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.
A significant correlation was found between the termination of SCA-affected pregnancy and the presence of fetal sonographic abnormalities, type of SCA, maternal age, and presence of infertility.
ITU parameters were moderately correlated with station. There was constant high correlation between AOP and HPD. Prediction of TD in primiparous women using ITU parameters was similar to that of using cervical dilatation.
Increasing use of second-line therapies among women with massive PPH was associated with a decreasing trend for rescue hysterectomy. Obstetricians should, therefore, consider all available interventions to stop PPH, including early use of second-line options.
Intrapartum translabial ultrasound is generally better tolerated than digital vaginal examination for assessment of labour progress, making it an acceptable adjunctive assessment tool during labour.
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