1,675
Views
31
CrossRef citations to date
0
Altmetric
Review

Next-generation sequencing and the impact on prenatal diagnosis

, &
Pages 689-699 | Received 19 Apr 2018, Accepted 25 Jun 2018, Published online: 18 Jul 2018

References

  • Beta J, Lesmes-Heredia C, Bedetti C, et al. Risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review of the literature. Minerva Ginecol. 2017 Nov.70(2):215-221.
  • Lo YMD, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug;350(9076):485–487.
  • Wang E, Batey A, Struble C, et al. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013 Jul;33(7):662–666.
  • Kinnings SL, Geis JA, Almasri E, et al. Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing. Prenat Diagn. 2015 Aug;35(8):816–822.
  • Chitty LS, Lo YMD. Noninvasive prenatal screening for genetic diseases using massively parallel sequencing of maternal plasma DNA. Cold Spring Harb Perspect Med. 2015 Sep;5(9):a023085.
  • Hill M, Finning K, Martin P, et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet. 2011 Jul;80(1):68–75.
  • van der Schoot CE, de Haas M, Clausen FB. Genotyping to prevent Rh disease. Curr Opin Hematol. 2017 Nov;24(6):544–550.
  • Tsui NBY, Kadir RA, Chan KCA, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood. 2011 Mar 31;117(13):3684–3691.
  • Devaney SA, Palomaki GE, Scott JA, et al. Noninvasive fetal sex determination using cell-free fetal DNA. JAMA. 2011 Aug 10;306(6):627-636.
  • Tardy-Guidollet V, Menassa R, Costa J-M, et al. New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002–2011). J Clin Endocrinol Metab. 2014 Apr;99(4):1180–1188.
  • Peffer ME, Zhang JY, Umfrey L, et al. Minireview: the impact of antenatal therapeutic synthetic glucocorticoids on the developing fetal brain. Mol Endocrinol. 2015 May;29(5):658–666.
  • Jenkins LA, Deans ZC, Lewis C, et al. Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice. Prenat Diagn. 2018 Jan 20;38(1):44–51.
  • Hill M, Twiss P, Verhoef TI, et al. Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis. Prenat Diagn. 2015 Oct;35(10):950–958.
  • González-González MC, García-Hoyos M, Trujillo MJ, et al. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat Diagn. 2002 Oct;22(10):946–948.
  • Li Y, Di Naro E, Vitucci A, et al. Detection of paternally inherited fetal point mutations for β-thalassemia using size-fractionated cell-free DNA in maternal plasma. J Am Med Assoc. 2005 Feb 16;293(7):843–849.
  • Chitty LS, Khalil A, Barrett AN, et al. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn. 2013 May;33(5):416–423.
  • Chitty LS, Mason S, Barrett AN, et al. Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn. 2015 Jul;35(7):656–662.
  • Xiong L, Barrett AN, Hua R, et al. Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing. Prenat Diagn. 2015 Mar;35(3):258–265.
  • Hayward J, Chitty LS. Beyond screening for chromosomal abnormalities: advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Semin Fetal Neonatal Med. 2018 Apr;23(2):94-101.
  • Perlado S, Bustamante-Aragonés A, Donas M, et al. Fetal genotyping in maternal blood by digital PCR: towards NIPD of monogenic disorders independently of parental origin. PLoS One. 2016 Apr 14;11(4):e0153258. Brusgaard K, editor.
  • Lun FMF, Tsui NBY, Chan KCA, et al. Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma. Proc Natl Acad Sci. 2008 Dec 16;105(50):19920–19925.
  • Lo YMD, Chan KCA, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med. 2010 Dec 8;2(61):61ra91–61ra91.
  • Hartwig TS, Ambye L, Sørensen S, et al. Discordant non-invasive prenatal testing (NIPT) - a systematic review. Prenat Diagn. 2017 Jun;37(6):527–539.
  • Lewis C, Hill M, Chitty LS. Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet. 2014 Apr;85(4):336–342.
  • Verhoef TI, Hill M, Drury S, et al. Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways. Prenat Diagn. 2016;36(7):636–642.
