OC21.01: Non‐invasive prenatal testing for fetal chromosomal abnormalities by low coverage whole genome sequencing of maternal plasma DNA

• DOI: 10.1002/uog.12701
• Publication Date: 2015-10-13T10:52:55Z
• Authors: T. Lau; M. Chan; P. Lo; F. Jiang; H. Zhang; W. Wang
• Keywords: Trisomy; Chromosomal Abnormality; Abnormality; Cell-free fetal DNA

To review the positive predictive value of abnormal results from 1978 cases non-invasive prenatal testing (NIPT) for fetal chromosomal abnormalities in a single centre. All NIPT by low coverage whole genome sequencing maternal plasma DNA center between August 2011 and February 2013 were reviewed. Bioinformatics analysis covered aneuploidy all 23 pairs chromosomes, large deletion duplications. When an abnormality was detected NIPT, efforts made to obtain pre- or post-natal karyotyping, if necessary placental karyotyping. Of tests, result normal 1928, 50, no could be issued one case. There 30 common trisomies (T21: 24; T18: 4; T13:2), confirmed karyotyping (including case mosaic T21). 11 suspected sex abnormalities. Four declined even after delivery. In remaining 7, origin 6 cases, including XXY (2 case), XXX (1 case) (3 cases). last case, due 45XO mosaicism. 7 uncommon aneuploidies (T3, T6, T7, T9, T22x2, triple trisomy), which 3 confined mosaicism, 2 still ongoing, any form confirmation. 18p- found origin, partial trisomy 18p tetrasomy 18p. is highly sensitive test. If test positive, there always biological explanation abnormalities, it placenta, pregnant woman.