418
Views
3
CrossRef citations to date
0
Altmetric
Review

The importance of pre- and post-test counseling for prenatal cell-free DNA screening for common fetal aneuploidies

ORCID Icon
Pages 201-215 | Received 26 Jun 2018, Accepted 16 Jan 2019, Published online: 07 Feb 2019

References

  • Allyse M, Minear MA, Berson E, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health. 2015;7:113–126.
  • Minear MA, Lewis C, Pradhan S, et al. Global perspectives on clinical adoption of NIPT. Prenat Diagn. 2015;35(10):959–967.
  • Gil MM, Accurti V, Santacruz B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302–314.
  • 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;33:662–666.
  • Iwarsson E, Jacobsson B, Dagerhamn J, et al. Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2017;96(1):7–18.
  • Walker BS, Nelson RE, Jackson BR, et al. A cost-effectiveness analysis of first trimester non-invasive prenatal screening for fetal trisomies in the United States. PLoS One. 2015;10(7):e0131402.
  • Teitelbaum L, Metcalfe A, Clarke G, et al. Costs and benefits of non-invasive fetal RhD determination. Ultrasound Obstet Gynecol. 2015;45:84–88.
  • Sahoo T, Hovanes K, Strecker MN, et al. Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern? Letter to the Editor. Genet Med. 2016;18(3):275–276.
  • Shaffer BL, Norton ME. Cell-free DNA screening for aneuploidy and microdeletion syndromes. Obstet Gynecol Clin North Am. 2018;45(1):13–26.
  • Rose NC, Benn P, Milunsky A. Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications? Prenat Diagn. 2016;36:10–14.
  • Valderramos SG, Rao RR, Scibetta EW, et al. Cell-free DNA screening in clinical practice: abnormal autosomal aneuploidy and microdeletion results. Am J Obstet Gynecol. 2016;215(5):626.e1–626.e10.
  • Monni G, Iuculano A, Zoppi MA. Screening and invasive testing in twins. J Clin Med. 2014;3(3):865–882.
  • Liao H, Liu S, Wang H. Performance of non-invasive prenatal screening for fetal aneuploidy in twin pregnancies: a meta-analysis. Prenat Diagn. 2017;37(9):874–882.
  • Committee on Genetics, Society for Maternal-Fetal Medicine. Cell-free DNA screening for fetal aneuploidy. Committee Opinion nro 640; 2015 Sept. (reaffirmed 2017).
  • Gregg AR, Skotko BG, Benkendorf JL, et al., on behalf of the ACMG Noninvasive Prenatal Screening Work Group. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18:1056–1065.
  • Van Opstal D, Srebniak MI, Polak J, et al. False negative NIPT results: risk figures for chromosomes 13, 18 and 21 based on chorionic villi results in 5967 cases and literature review. PLoS One. 2016;11(1):e0146794.
  • Lindquist A, Poulton A, Halliday J, et al. Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing. Ultrasound Obstet Gynecol. 2018;51(4):487–492.
  • Petersen OB, Vogel I, Ekelund C, et al., Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. . Ultrasound Obstet Gynecol. 2014;43(3):265–271.
  • Hartwig TS, Ambye L, Sørensen S, et al. Discordant non-invasive prenatal testing (NIPT) – a systematic review. Prenat Diagn. 2017;37(6):527–539.
  • Reimers RM, Mason-Suares H, Little SE, et al. When ultrasound anomalies are present: an estimation of the frequency of chromosome abnormalities not detected by cell-free DNA aneuploidy screens. Prenat Diagn. 2018;38(4):250–257.
  • Vogel I, Petersen OB, Christensen R, et al. Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program. Ultrasound Obstet Gynecol. 2018;51(4):480–486.
  • Lund IC, Christensen R, Petersen OB, et al. Chromosomal microarray in fetuses with increased nuchal translucency. Ultrasound Obstet Gynecol. 2015;45(1):95–100.
  • Srebniak MI, Joosten M, Knapen MFCM, et al. Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2018;51(4):445–452.
  • Christiansen M, Ekelund CK, Petersen OB, et al. Nuchal translucency distributions for different chromosomal anomalies in a large unselected population cohort. Prenat Diagn. 2016;36(1):49–55.
  • Colosi E, Musone R, Filardi G, et al. First trimester fetal anatomy study and identification of major anomalies using 10 standardized scans. J Prenat Med. 2015;9(3–4):24–28.
  • Stefanovic V, Äyräs O, Eronen M, et al. Clinical utility of nuchal translucency screening. Res Rep Neonatol. 2014;4:169–176.
  • Äyräs O, Tikkanen M, Eronen M, et al. Increased nuchal translucency and pregnancy outcome: a retrospective study of 1063 consecutive singleton pregnancies in a single referral institution. Prenat Diagn. 2013;33:856–862.
