Method for prenatal screening chromosome abnormality and application thereof

Abstract

The invention discloses a method for prenatal screening chromosome abnormality and an application thereof. The invention comprises the following steps: totally calculating various measurement indicators of normal pregnant women in China to obtain the median of serum marker of single pregnancy people in each gestational week, the median of serum marker of double pregnancy people in each gestational week and the median of translucent thickness of fetal nape of normal pregnant women in each gestational week; detecting the serum marker, fetal number, translucent thickness of fetal nape of the detected pregnant women to determine the gestational weeks of the pregnant women; correcting according to the weight of the detected pregnant women and finally calculating the multiples of the median value (MoM value) of serum marker; then comparing correspondingly the multiples of the median of serum marker of the detected women with the median of serum marker of normal pregnant women according to the gestational weeks of the pregnant women and fetal number, calculating the likelihood ratio of the serum marker of the detected pregnant women to obtain the risk rates of 21 trisome, 18 trisome or 13 trisome and the risk rate of NTD risk.

Description

technical field [0001] The invention relates to a prenatal screening method for chromosomal abnormality and its application, belonging to the field of medicine. Background technique [0002] There are 1 million birth defects in China every year, of which only 30% can be cured or corrected. There are nearly 30 million families in the country who have given birth to children with birth defects and congenital disabilities, accounting for 1 / 10 of the total number of families in the country. In view of the current situation, the key to reducing the birth of defective children lies in prevention, prenatal screening and diagnosis. Prenatal screening refers to the detection of high-risk pregnant women with certain congenital defects from among pregnant women through economical, simple and less invasive detection methods, and then prenatal diagnosis to minimize the birth of abnormal fetuses. Prenatal screening in the first trimester (9-13 +6 week) or mid-term (14-20 +6 Week), main...

AI Technical Summary

Problems solved by technology

Due to differences in factors such as race, region, diet, living environment, and weight, there are relatively large differences in the median data of the population, which leads to the accuracy and reliability of the screening results of these software when processing the information of Chinese pregnant women. decline

my country's prenatal screening department still lacks a set of scientific and effective prenatal screening risk assessment methods for Chinese race

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