Kit for non-invasive prenatal diagnosis of fetal trisomy in pregnant women and method of use thereof

Abstract

The invention relates to a kit for noninvasive prenatal diagnosis of pregnant woman fetal trisomy syndrome. The kit comprises the following ingredients including an upstream and downstream primer pair PP trisomy designed by aiming one or several of No.21, No.18 or No.13 chromosomes, and an upstream and downstream primer pair PP autosome designed by aiming at any one autosome except the No.21, No.18 or No.13 chromosomes, wherein any one pair of PP trisomy and PP autosome needs to meet the following conditions that 1, the melting point difference values between every two primers of the four primers is within 4 DEG C; 2, the amplicon length is smaller than or equal to 150 bp and a non-target product is not generated; 3, the melting point difference value of the two amplicons is 2 DEG C or higher; 4, the melting peaks of the two amplicons are obviously separated, so the shoulder peak is not formed. The kit has the advantages that simplicity, convenience and high speed are realized; the accuracy and the sensitivity are high; the errors are small; the precision is high, so that the effective Down symdrome screening gestational week period is shortened by at least three weeks.

Description

technical field [0001] The invention belongs to a kit for prenatal diagnosis of fetal trisomy syndrome 21, 18 trisomy syndrome and 13 trisomy syndrome, in particular to a quantitative detection of the relative content of abnormal chromosomes and normal chromosomes in the blood of pregnant women with the possibility of trisomy kits and methods of use thereof. Background technique [0002] Chromosomal abnormal genetic disease is a kind of disease caused by abnormal number of chromosomes and morphological aberration, which can easily lead to spontaneous abortion, stillbirth and premature death, and is one of the important causes of congenital heart disease and mental retardation. With the development of biomedical technology, more and more chromosomal aberration diseases have been discovered. One of the more special is a class of autosomal trisomy diseases, mainly including trisomy 21, trisomy 18 and trisomy 13. Trisomy 21, also known as Down's Syndrome, is an incurable conge...

AI Technical Summary

Problems solved by technology

[0004] Existing amniotic fluid, umbilical cord blood puncture or chorionic villus sampling detection is highly accurate, but it is easy to cause great pain to pregnant women

Among the non-invasive detection methods, ultrasound detection has low accuracy and is suitable for auxiliary screening; in serological detection, it is difficult for a single marker to meet the detection requirements, while the multi-marker combined detection method is cumbersome, serological detection is complicated, and the accuracy is limited

The detection methods of free fetal DNA and RNA in plasma and serum of pregnant women require high technical level of researchers, the detection method has a sensitivity of about 90%, and often requires the help of expensive high-throughput detection platforms or mass spectrometry detection platforms

Existing technologies are still unable to achieve efficient, accurate, fast and simple detection requirements

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