  • Winter TC, Rose NC. How to integrate cell-free DNA screening with sonographic markers for aneuploidy: an update. AJR Am J Roentgenol. 2018;210(4):906–912.
  • Stefanovic V. Soft markers for aneuploidy following reassuring first trimester screening: what should be done? Curr Opin Obstet Gynecol. 2015;27(2):151–158.
  • Van Opstal D, Srebniak MI. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev Mol Diagn. 2016;16(5):513–520.
  • Grati FR. Implications of fetoplacental mosaicism on cell‐free DNA testing: a review of a common biological phenomenon. Ultrasound Obstet Gynecol. 2016;48(4):415–423.
  • Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014;211(5):527.e1–527.e17.
  • Lutgendorf MA, Stoll KA. Why 99% may not be as good as you think it is: limitations of screening for rare diseases. J Matern Fetal Neonatal Med. 2016;29(7):1187–1189.
  • Stoll K, Kubendran S, Cohen SA. The past, present and future of service delivery in genetic counseling: keeping up in the era of precision medicine. Am J Med Genet C Semin Med Genet. 2018;178(1):24–37.
  • Ormond KE, Laurino MY, Barlow‐Stewart K, et al. Genetic counseling globally: where are we now? Am J Med Genet. 2018;178(1):98–107.
  • Hoskovec JM, Bennett RL, Carey ME, et al. Projecting the supply and demand for certified genetic counselors: a workforce study. J Genet Couns. 2018;27(1):16–20.
  • Martin L, Gitsels-van der Wal JT, de Boer MA, et al. Introduction of non-invasive prenatal testing as a first-tier aneuploidy screening test: A survey among Dutch midwives about their role as counsellors. Midwifery. 2018;56:1–8.
  • Oxenford K, Daley R, Lewis C, et al. Development and evaluation of training resources to prepare health professionals for counselling pregnant women about non-invasive prenatal testing for Down syndrome: a mixed methods study. BMC Pregnancy Childbirth. 2017;17(1):132.
  • Colicchia LC, Holland CL, Tarr JA, et al. Patient–health care provider conversations about prenatal genetic screening: recommendation or personal choice. Obstet Gynecol. 2016;127(6):1145–1152.
  • Gammon BL, Otto L, Wick M, et al. Implementing group prenatal counseling for expanded noninvasive screening options. J Genet Couns. 2017 Dec 15. [Epub ahead of print]. DOI:10.1007/s10897-017-0178-4.
  • Lu J, Saller DN, Fraer LM, et al. Investigating Pregnancy Outcomes After Abnormal Cell‐Free DNA Test Results. J Genet Counsel. 2018. DOI:10.1007/s10897-018-0219-7
  • Chitty LS, Wright D, Hill M, et al. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ. 2016;354:i3426.
  • 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;37(13):1281–1290.
  • Farrell RM, Agatisa PK, Mercer MB, et al. The use of noninvasive prenatal testing in obstetric care: educational resources, practice patterns, and barriers reported by a national sample of clinicians. Prenat Diagn. 2016;36(6):499–506.
  • Wald NJ, Huttly WJ, Bestwick JP, et al. Prenatal reflex DNA screening for trisomies 21, 18, and 13. Genet Med. 2017 Nov 9. Epub ahead of print. DOI:10.1038/gim.2017.188.
  • Wald NJ. Prenatal reflex DNA screening for trisomy 21, 18 and 13. Expert Rev Mol Diagn. 2018;18(5):399–401.
  • Palomaki GE, Eklund EE, Neveux LM, et al. Evaluating first trimester maternal serum screening combinations for Down syndrome suitablefor use with reflexive secondary screening via sequencing of cell freeDNA: high detection with low rates of invasive procedures. Prenat Diagn. 2015;35:789–796.
  • Wald NJ, Bestwick JP. Prenatal reflex DNA screening for Down syndrome: enhancing the screening performance of the initial first trimester test. Prenat Diagn. 2016 Apr;36(4):328–331.
  • Bevilacqua E, Gil MM, Nicolaides KH, et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet Gynecol. 2015;45(1):61–66.
  • Oepkes D, Yaron Y, Kozlowski P, et al. Counseling for non-invasive prenatal testing (NIPT): what pregnant women may want to know. Ultrasound Obstet Gynecol. 2014;44(1):1–5.
  • Sachs A, Blanchard L, Buchanan A, et al. Recommended pre-test counseling points for noninvasive prenatal testing using cell-free DNA: a 2015 perspective. Prenat Diagn. 2015;35(10):968–971.
  • Grömminger S, Erkan S, Schöck S, et al. The influence of low molecular weight heparin medication on plasma DNA in pregnant women. Prenat Diagn. 2015;35(11):1155–1157.
