Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities

Bianchi, 2012, Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing, Obstet Gynecol, 119, 890, 10.1097/AOG.0b013e31824fb482 Palomaki, 2011, DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study, Genet Med, 13, 913, 10.1097/GIM.0b013e3182368a0e Norton, 2012, Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18, Am J Obstet Gynecol, 207, 10.1016/j.ajog.2012.05.021 Gil, 2014, Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis, Fetal Diagn Ther, 35, 156, 10.1159/000358326 Gil, 2015, Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis, Ultrasound Obstet Gynecol, 45, 249, 10.1002/uog.14791 Wang, 2015, Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases, Genet Med, 17, 234, 10.1038/gim.2014.92 Meck, 2015, Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings, Am J Obstet Gynecol, 213, 10.1016/j.ajog.2015.04.001 Zhang, 2015, Noninvasive prenatal testing for trisomy 21, 18 and 13 – clinical experience from 146,958 pregnancies, Ultrasound Obstet Gynecol, 45, 530, 10.1002/uog.14792 Benn, 2012, Prenatal detection of down syndrome using massively parallel sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011, Prenat Diagn, 32, 1, 10.1002/pd.2919 Devers, 2013, Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors, J Genet Couns, 22, 291, 10.1007/s10897-012-9564-0 Langlois, 2013, Current status in non-invasive prenatal detection of down syndrome: trisomy 18, and trisomy 13 using cell-free DNA in maternal plasma, J Obstet Gynaecol Can, 35, 177, 10.1016/S1701-2163(15)31025-2 Plaisancie, 2014, Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient, Eur J Med Genet, 57, 567, 10.1016/j.ejmg.2014.07.004 Buck, 2011, Minimal genotype – phenotype correlation for small deletions within distal 1p36, Am J Med Genet A, 155A, 3164, 10.1002/ajmg.a.34333 Linnankivi, 2006, 18q deletions: clinical, molecular, and brain MRI findings of 14 individuals, Am J Med Genet A, 140, 331, 10.1002/ajmg.a.31072 Cody, 2014, Establishing a reference group for distal 18q−: clinical description and molecular basis, Hum Genet, 133, 199, 10.1007/s00439-013-1364-6 Tada, 2014, MR spectroscopy in 18q(−) syndrome suggesting other than hypomyelination, Brain Dev, 36, 57, 10.1016/j.braindev.2012.12.003 Oneda, 2014, High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power, Prenat Diagn, 34, 525, 10.1002/pd.4342 Wapner, 2012, Chromosomal microarray versus karyotyping for prenatal diagnosis, N Engl J Med, 367, 2175, 10.1056/NEJMoa1203382 Shaffer, 2012, Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies, Prenat Diagn, 32, 976, 10.1002/pd.3945