NON-INVASIVE PRENATAL TESTING SYSTEM FOR DIAGNOSING FETAL GENETIC ABNORMALITY

摘要

The present invention relates to a non-invasive prenatal testing (NIPT) system for diagnosing fetal genetic abnormality, which uses a blood sample of a mother without damaging the mother or a fetus to diagnose abnormality arising from abnormality of the number of fetal genes in an early stage. Moreover, all processes up to sequencing the blood sample prior to a full genetic analysis to determine chromosomal aneuploidy of a fetus are performed efficiently, so consumption of manpower and time can be minimized. According to the present invention, the system comprises: a blood separation unit separating serum from a blood sample; a deoxyribonucleic acid (DNA) extraction unit receiving the serum to extract genome DNA from the serum; a library construction unit receiving the genome DNA to construct a library and generate an ion sphere particle (ISP); a sequencing unit performing parallel sequencing to acquire base sequence information of multiple polynucleotide pieces; and a gene analysis unit to determine risk based on chromosomal aneuploidy of a fetus according to the base sequence information. A carrying unit includes a plurality of pipettes and pickers capable of being lifted/lowered, and a carrying chip which includes a substrate having multiple fine loading wells on a surface thereof in order to carry the ISP generated in the library construction unit to the sequencing unit. An inlet of the carrying chip has a hopper shape with a radius getting wider towards an upper part in order to facilitate receiving the ISP from the pipette.;COPYRIGHT KIPO 2016