal FISH detection accuracy.

Description

technical field [0001] The invention relates to the field of prenatal diagnosis, in particular to an indoor quality control method for prenatal FISH detection of aneuploidy. Background technique [0002] Aneuploidy is an abnormal number of chromosomes, which occurs in reproductive cells and may lead to infertility, spontaneous abortion and congenital birth defects. It is the most common and serious birth defect. Non-invasive prenatal genetic testing or chromosomal nuclear Type analysis confirmed the diagnosis. In 1992, Ried et al. first reported the detection of fluorescent in situ hybridization (FISH) for chromosomal aneuploidy in amniotic fluid cells. Because FISH detection can make up for the shortcomings of conventional cytogenetic diagnosis such as cell culture failure, time-consuming, and long reporting period, it has been favored in recent years. Widely used in prenatal diagnosis. Although the quality control of molecular genetics prenatal diagnosis has been paid mu...

AI Technical Summary

Problems solved by technology

Although the quality control of molecular genetics prenatal diagnosis has been paid much attention for many years and has become one of the research hotspots at home and abroad, it is difficult to directly obtain quality control materials that can be used in batches by various laboratories from limited prenatal diagnosis case samples. It is also difficult to carry out the industrial preparation of such quality control substances, so the current prenatal FISH detection of chromosomal aneuploidy still cannot carry out standardized indoor quality control

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