  • Parks M, Court S, Cleary S, et al. Non-invasive prenatal diagnosis of duchenne and becker muscular dystrophies by relative haplotype dosage. Prenat Diagn. 2016 Apr;36(4):312–320.
  • Parks M, Court S, Bowns B, et al. Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage. Eur J Hum Genet. 2017 Apr 25;25(4):416–422.
  • White HE, Dent CL, Hall VJ, et al. Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLoS One. 2012 Sep 14;7(9):e45073. Oudejans C, editor.
  • Jiang P, Lo YMD. The long and short of circulating cell-free DNA and the ins and outs of molecular diagnostics. Trends Genet. 2016 Jun;32(6):360–371.
  • Alberry M, Maddocks D, Jones M, et al. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn. 2007 May;27(5):415–418.
  • Chiu EKL, Hui WWI, Chiu RWK. cfDNA screening and diagnosis of monogenic disorders - where are we heading? Prenat Diagn. 2018 Jan 24;38(1):52-58.
  • Hill M, Compton C, Karunaratna M, et al. Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. J Genet Couns. 2014 Dec;23(6):1012–1021.
  • Hill M, Karunaratna M, Lewis C, et al. Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet Part A. 2013 Jul;161(7):1612–1618.
  • Hill M, Barrett A, Choolani M, et al. Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome? Prenat Diagn. 2017 Dec;37(13):1281–1290.
  • Skirton H, Goldsmith L, Jackson L, et al. Offering prenatal diagnostic tests: European guidelines for clinical practice. Eur J Hum Genet. 2014 May 11;22(5):580–586.
  • Barrett AN, Zimmermann BG, Wang D, et al. Implementing prenatal diagnosis based on cell-free fetal DNA: accurate Identification of factors affecting fetal DNA yield. PLoS One. 2011 Oct 4;6(10):e25202. Novelli G, editor.
  • Wilkie AOM, Goriely A. Gonadal mosaicism and non-invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders. Prenat Diagn. 2017 Sep;37(9):946–948.
  • Best S, Wou K, Vora N, et al. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn. 2018 Jan;38(1):10-19.
  • Chandler N, Best S, Hayward J, et al. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management. Genet Med. 2018 Mar 29.
  • Drury S, Williams H, Trump N, et al. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenat Diagn. 2015 Oct;35(10):1010–1017.
  • Wapner R, Petrovski S, Brennan K, et al. 8: Whole exome sequencing in the evaluation of fetal structural anomalies: a prospective study of sequential patients. Am J Obstet Gynecol. 2017 Jan;216(1):S5–6.
  • Chitty L, Lord J, Rinck G, et al. Which fetuses benefit most from exome sequencing? Interim results from the Prenatal Assessment of Genomes and Exomes (PAGE) study. Prenatal Diagnosis. 2017;37(suppl 1):3.
  • Westgren M, Götherström C. Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta? Prenat Diagn. 2015 Sep;35(9):827–832.
  • Chitty LS, David AL, Gottschalk I, et al. EP21.04: BOOSTB4: a clinical study to determine safety and efficacy of pre- and/or postnatal stem cell transplantation for treatment of osteogenesis imperfecta. Ultrasound Obstet Gynecol. 2016;48:356.
  • Arzt W, Tulzer G. Fetal surgery for cardiac lesions. Prenat Diagn. 2011 Jul;31(7):695–698.
  • Jani JC, Nicolaides KH, Gratacós E, et al. Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 2009 Sep;34(3):304–310.
  • Seravalli V, Jelin EB, Miller JL, et al. Fetoscopic tracheal occlusion for treatment of non-isolated congenital diaphragmatic hernia. Prenat Diagn. 2017 Oct;37(10):1046–1049.
  • Zhang Y, Lin S, Fang Q. Prenatal diagnosis of Sotos syndrome characterized by fetal growth restriction. Int J Gynecol Obstet. 2017 Nov;139(2):248–250.
  • ISPD, SMFM, PQF. Joint Position Statement from the International Society of Prenatal Diagnosis (ISPD), the Society of Maternal Fetal Medicine (SMFM) and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis. Prenat Diagn. 2018 Jan;8(38):6–9.
