Abstract: Provided are a composition for diagnosing Down syndrome, a kit including the composition, a diagnostic method, and a method of providing information for diagnosing Down syndrome, the composition including an agent for measuring a methylation level of any one gene selected from the group consisting of MXRA8, MIB2, KIF26B, SP5, ZIC4, ENPEP, PITX2, SH3BP2, SEPP1, FLJ32255, SHROOM1, LINC00574, LOC154449, PRRT4, TMEM176B, MNX1, LOC101928483, EGFL7, NACC2, C9orf69, TLX1, FGF8, TACC2, CPXM2, NKX6-2, TLXINB, IQSEC3, PCDH8, F7, SOX9, PNMAL2, THBD, MAPK81P2, KLHDC7B, GPR143, IGHMBP2, MRGPRD, CHODL, NCAM2, CYYR1, GRIK1, OLIG2, CLIC6, SIM2, HLCS, MX2, MX1, TMPRSS2, SLC37A1, PDE9A, CBS, CRYAA, C21orf2, TRPM2, TSPEAR, LINC00162, SSR4P1, SLC19A1, LOC100129027, MCM3AP, YBEY, PRMT2, and ITSN1. Thus, Down syndrome can be diagnosed early with high accuracy, and the disclosure is expected to be applied as key a technology in the field of Down syndrome diagnosis.

Abstract: Provided are a method of providing information for diagnosing Down syndrome and a method of diagnosing Down syndrome, the method comprising measuring a methylation level of a Down syndrome biomarker in a biological sample separated from a fetus, comparing the measured methylation level of the biomarker with a methylation level of the first biomarker and the second biomarker in the biological sample separated from a normal control group, and determining a presence or a risk of Down syndrome by comparing the methylation level, wherein the biomarker is a first biomarker present on chromosome 21, a second biomarker present on a chromosome other than chromosome 21, or a combination thereof. Thus, Down syndrome can be diagnosed early with high accuracy, and the disclosure is expected to be applied as a key technology in the field of Down syndrome diagnosis.

Abstract: Provided are: a composition for diagnosing pre-eclampsia; a kit; a method of diagnosing pre-eclampsia using the same; and a method of providing information on diagnosis of pre-eclampsia. The composition, the kit, and the methods provide the effect of enabling the accurate and sensitive diagnosis of pre-eclampsia in a subject.