Objectives To report the clinical performance of massively parallel sequencing-based non-invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13

Objective To report secondary or additional findings arising from introduction of non-invasive prenatal testing (NIPT) for aneuploidy by whole genome sequencing as a clinical service.Methods Five cases with secondary findings were reviewed. ResultsIn 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 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.Conclusion 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.

Uniparental disomy (UPD) is an uncommon chromosome condition, but UPD involving chromosome 21 is rarely reported. We reported here a case who had first trimester screening test for Down syndrome, chorionic villus sampling for fetal karyotyping, quantitative fluorescence polymerase chain reaction (QF-PCR), as well as non-invasive prenatal testing (NIPT) by maternal plasma sequencing. There were discordant results between fetal karyotyping and NIPT due to UPD 21combined with confined placental mosaicism of trisomy 21. This demonstrated that it is possible to detect placental mosaicism by NIPT, but further studies are required to confirm its sensitivity. Therefore, all positive NIPT results must be confirmed by conventional invasive test and karyotyping. QF-PCR has the additional benefit in diagnosing UPD.

Objectives To evaluate the performance of a massively parallel sequencing (MPS)-based test in detecting fetal

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Nature has produced many materials, things, and processes at all scales, from the large to the tiny. The newly growing area of biomimicry enables the development of materials, tools, and techniques with desired features by mimicking biology or nature. Consequently, the traits of animals, plants, and insects in nature have drawn much attention. Because of its surface roughness and epicuticular waxes, the lotus leaf, for instance, has a superhydrophobic surface. These surfaces feature a water-repellent effect and high and low-contact angle hysteresis. This essay briefly introduces the theoretical wetting process before describing some of the traits of several naturally occurring species. Next, a thorough analysis of artificial superhydrophobic surfaces made in the last five years utilizing the most popular fabrication methods is provided.

Objectives: The objective of this study was to compare the maternal and neonatal outcomes in triplet pregnancies according to the mode of delivery. Methods: Medical records were reviewed in triplet pregnancies who were delivered in the Seoul National University Hospital between Jan. 1997 and Jan. 2015. This case-control study included 18 triplet pregnancies with vaginal delivery (VD group) and 36 control triplet pregnancies with Caesarean delivery (CD group), matched for gestational age at delivery (1:2). In maternal outcomes, pre-eclampsia, gestational diabetes mellitus, preterm labour, preterm premature rupture of membrane, antenatal steroids and post-delivery transfusion were included. Neonatal outcomes included Apgar score, neonatal intensive care unit (NICU) admission, NICU stay duration, respiratory distress syndrome, bronchopulmonary dysplasia, intraventricular hemorrhage and periventricular leukomalacia and necrotising enterocolitis. Results: Median gestational age at delivery was similar between the two groups (33.3 weeks in VD group vs. 33.2 weeks in CD group). CD group had a higher rate of nulliparous pregnant women than VD group (91.7% vs. 55.6%, p < 0.01). No significant differences in other demographic findings were found between the two groups. Maternal and neonatal outcomes were not different according to the mode of delivery, while the rate of low 5 min Apgar score (<7) was higher in CD group than VD group (18.5% vs. 1.9%, p < 0.01). Conclusions: These findings here in suggest that neonatal outcomes in vaginal delivery were comparable to those in Caesarean delivery. However, the retrospective case-control study design and the small sample size in this study may limit the generalisation of vaginal delivery as a possible option in triplet pregnancies.