  • Abou Tayoun AN, Spinner NB, Rehm HL, et al. Prenatal DNA sequencing: clinical, counseling, and diagnostic laboratory considerations. Prenat Diagn. 2018 Jan;38(1):26–32.
  • Mesens T, Witters I, Van Robaeys J, et al. Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings. Genet Couns. 2013;24(4):367–371.
  • Schmidts M, Arts HH, Bongers EMHF, et al. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet. 2013 May;50(5):309–323.
  • Quinlan-Jones E, Hillman SC, Kilby MD, et al. Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly. Prenat Diagn. 2017 Dec;37(12):1225–1231.
  • Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15(7):565–574.
  • Yurkiewicz IR, Korf BR, Lehmann LS. Prenatal whole-genome sequencing: is the quest to know a fetus’s future ethical? Obstet Gynecol Surv. 2014 Apr;69(4):197–199.
  • Ross LF, Saal HM, David KL, et al. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med. 2013 Mar 21;15(3):234–245.
  • Borry P, Evers-Kiebooms G, Cornel MC, et al. Genetic testing in asymptomatic minors. Eur J Hum Genet. 2009 Jun 11;17(6):711–719.
  • Horn R, Parker M. Opening Pandora’s box? Ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn. 2017;38:20-25.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May 5;17(5):405–423.
  • Quinlan-Jones E, Kilby MD, Greenfield S, et al. Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives. Prenat Diagn. 2016 Oct;36(10):935–941.
  • Westerfield L, Darilek S, van den Veyver I. Counseling challenges with variants of uncertain significance and incidental findings in prenatal genetic screening and diagnosis. J Clin Med. 2014 Sep 12;3(4):1018–1032.
  • Kalynchuk EJ, Althouse A, Parker LS, et al. Prenatal whole-exome sequencing: parental attitudes. Prenat Diagn. 2015 Oct;35(10):1030–1036.
  • Bayefsky MJ, White A, Wakim P, et al. Views of American OB/GYNs on the ethics of prenatal whole-genome sequencing. Prenat Diagn. 2016 Dec;36(13):1250–1256.
  • Vora NL, Powell B, Brandt A, et al. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. Genet Med. 2017 Nov 18;19(11):1207–1216.
  • Sabatini LM, Mathews C, Ptak D, et al. Genomic sequencing procedure microcosting analysis and health economic cost-impact analysis. J Mol Diagnostics. 2016 May;18(3):319–328.
  • Kitzman JO, Snyder MW, Ventura M, et al. Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med. 2012 Jun 6;4(137):137ra76–137ra76.
  • Breman AM, Chow JC, U’Ren L, et al. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing. Prenat Diagn. 2016 Nov;36(11):1009–1019.
  • Vestergaard EM, Singh R, Schelde P, et al. On the road to replacing invasive testing with cell-based NIPT: five clinical cases with aneuploidies, microduplication, unbalanced structural rearrangement, or mosaicism. Prenat Diagn. 2017 Nov;37(11):1120–1124.
  • Zhang C, Zhang C, Chen S, et al. A single cell level based method for copy number variation analysis by low coverage massively parallel sequencing. PLoS One. 2013 Jan 23;8(1):e54236. Zwick ME, editor.
  • Chen F, Liu P, Gu Y, et al. Isolation and whole genome sequencing of fetal cells from maternal blood towards the ultimate non-invasive prenatal testing. Prenat Diagn. 2017 Dec;37(13):1311–1321.
  • Pfeifer I, Benachi A, Saker A, et al. Cervical trophoblasts for non-invasive single-cell genotyping and prenatal diagnosis. Placenta. 2016;37:56–60.
  • Hui WWI, Jiang P, Tong YK, et al. Universal haplotype-based noninvasive prenatal testing for single gene diseases. Clin Chem. 2017 Feb;63(2):513–524.
  • Hui WWI, Chiu RWK. Noninvasive prenatal testing beyond genomic analysis. Curr Opin Obstet Gynecol. 2016 Apr;28(2):105–110.
  • Sun K, Lun FMF, Leung TY, et al. Noninvasive reconstruction of placental methylome from maternal plasma DNA: potential for prenatal testing and monitoring. Prenat Diagn. 2018 Feb;38(3):196–203.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.