Method and device for simultaneously determining fetal haplotype and aneuploidy of chromosome

Abstract

The invention provides a method and a device for simultaneously determining a fetal haplotype and the aneuploidy of chromosome. The method comprises the steps of (1) respectively extracting a first DNA, a second DNA and a third DNA from a body fluid sample of a pregnant woman and a sample of the father of a fetus, wherein the first DNA is a mixture of the DNA of the mother and the DNA of the fetus, the second DNA is a genome DNA of the mother, and the third DNA is the DNA of the father; (2) simultaneously or respectively sequencing the first DNA, the second DNA and the third DNA of at least one part so as to correspondingly obtain a first reading section, a second reading section and a third reading section; (3) respectively comparing the first reading section, the second reading section and the third reading section with a reference sequence, and performing (a) or (b) according to an obtained comparison result to screen out a specific polymorphic site; (4) determining the fetal nucleic acid content of the body fluid sample of the pregnant woman according to the quantity of the reading sections, which support the screened specific polymorphic site, in the comparison result of the first reading section; (5) simultaneously determining the fetal haplotype and the aneuploidy of the chromosome according to the comparison result and the fetal nucleic acid content.

Description

technical field [0001] The invention belongs to the field of biomedicine, and particularly relates to a method and a device for simultaneously determining fetal haplotype and chromosome aneuploidy. Background technique [0002] Birth defects are structural, functional or metabolic abnormalities that occur in a baby before birth. At present, more than 7,000 genetic or semi-hereditary birth defect diseases have been discovered in the world. According to the 2001 US MARCH OF DMES (MOD) Foundation report, the top 5 severe genetic or semi-genetic birth defects are cardiovascular defects, neural tube defects, and hemoglobin diseases (thalassemia and sickle cell anemia) , Down syndrome, and glucose-6-phosphatase dehydrogenase (G6PD) deficiency. These 5 diseases account for about 25% of all birth defects [U.S. Department of Health And Human Services, Centers for Disease Control and Prevention. Centers for Birth Defects Research and Prevention [R]. Atlanta: CDC. 2003; Hsu L YF. Pre...

AI Technical Summary

Problems solved by technology

There is also a lack of simultaneous screening methods for aneuploidy and single gene diseases in early pregnancy (before 16 weeks of gestation)

Images