The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China

References

• Papp C, Ban Z, Szigeti Z, et al. Role of second trimester sonography in detecting trisomy 18: a review of 70 cases. J Clin Ultrasound. 2007;35(2):68–72.
   PubMed Web of Science ®Google Scholar
• Watson WJ, Miller RC, Wax JR, et al. Sonographic findings of trisomy 18 in the second trimester of pregnancy. J Ultrasound Med. 2008;27(7):1033–8. quiz 1039.
   PubMed Web of Science ®Google Scholar
• Wright D, Syngelaki A, Bradbury I, et al. First-trimester screening for trisomies 21, 18 and 13 by ultrasound and biochemical testing. Fetal Diagn Ther. 2014;35(2):118–126.
   PubMed Web of Science ®Google Scholar
• Veduta A, Vayna AM, Duta S, et al. The first trimester combined test for aneuploidies – a single center experience. J Matern Fetal Neonatal Med. 2018;31(16):2091–2096.
   PubMed Web of Science ®Google Scholar
• Santorum M, Wright D, Syngelaki A, et al. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet Gynecol. 2017;49(6):714–720.
   PubMed Web of Science ®Google Scholar
• Robson SJ, Hui L. National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening. Aust N Z J Obstet Gynaecol. 2015; 55(5):507–510.
   PubMed Web of Science ®Google Scholar
• Palomaki GE, Kloza EM, O’Brien BM, et al. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. Genet Med. 2017;19(7):778–786.
   PubMed Web of Science ®Google Scholar
• Cheng Y, Leung WC, Leung TY, et al. Women’s preference for non-invasive prenatal DNA testing versus chromosomal microarray after screening for Down syndrome: a prospective study. BJOG. 2018;125(4):451–459.
   PubMed Web of Science ®Google Scholar
• Miltoft CB, Rode L, Tabor A. Positive view and increased likely uptake of follow-up testing with analysis of cell-free fetal DNA as alternative to invasive testing among Danish pregnant women. Acta Obstet Gynecol Scand. 2018;97(5):577–586.
   PubMed Web of Science ®Google Scholar
• Hui L, Teoh M, Piessens S, et al. Early clinical experience of cell-free DNA-based aneuploidy screening: a survey of obstetric sonologists in Australia and New Zealand. Aust NZ J Obstet Gynaecol. 2015;55(2):138–143.
   PubMed Web of Science ®Google Scholar
• Brewer J, Demers L, Musci T. Survey of US obstetrician opinions regarding NIPT use in general practice: implementation and barriers. J Matern Fetal Neonatal Med. 2017;30(15):1793–1796.
   PubMed Web of Science ®Google Scholar
• Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191(1):45–67.
   PubMed Web of Science ®Google Scholar
• Mann K, Ogilvie CM. QF-PCR: application, overview and review of the literature. Prenat Diagn. 2012;32(4):309–314.
   PubMed Web of Science ®Google Scholar
• Kagan KO, Sonek J, Wagner P, et al. Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities. Arch Gynecol Obstet. 2017;296(4):645–651.
   PubMed Web of Science ®Google Scholar
• Sepulveda W, Wong AE, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat Diagn. 2010;30(3):256–259.
   PubMed Web of Science ®Google Scholar
• Wiechec M, Knafel A, Nocun A, et al. How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester? J Perinat Med. 2016;44(2):149–159.
   PubMed Web of Science ®Google Scholar
• Wagner P, Sonek J, Hoopmann M, et al. First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. Ultrasound Obstet Gynecol. 2016;48(4):446–451.
   PubMed Web of Science ®Google Scholar
• Sherod C, Sebire NJ, Soares W, et al. Prenatal diagnosis of trisomy 18 at the 10–14-week ultrasound scan. Ultrasound Obstet Gynecol. 1997;10(6):387–390.
   PubMed Web of Science ®Google Scholar
• Lai S, Lau WL, Leung WC, et al. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years. Prenat Diagn. 2010;30(11):1094–1099.
   PubMed Web of Science ®Google Scholar
• Rossi AC, Prefumo F. Accuracy of ultrasonography at 11–14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol. 2013;122(6):1160–1167.
   PubMed Web of Science ®Google Scholar
• Farraposo S, Montenegro N, Matias A. Evaluation of the role of first-trimester obstetric ultrasound in the detection of major anomalies: a systematic review. J Perinat Med. 2014;42(2):141–149.
   PubMed Web of Science ®Google Scholar
• Karim JN, Roberts NW, Salomon LJ, et al. Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance. Ultrasound Obstet Gynecol. 2017;50(4):429–441.
   PubMed Web of Science ®Google Scholar
• Sepulveda W, Corral E, Ayala C, et al. Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol. 2004;23(4):352–356.
   PubMed Web of Science ®Google Scholar
• Hume RF Jr., Drugan A, Reichler A, et al. Aneuploidy among prenatally detected neural tube defects. Am J Med Genet. 1996;61(2):171–173.
   PubMed Web of Science ®Google Scholar
• Benn P, Curnow KJ, Chapman S, et al. An economic analysis of cell-free DNA non-invasive prenatal testing in the US general pregnancy population. PLoS ONE. 2015;10(7):e0132313.
   PubMed Web of Science ®Google Scholar
• Syngelaki A, Pergament E, Homfray T, et al. Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities. Fetal Diagn Ther. 2014;35(3);174–184.
   PubMed Web of Science ®Google Scholar
• Benachi A, Letourneau A, Kleinfinger P, et al. Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination. Obstet Gynecol. 2015;125(6):1330–1337.
   PubMed Web of Science ®Google Scholar
• Shani H, Goldwaser T, Keating J, et al. Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center. Am J Obstet Gynecol. 2016;214(6):729.e1–729.e11.
   PubMed Web of Science ®Google Scholar
• Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol. 2014;124(5):979–986.
   PubMed Web of Science ®Google Scholar