Method for screening Down's syndrome through second trimester maternal serum alpha-fetoprotein variants L2 and L3

Abstract

The invention discloses a method for screening Down's syndrome through second trimester maternal serum alpha-fetoprotein variants L2 and L3. The method comprises the following steps of collecting a plurality of pregnant women who are definitely diagnosed as DS fetuses through amniotic fluid cell chromosome karyotyping for forming a case set, and randomly selecting a plurality of pregnant women with normal fetus development for forming a comparing set; testing the AFP-L2 and AFP-L3 levels of the serum of the two sets of pregnant women according to an enzyme linked immunosorbent assay method, calculating an optimal critical value and a curve lower area of the AFP-L2 and AFP-L3 screened DS fetus according to an ROC curve; and in testing, and when the AFP-L2 and AFP-L3 levels of the serum of the to-be-tested pregnant woman exceed the preset threshold, determining a fact that the fetus of the to-be-tested pregnant woman is the DS fetus. The method has a beneficial effect that the second trimester maternal serum alpha-fetoprotein variants L2 and L3 realize relatively high sensitivity and specificity in screening the DS fetus and are relatively good markers for screening the DS.

Description

technical field [0001] The invention relates to the field of medical detection, and mainly relates to a method for screening Down's syndrome in maternal serum alpha-fetoprotein heterogeneity L2 and L3 in the second trimester. Background technique [0002] Down's Syndrome (Down's Syndrome, DS), also known as Trisomy 21 and Congenital Stupidity, is a common type of genetic disease with birth defects in newborns. It is caused by an extra chromosome 21 than normal Syndrome characterized by intellectual developmental disability [1-2] . Prenatal screening refers to screening the risk of fetal DS from maternal serum through a simple, economical and less invasive detection method [3] At present, alpha-fetoprotein (alpha-fetoprotein, AFP), free human chorionic gonadotropin β subunit (free β subunit of human chorionic gonadotropin, free β-HCG) and free estriol (unconjugated Estradiol) in maternal serum in the second trimester are mostly used. , uE3) and other markers for screening ...

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Problems solved by technology

Some studies have shown that AFP-L2 or AFP-L3 is superior to AFP in screening DS [9-10] , but there are few reports on the combined screening of AFP-L2 and AFP-L3 for DS. Therefore, the author selected 61 pregnant women with healthy fetuses and 88 pregnant women with prenatally diagnosed DS fetuses as research objects to investigate the effects of maternal serum AFP-L3. The relationship between L2 and AFP-L3 levels and DS fetuses and the efficiency of joint screening

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