Non‐invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy

Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy.

OBJECTIVES To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6 weeks' gestation. METHODS In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detec...

Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.

OBJECTIVE We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population. STUDY DESIGN This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single...

Noninvasive prenatal testing (NIPT) for fetal trisomies in a routinely first-trimester screening

Results Results from chromosome selective sequencing were available from 253 cases of 255 cases. In two cases fetal cell fraction was below the minimal requirement of 4%. In this population of 255 cases we found euploid pregnancies in 250 cases and 5 aneuploid pregnancies: two trisomies 21, one trisomy 18, one triosmy 13 and one 45 XO. In 195 pregnant women, the performance of screening by comb...

Noninvasive Prenatal Testing for Fetal Aneuploidies Using Cell-Free Fetal DNA - 5/26/17

National guidelines recommend that all pregnant women be offered screening for fetal chromosomal abnormalities, the majority of which are aneuploidies (an abnormal number of chromosomes). The trisomy syndromes are aneuploidies involving 3 copies of 1 chromosome. Trisomies 21 (T21), 18 (T18), and 13 (T13) are the most common forms of fetal aneuploidy that survive to birth. Noninvasive prenatal s...

Combined first trimester screen or noninvasive prenatal testing or both.