  • Yaron Y. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon. Prenat Diagn. 2016;36(5):391–396.
  • Benn P, Valenti E, Shah S, et al. Factors associated with informative redraw after an initial no result in noninvasive prenatal testing. Obstet Gynecol. 2018;132(2):428–435.
  • Walker BS, Jackson BR, LaGrave D, et al. A cost-effectiveness analysis of cell free DNA as a replacement for serum screening for Down syndrome. Prenat Diagn. 2015;35(5):440–446.
  • Fairbrother G, Burigo J, Sharon T, et al. Prenatal screening for fetal aneuploidies with cell-free DNA in the general pregnancy population: a cost-effectiveness analysis. J Matern Fetal Neonatal Med. 2016;29(7):1160–1164.
  • Sparks TN, Caughey AB. How should costs and cost-effectiveness be considered in prenatal genetic testing? Semin Perinatol. 2018;42(5):275–282.
  • Manzanares S, Benítez A, Naveiro-Fuentes M, et al. Accuracy of fetal sex determination on ultrasound examination in the first trimester of pregnancy. J Clin Ultrasound. 2016;44(5):272–277.
  • Larsson M, Berglund M, Jarl E, et al. Do pregnant women want to know the sex of the expected child at routine ultrasound and are they interested in sex selection? Ups J Med Sci. 2017;122(4):254–259.
  • Hall S, Reid E, Marteau TM. Attitudes towards sex selection for non‐medical reasons: a review. Prenat Diagn. 2006;26(7):619–626.
  • Tsui NBY, Kadir RA, Chan KCA. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood. 2011;117(13):3684–3691.
  • Kadir RA, Davies J, Winikoff R. Pregnancy complications and obstetric care in women with inherited bleeding disorders. Haemophilia. 2013;19(Suppl. 4):1–10.
  • Primacio R, Milot H, Jacob C. Early fetal sex determination using cell-free DNA in micro-volume of maternal plasma. J Preg Child Health. 2017;4:6.
  • Bianchi DW. At-home fetal DNA gender testing. Obstet Gynecol. 2006;107(2,pt1):216–218.
  • Javitt GH. Pink or blue? The need for regulation is black and white. Fertil Steril. 2006;86(1):13–15.
  • Devaney SA, Palomaki GE, Scott JA, et al. Noninvasive fetal sex determination using cell-free fetal DNA: A systematic review and meta-analysis. JAMA. 2011;306(6):627–636.
  • Boyd PA, Loane M, Garne E, et al. EUROCAT working group. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet. 2011;19(2):231–234.
  • Zhang B, Lu BY, Yu B, et al. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood. J Int Med Res. 2017;45(2):621–630.
  • The Danish Fetal Medicine Study Group, Viuff MH, Stockholm K, et al. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome. Hum Reprod 2015;30(10):2419–2426.
  • Scibetta EW, Gaw SL, Rao RR, et al. Clinical accuracy of abnormal cell-free fetal DNA results for the sex chromosomes. Prenat Diagn. 2017;37(13):1291–1297.
  • Mezei G, Papp C, Tóth-Pál E, et al. Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Obstet Gynecol. 2004;104(1):94–101.
  • Mennuti MT, Chandrasekaran S, Khalek N, et al. Cell-free DNA screening and sex chromosome aneuploidies. Prenat Diagn. 2015;35(10):980–985.
  • Chapman AR, Benn PA. Noninvasive prenatal testing for early sex identification: a few benefits and many concerns. Perspect Biol Med. 2013;56(4):530–547.
  • Richardson EJ, Scott FP, McLennan AC. Sex discordance identification following non-invasive prenatal testing. Prenat Diagn. 2017;37(13):1298–1304.
  • Iruretagoyena JI, Grady M, Shah D. Discrepancy in fetal sex assignment between cell free fetal DNA and ultrasound. J Perinatol. 2015;35(3):229–230.
  • Srebniak MI, Diderich KE, Noomen P, et al. Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype. Ultrasound Obstet Gynecol. 2014;44(1):109–111.
  • Balslev-Harder M, Jørgensen FS, Kjaergaard S, et al. The length of Y-chromosomal sequence reads in noninvasive prenatal testing reflect allogeneic bone marrow transplant. Prenat Diagn. 2017;37(8):843–845.
  • Zilberman D, Parikh LI, Skinner M, et al. Prenatal diagnosis of androgen insensitivity syndrome using cell-free fetal DNA testing. Letter to the Editor. Ultrasound Obstet Gynecol. 2015;45(1):114–115.
  • Franasiak JM, Yao X, Ashkinadze E, et al. Discordant embryonic aneuploidy testing and prenatal ultrasonography prompting androgen insensitivity syndrome diagnosis. Obstet Gynecol. 2015;125(2):383–386.
