A kit for assisting in diagnosing whether the fetus to be tested is a patient with trisomy 21

Abstract

The invention provides a kit for auxiliary diagnosis of 21-trisomy syndrome of a fetus to be tested. The kit comprises a nucleotide sequencing tool, samtools-0.1.19 software, a 21-trisomy syndrome screening program, and a carrier recording the following operation specifications: (1) taking a normal check blood sample and a blood sample to be tested, and sequencing; (2) invoking the samtools-0.1.19 software in the 21-trisomy syndrome screening program, inputting the sequencing results of the normal check blood sample and the blood sample to be tested into the 21-trisomy syndrome screening program, and inputting'perl T21.pl ctrl test n' so that the program outputs xi(i=1-n); a formula is as shown in the specification, wherein xbar as shown in the specification is the mean value of xi(i=1-n), and sd(x) is the standard deviation of xi(i=1-n); a formula is as shown in the specification, wherein t(a-1)(x) is a probability density function of t distribution having the degree of freedom of n-1; if p is less than 0.01, indicating that the fetus to be tested is the 21-trisomy syndrome patient; and if p is greater than 0.01, indicating that the fetus to be tested is not the 21-trisomy syndrome patient.

Description

technical field [0001] The invention relates to a kit for assisting in diagnosing whether a fetus to be tested is a patient with trisomy 21. Background technique [0002] Trisomy 21, also known as congenital stupidity or Down syndrome, is the most common birth defect disease in children caused by autosomal aberrations. Modern medicine has confirmed that the incidence of trisomy 21 is related to the mother's pregnancy age, which is an abnormality of chromosome 21 (an extra chromosome 21). Older pregnant women and egg aging are important reasons for non-separation. [0003] Children with trisomy 21 are characterized by the following: [0004] (1) Obvious special facial signs, such as wide distance between eyes, flattened nose, small eye clefts, upward slant of eyes, epicanthus, small outer ears, fat tongue that often sticks out of mouth, excessive salivation, and stature Short stature, smaller than normal head circumference, short anterior / posterior diameter of the head, fl...

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Problems solved by technology

[0005] (2) Often present with lethargy and difficulty in feeding, and its mental retardation gradually becomes more obvious with age, with an IQ of 25-50, delayed motor development and sexual development;

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