Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cell-free fetal DNA in maternal plasma: The first clinical experience in Korea

mostly trisomy 21, relies exclusively on biochemical and sonographic measurements performed in the first and second trimesters. With a 3-5% false-positive rate, first-trimester screening achieves a detection rate of about 60-95% for trisomy 21 [1-3]. In 1997, Lo et al. [4] first demonstrated the presence Noninvasive prenatal test for fetal chromosomal aneuploidies by massively parallel sequencing of cellfree fetal DNA in maternal plasma: The first clinical experience in Korea