  • Neofytou M, Brison N, Van Den Bogaert K, et al. Maternal liver transplant: another cause of discordant fetal sex determination using cell-free DNA. Prenat Diagn. 2018;38(2):148–150.
  • Mansfield N, Boogert T, McLennan A. Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing. Clin Case Rep. 2015;3(10):849–853.
  • Adam MP, Fechner PY, Ramsdell LA, et al. Ambiguous genitalia: what prenatal genetic testing is practical? Am J Med Genet A. 2012;158A(6):1337–1343.
  • Chen A, Tenhunen H, Torkki P, et al. Women’s choices for invasive or non-invasive testing: influence of gestational age and service delivery. Prenat Diagn. 2016;36(13):1217–1224.
  • Nicolaides KH, Chervenak FA, McCullough LB, et al. Evidence-based obstetric ethics and informed decision-making by pregnant women about invasive diagnosis after first-trimester assessment of risk for trisomy 21. Am J Obstet Gynecol. 2005;193(2):322–326.
  • Chen A, Tenhunen H, Torkki P, et al. Considering medical risk information and communicating values: A mixed-method study of women’s choice in prenatal testing. PLoS One. 2017;12(3):e0173669.
  • Chen A, Lillrank PM, Tenhunen H, et al. Context-based patient choice management in healthcare. Int J Health Care Qual Assur. 2018;31(1):52–68.
  • Bay Lund IC, Becher N, Petersen OB, et al. Preferences for prenatal testing among pregnant women, partners and health professionals. Dan Med J. 2018;65(5):A5486.
  • Beulen L, Grutters JPC, Faas BHW, et al. Women’s and healthcare professionals’ preferences for prenatal testing: a discrete choice experiment. Prenat Diagn. 2015;35:549–557.
  • Van Schendel RV, Kleinveld JH, Dondorp WJ, et al. Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening. Eur J Hum Genet. 2014;22(12):1345–1350.
  • Verweij EJ, Oepkes D, de Boer MA. Changing attitudes towards termination of pregnancy for trisomy 21 with non‐invasive prenatal trisomy testing: a population‐based study in Dutch pregnant women. Research Letter Prenat Diagn. 2013;33(4):397–399.
  • Chen A, Tenhunen H, Torkki P, et al. Facilitating autonomous, confident and satisfying choices: a mixed-method study of women’s choice-making in prenatal screening for common aneuploidies. BMC Pregnancy Childbirth. 2018;18(119):13.
  • Kosec V, Zec I, Tislarić-Medenjak D, et al. Pregnant women’s knowledge and attitudes to prenatal screening for fetal chromosomal abnormalities: croatian multicentric survey. Coll Antropol. 2013;37(2):483–489.
  • Norton M. Noninvasive prenatal testing to analyze the fetal genome. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):14173–14175.
  • Lefkowitz RB, Tynan JA, Liu T, et al. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants. Am J Obstet Gynecol. 2016 Aug;215(2):227.e1-227.e16.
  • Scheffer P, van der Schoot C, Page‐Christiaens G, et al. Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7‐year clinical experience. Bjog. 2011;118:1340–1348.
  • Borrell A, Stergiotou I. Cell-free DNA testing: inadequate implementation of an outstanding technique. Opinion. Ultrasound Obstet Gynecol. 2015;45:508–511.
  • Warsof SL, Larion S, Abuhamad AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn. 2015;35:972–979.
  • de Wert G, Dondorp W, Bianchi DW. Fetal therapy for Down syndrome: an ethical exploration. Prenat Diagn. 2017 Mar;37(3):222–228.
  • Guedj F, Bianchi DW, Delabar JM. Prenatal treatment of Down syndrome: a reality? Curr Opin Obstet Gynecol. 2014 Apr;26(2):92–103.
  • Dan S, Yuan Y, Wang Y. Non-invasive prenatal diagnosis of lethal skeletal dysplasia by targeted capture sequencing of maternal plasma. PLoS One. 2016;11(7):e0159355.
  • Götherström C, Westgren M, Shaw SW. Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience. Stem Cells Transl Med. 2014 Feb;3(2):255–264.
  • Thurik FF, Lamain-de Ruiter M, Javadi A, et al. Absolute first trimester cell-free DNA levels and their associations with adverse pregnancy outcomes. Prenat Diagn. 2016 Dec;36(12):1104–1111.
  • van Boeckel SR, Davidson DJ, Normn JE, et al. Cell-free fetal DNA and spontaneous preterm birth. Reproduction. 2018;155:R137–R145.
  • Dharajiya NG, Grosu DS, Farkas DH, et al. Incidental detection of maternal neoplasia in noninvasive prenatal testing. Clin Chem. 2018 Feb;64(2):329–335.

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.