Evaluation of the application of NIPT-plus inscreenin chromosome MMS
Objective To explore the application of expanded non-invasive prenatal testing(NIPT-plus)in screening chromosome microdeletion/microduplication syndrome(MMS).Methods The NIPT and NIPT plus test results of 3 860 pregnant women from January 2018 to December 2020 in the First Af-filiated Hospital of Sun Yat sen University and 10 samples from the room quality assessment in 2022 were se-lected.Among them,24 pregnant women underwent prenatal diagnosis by chromosome microarray analysis(CMA)were involved.Results The concentration of fetal free DNA of NIPT-plus in 24 pregnant women and 10 quality evaluation samples was significantly higher than that in NIPT.The total sequencing data in-creased by 1.39～1.58 times,and the effective sequencing data increased by 1.20～1.35 times.NIPT plus of 24 pregnant women samples showed 1 trisomy 18,1 trisomy 21,2 MMS,NIPT showed 1 trisomy 18,1 trisomy 21;NIPT plus of 10 quality evaluation samples showed 9 MMS and 9th sample had sex chromosome aneuploi-dies(SCAs),while NIPT only showed 1 case of SCAs.Conclusion NIPT plus can be effectively applied to the screening of MMS within the scope of our hospital's system detection to reduce birth defects.
NETL
NSTL
万方数据
维普
