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Review

Noninvasive prenatal screening for fetal sex chromosome aneuploidies

ORCID Icon, ORCID Icon & ORCID Icon
Pages 405-415 | Received 21 Nov 2020, Accepted 30 Mar 2021, Published online: 11 Apr 2021

References

  • Leggett V, Jacobs P, Nation K, et al. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol. 2010 Feb;52(2):119–129.
  • Bouchlariotou S, Tsikouras P, Dimitraki M, et al. Turner’s syndrome and pregnancy: has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med. 2011 May;24(5):668–672.
  • Simpson JL, De La Cruz F, Swerdloff RS, et al. Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genet Med. 2003 Nov-Dec;5(6):460–468.
  • Gropman A, Samango-Sprouse CA. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations. Am J Med Genet C Semin Med Genet. 2013 Feb 15;163c(1):35–43.
  • Ross JL, Kushner H, Kowal K, et al. Androgen treatment effects on motor function, cognition, and behavior in boys with klinefelter syndrome. J Pediatr. 2017 Jun;185:193–199.e4
  • Simpson NH, Addis L, Brandler WM, et al. Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia. Dev Med Child Neurol. 2013;56(4):346–353.
  • Ross JL, Zeger MPD, Kushner H, et al. An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Dev Disabilities Res Rev. 2009;15(4):309–317.
  • Aksglaede L, Skakkebaek NE, Juul A. Abnormal sex chromosome constitution and longitudinal growth: serum levels of Insulin-Like Growth Factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes. J Clin Endocrinol Metab. 2008;93(1):169–176.
  • Battaglia A, Doccini V, Bernardini L, et al. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol. 2013 Nov;17(6):589–599.
  • Ferreira JC, Grati FR, Bajaj K, et al. Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high-risk indications. Prenat Diagn. 2016 Dec;36(12):1146–1155.
  • Minear MA, Lewis C, Pradhan S, et al. Global perspectives on clinical adoption of NIPT. Prenat Diagn. 2015 Oct;35(10):959–967.
  • Wilson KL, Czerwinski JL, Hoskovec JM, et al. NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy. J Genet Couns. 2013 Feb;22(1):4–15.
  • No PB. 163: screening for Fetal Aneuploidy. Obstet Gynecol. 2016 May;127(5):e123–37.
  • Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American college of medical genetics and genomics. Genet Med. 2016; 18(10): 1056–1065.
  • Benn P, Borrell A, Chiu RW, et al. Position statement from the chromosome abnormality screening committee on behalf of the board of the international society for prenatal diagnosis. Prenat Diagn. 2015 Aug;35(8):725–734.
  • Committee on Genetics Society for Maternal–Fetal Medicine. Committee opinion no.640: cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31–e37.
  • Linden MG, Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110(1):3–10.
  • Pieters JJ, Kooper AJ, Van Kessel AG, et al. Incidental prenatal diagnosis of sex chromosome aneuploidies: health, behavior, and fertility. ISRN Obstet Gynecol. 2011;2011:807106.
  • Gravholt CH, Viuff MH, Brun S, et al. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019;15(10):601–614.
  • Cameron-Pimblett A, La RC, Tfj K, et al. The Turner syndrome life course project: karyotype-phenotype analyses across the lifespan. Clin Endocrinol (Oxf). 2017;87(5):532–538.
  • Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351(12):1227–1238.
  • Ross JL, Samango-Sprouse C, Lahlou N, et al. Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome. Horm Res. 2005;64(1):39–45.
  • Aksglaede L, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. Eur J Endocrinol. 2013;168(4):R67–76
  • Lanfranco F, Kamischke A, Zitzmann M, et al. Klinefelter’s syndrome. Lancet. 2004;364(9430):273–283.
  • Smyth CM, Bremner WJ. Klinefelter syndrome. Arch Intern Med. 1998 Jun 22;158(12):1309–1314.
  • Krausz C, Cioppi F, Riera-Escamilla A. Testing for genetic contributions to infertility: potential clinical impact. Expert Rev Mol Diagn. 2018;18(4):331–346.
  • Lalatta F, Tint GS. Counseling parents before prenatal diagnosis: do we need to say more about the sex chromosome aneuploidies? Am J Med Genet Part A. 2013;161(11):2873–2879.
  • Bishop D, Brookman-Byrne A, Gratton N, et al. Language phenotypes in children with sex chromosome trisomies. Wellcome Open Res. 2019;3:143.
  • Tartaglia NR, Howell S, Sutherland A, et al. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010 May 11;5:8
  • Wigby K, D’Epagnier C, Howell S, et al. Expanding the phenotype of Triple X syndrome: a comparison of prenatal versus postnatal diagnosis. Am J Med Genet A. 2016;170(11):2870–2881.
  • Van Rijn S, Stockmann L, Borghgraef M, et al. The social behavioral phenotype in boys and girls with an extra X chromosome (klinefelter syndrome and trisomy X): a comparison with autism spectrum disorder. J Autism Dev Disord. 2013;44(2):310–320.
  • Green T, Flash S, Reiss AL. Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies. Neuropsychopharmacology. 2018;44(1):9–21.
  • Sugawara N, Maeda M, Manome T, et al. Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports. Reprod Med Biol. 2013;12(4):193–195.
  • Rafique M, AlObaid S, Al-Jaroudi D. 47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries. Clin Case Rep. 2019;7(6):1238–1241.
