Method for screening open neural tube defects through maternal serum alpha-fetoprotein heteroplasmons L2 and L3 in second trimester

Abstract

The invention discloses a method for screening open neural tube defects (ONTD) of fetuses through maternal serum alpha-fetoprotein heteroplasmons L2 and L3 in a second trimester. The method comprisesthe following steps: (1) forming a case group by multiple pregnant women with fetuses determined as ONTD fetuses through ultrasonic tomography, and randomly forming a control group through multiple pregnant women with fetuses who grow normally; (2) detecting the levels of AFP-L2 and AFP-L3 of serums of two groups of the pregnant women by virtue of ELISA, carrying out statistical treatment on the correlation between the levels of AFP-L2 and AFP-L3 of the serums of the pregnant women in the second trimester and the ONTD of the fetuses, and analyzing the screening efficiency by virtue of different constructed risk calculation models; and (3) calculating the optimal critical values and areas under the curve of AFP-L2 and AFP-L, for screening the ONTD fetuses, of the serums of the pregnant women. The method has the beneficial effects that AFP-L2 and AFP-L of the serums of the pregnant women in the second trimester have relatively high sensitivity and specificity to the screening of the ONTDfetuses and are relatively good markers for screening the ONTD, and the screening efficiency of the risk calculation model constructed by virtue of AFP-L2 and AFP-L3 is better than that of an MoM value respectively corresponding to AFP, AFP-L2 and AFP-L3.

Description

technical field [0001] The invention relates to the field of medical detection, and mainly relates to a method for screening fetal open neural tube defects by maternal serum alpha-fetoprotein heterogeneity L2 and L3 in the second trimester. Background technique [0002] Neural tube defects (NTD) is a serious congenital birth defect disease caused by neural tube insufficiency during embryogenesis. It is the result of the combined effects of environment and genetics. 1‰ [1] . According to whether the affected nerve tissue is exposed to the body surface, open neural tube defects (ONTD) and closed neural tube defects are divided. ONTD is more common, including open spina bifida, anencephaly, and encephalocele. Clinical manifestations vary according to the location and severity of the defect [2-3] . Currently, the second trimester (15-20 +6 Zhou) Serological ONTD prenatal screening, mainly to screen three types of ONTD: open spina bifida, anencephaly and encephalocele, throu...

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Problems solved by technology

[0003] In the previous work of this study, the screening efficiency of AFP screening for ONTD was not ideal, and the second-trimester maternal serum dual method (AFP and freeβ-HCG) used Risks 2T birth screening analysis software to screen fetal anencephaly, spina bifida, and encephalocele. The detection rate was 52.63% (10 / 19), 53.33% (32 / 60), 39.13% (9 / 23) [7] ; while the duplex method used LifeCycle 4.0 prenatal screening analysis software to screen ONTD in 46 089 cases and 180 006 cases of pregnant women, and the screening sensitivities were 0 [18] and 38.46% [19]

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