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Five cases with secondary findings were reviewed. In Case 1, NIPT revealed a large duplication in chromosome 18p, which was supported by arrayCGH of amniocyte DNA, with final karyotype showing mosaic tetrasomy 18p. In Case 2, a deletion in the proximal long arm of chromosome 18 of maternal origin was suspected and http://www.selleckchem.com/products/CP-690550.html confirmed by arrayCGH of maternal white cell DNA. In Case 3, NIPT was negative for trisomies 21 and 18. In-depth analysis for deletions/duplications was requested when fetal structural anomalies were detected at routine scan. A deletion in the proximal long arm of chromosome 3 was found and confirmed by karyotyping. In Case 4, NIPT correctly predicted confined placental mosaicism with triple trisomy involving chromosomes X, 7 and 21. In Case 5, NIPT correctly detected a previously unknown maternal mosaicism for 45X. Non-invasive prenatal testing is able to detect a wide range of fetal, placental and maternal chromosomal abnormalities. This has important implications on patient counseling when an abnormality is detected by NIPT. ? 2013 John Wiley & Sons, Ltd. Non-invasive prenatal testing (NIPT) for common fetal aneuploidies by massively parallel sequencing of maternal plasma http://www.selleckchem.com/products/XL184.html DNA is a new technology detecting close to 100% of trisomy 21 pregnancies with a false positive rate of http://www.selleck.cn/products/MLN8237.html is much to learn and explore. Here, we report five cases of ��unexpected�� secondary chromosomal abnormalities discovered after the implementation of this test in a clinical setting. Full details about the NIPT test were as reported previously.[2] The NIPT test was offered to pregnant women carrying singleton pregnancies from 12?weeks of gestation or beyond. Before the blood test, each woman or couple had individual counseling by an obstetrician and an ultrasound scan to confirm the number of fetuses, fetal viability and fetal size and to exclude major fetal structural abnormalities. A written informed consent was obtained from all women. Five milliliters of maternal peripheral blood was collected into an ethylene diamine tetraacetic acid (EDTA) bottle. Samples were processed according to strict protocol. All subsequent procedures and molecular tests, including cell-free DNA isolation, library construction and sequencing, were performed at the clinical laboratory of BGI-Shenzhen, China, which had been ISO/IEC 17025 certified. Whole genome sequencing was used for the NIPT. For aneuploidy detection, a binary hypothesis t-test and logarithmic likelihood ratio (L-score) between the two t-tests were used to classify whether the fetus had aneuploidy.[1] This approach enabled not only the classification of pregnancies affected and unaffected by trisomies but also the identification of cases with mosaicism.