Clinical article: screening for trisomy 13 using traditional combined screening versus an ultrasound-based protocol

References

• Chen CP. Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III). Taiwan J Obstet Gynecol. 2009;48:342–349.
   PubMed Web of Science ®Google Scholar
• Tonks AM , Gornall AS , Larkins SA , et al. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis – population based study. Prenat Diagn. 2013;33:742–750.
   PubMed Web of Science ®Google Scholar
• Čulić V , Polić B , Mišković S , et al. Patau syndrome. Paediatr Croat. 2016;60:27–30.
   Google Scholar
• Spencer K , Ong C , Skentou H , et al. Screening for trisomy 13 by fetal nuchal translucency and maternal serum free beta-hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn. 2000;20:411–416.
   PubMed Web of Science ®Google Scholar
• Bestwick JP , Huttly WJ , Wald NJ. Detection of trisomy 18 and trisomy 13 using first and second trimester Down’s syndrome screening markers. J Med Screen. 2013;20:57–65.
   PubMed Web of Science ®Google Scholar
• Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31:7–15.
   PubMed Web of Science ®Google Scholar
• Ashoor G , Syngelaki A , Wang E , et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013;41:21–25.
   PubMed Web of Science ®Google Scholar
• Gil MM , Quezada MS , Revello R , et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2015;45:249–266.
   PubMed Web of Science ®Google Scholar
• Everett TR , Chitty LS. Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol. 2015;45:499–507.
   PubMed Web of Science ®Google Scholar
• Zhang H , Gao Y , Jiang F , et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol. 2015;45:530–538.
   PubMed Web of Science ®Google Scholar
• Benacerraf B. Ultrasound of Foetal Syndromes. 2nd ed. Philadelphia: Churchill Livingstone, Elsevier; 2008. p. 483–496.
   Google Scholar
• Sepulveda W , Wong AE. First trimester screening for holoprosencephaly with choroid plexus morphology butterfly. Prenat Diagn. 2013;33:1233–1237.
   PubMed Web of Science ®Google Scholar
• Rembouskos G , Cicero S , Longo D , et al. Single umbilical artery at 11–14 weeks’ gestation: relation to chromosomal defects. Ultrasound Obstet Gynecol. 2003;22:567–570.
   PubMed Web of Science ®Google Scholar
• Fatima AFA , Syngelaki A , Smolin A , et al. Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation. Prenat Diagn. 2012;32:854–858.
   PubMed Web of Science ®Google Scholar
• Szigeti Z , Csapó Z , Joó JG , et al. Correlation of prenatal ultrasound diagnosis and pathologic findings in fetuses with trisomy 13. Prenat Diagn. 2006;26:1262–1266.
   PubMed Web of Science ®Google Scholar
• Wiechec M , Knafel A , Nocun A , et al. Screening for trisomy 18 using traditional combined screening vs. ultrasound-based protocol in tertiary center environment. J Matern Fetal Neonatal Med. 2017;30:1765–1770.
   PubMed Web of Science ®Google Scholar
• Kagan KO , Wright D , Valencia C , et al. Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. Hum Reprod. 2008;23:1968–1975.
   PubMed Web of Science ®Google Scholar
• Abele H , Wagner P , Sonek J , et al. First trimester ultrasound screening for Down syndrome based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow. Prenat Diagn. 2015;35:1182–1186.
   PubMed Web of Science ®Google Scholar
• Wiechec M , Nocun A , Knafel A , et al. Combined screening test for trisomy 21 - is it as efficient as we believe? J Perinat Med. 2017;45:185–191.
   PubMed Web of Science ®Google Scholar
• Cicero S , Longo D , Rembouskos G , et al. Absent nasal bone at 11–14 weeks of gestation and chromosomal defects. Ultrasound Obstet Gynecol. 2003;22:31–35.
   PubMed Web of Science ®Google Scholar
• Faiola S , Tsoi E , Huggon IC , et al. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Ultrasound Obstet Gynecol. 2005;26:22–27.
   PubMed Web of Science ®Google Scholar
• Maiz N , Valencia C , Kagan KO , et al. Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol. 2009;33:512–517.
   PubMed Web of Science ®Google Scholar
• Liao AW , Snijders R , Geerts L , et al. Fetal heart rate in chromosomally abnormal fetuses. Ultrasound Obstet Gynecol. 2000;16:610–613.
   PubMed Web of Science ®Google Scholar
• Létard P , Guimiot F , Dupont C , et al. Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. Am J Med Genet. 2018;176:2325–2330.
   PubMed Web of Science ®Google Scholar
• Springett A , Wellesley D , Greenlees R , et al. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000–2011. Am J Med Genet. 2015;167A:3062–3069.
   PubMed Web of Science ®Google Scholar