Noninvasive screening method of chromosomal anomaly birth defects during early gestation

Abstract

The invention relates to a screening method of chromosomal anomaly birth defects during early pregnancy. The screening method comprises the following steps of: obtaining basic background parameters and correction background parameters of a checked pregnant woman input in a computer; obtaining selected ultrasonic detection markers and maternal serum biochemical markers during selected gestational weeks; calculating fetal Delta-NT value; calculating and correcting medium value multiple; calculating background risk; calculating the likelihood ratio of the Delta-NT value; calculating the likelihood ratio of the medium value multiple of the serum biochemical markers; calculating the final risk value according to sequential screening principle; and judging whether the final risk value is more than a predetermined risk truncation value or not, if so, sending a high-risk index signal, otherwise sending a low-risk index signal. The screening method is a screening method specially aimed for the birth defects of Chinese ethnic groups during early gestation and has the advantages of high detectable rate, low false positive rate, high efficiency and safety.

Description

technical field [0001] The invention belongs to the field of medical clinical diagnosis and relates to a screening method for abnormal chromosome birth defects in the first trimester. Background technique [0002] Chromosomal abnormalities are the most common neonatal birth defects, among which trisomy 21, trisomy 18 and trisomy 13 account for about 95% of the total number of chromosomal abnormalities after birth. [0003] Trisomy 21, also known as Down syndrome, is the most common neonatal chromosomal abnormality disease, and its incidence rate is 1 / 600-1 / 800 of live births (Li Pu, Medical Genetics [M] (first Edition), Beijing: Peking Union Medical College Press, 1999), because there is no effective treatment for the disease, and the patients are mentally retarded, often accompanied by a variety of serious congenital defects, thus bringing heavy burdens to society and families. The burden on the treatment of Down syndrome in my country is as high as 2 billion yuan per year. ...

AI Technical Summary

Problems solved by technology

[0009] (1) Whether it is the screening method of serum markers in the first trimester or the second trimester, the detection rate can only reach about 75% due to the limitation of its own technical methods, and the false positive rate also increases accordingly

[0010] (2) The median value of the normal population of each serum marker is not completely obtained from the data of the normal Chinese population, resulting in deviation of the test results

[0011] (3) The screening results fail to take into account the correction of background factors or the consideration is not perfect, which affects the accuracy of the screening results

[0012] In addition, a few screening methods considering NT markers only compare the NT detection value with the critical value, failing to consider the correlation between the continuous change of NT value and the risk rate, which greatly increases the false positive rate

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