  • Visootsak J, Graham JM Jr. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev. 2009;15(4):328–332.
  • Ross JL, Roeltgen DP, Kushner H, et al. Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics. 2012 Apr;129(4):769–778.
  • Faustina Lalatta EF, Cavallari U, Segni MD, et al. Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr. 2012 Oct 3;38:52
  • Joseph L, Farmer C, Chlebowski C, et al. Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome. J Neurodev Disord. 2018 Oct 22;10(1):30
  • Linden MG, Bender BG. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110(1):11–18.
  • Samango-Sprouse CA, Sadeghin T, Mitchell FL, et al. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age. Am J Med Genet A. 2013;161a(3):501–508.
  • Samango-Sprouse C, Stapleton EJ, Lawson P, et al. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):150–157.
  • Samango-Sprouse C, Lasutschinkow P, Powell S, et al. The incidence of anxiety symptoms in boys with 47,XXY (Klinefelter syndrome) and the possible impact of timing of diagnosis and hormonal replacement therapy. Am J Med Genet A. 2019 Mar;179(3):423–428.
  • Thompson T, Howell S, Davis S, et al. Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):414–427
  • Tartaglia N, Howell S, Davis S, et al. Early neurodevelopmental and medical profile in children with sex chromosome trisomies: background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention. Am J Med Genet Part C. 2020;184(2):428–443.
  • Samango‐Sprouse CA, Tran SL, Lasutschinkow PC, et al. Neurodevelopmental outcome of prenatally diagnosed boys with 47, XXY (Klinefelter syndrome) and the potential influence of early hormonal therapy. Am J Med Genet Part A. 2020;182(8):1881–1889.
  • Pieters JJ, Verhaak CM, Braat DD, et al. Experts’ opinions on the benefit of an incidental prenatal diagnosis of sex chromosomal aneuploidy: a qualitative interview survey. Prenat Diagn. 2012 Dec;32(12):1151–1157.
  • Jeon KC, Chen LS, Goodson P. Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature. Genet Med. 2012 Jan;14(1):27–38.
  • Viuff MH, Stochholm K, Uldbjerg N, 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.
  • Bevilacqua E, Ordonez E, Hurtado I, et al. Screening for sex chromosome aneuploidy by cell-free DNA testing: patient choice and performance. Fetal Diagn Ther. 2018;44(2):98–104.
  • Nuffield Council on Bioethics. Non‐invasive prenatal testing: ethical issues. 2017.
  • Bowman-Smart H, Savulescu J, Gyngell C, et al. Sex selection and non-invasive prenatal testing: a review of current practices, evidence, and ethical issues. Prenat Diagn. 2020 Mar;40(4):398–407.
  • Verma IC, Dua-Puri R, Bijarnia-Mahay S. ACMG 2016 update on noninvasive prenatal testing for fetal aneuploidy: implications for India. Journal of Fetal Medicine. 2017;4(1):1–6
  • Nuffield Council on Bioethics. Council comment on call for ban on using NIPT for sex determination. [cited 2018 Sep 18]. Available from: https://www.nuffieldbioethics.org/news/council-comment-call-ban-nipt-sex-determinatio. 2018.
  • Daley R, Hill M, Chitty LS. Non-invasive prenatal diagnosis: progress and potential. Arch Dis Child Fetal Neonatal Ed. 2014 Sep;99(5):F426–30.
  • Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16;350(9076):485–487.
  • 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.
  • Faas BH, De Ligt J, Janssen I, et al. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther. 2012 Jun;12(Suppl 1):S19–26.
  • Fan HC, Blumenfeld YJ, Chitkara U, et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266–16271.
  • Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008 Dec 23;105(51):20458–20463.
  • Lo YM, Chan KC, 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.
  • Lo YM. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing. Reprod Biomed Online. 2013 Dec;27(6):593–598.
  • Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn. 2012 Jan;32(1):3–9.
  • Norton ME, Brar H, Weiss J, et al. 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. 2012;207(2):137.e1-137.e8.
  • Sparks AB, Struble CA, Wang ET, et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9.
  • Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012 Dec;32(13):1233–1241.
  • Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism–based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstetrics Gynecol. 2014;124(2,PART 1):210–218.
  • Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013 Jun;33(6):575–579.
  • Srinivasan A, Bianchi DW, Huang H, et al. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 2013 Feb 7;92(2):167–176.
  • Lau TK, Cheung SW, Lo PS, et al. Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014 Mar;43(3):254–264.
  • Zhang J, Zhang B. Second-generation non-invasive high-throughput DNA sequencing technology in the screening of down’s syndrome in advanced maternal age women. Biomed Rep. 2016 Jun;4(6):715–718.
  • Nicolaides KH, Musci TJ, Struble CA, et al. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther. 2014;35(1):1–6.
  • Comas C, Echevarria M, Rodriguez MA, et al. Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. J Matern Fetal Neonatal Med. 2015 Jul;28(10):1196–1201.
  • Persico N, Boito S, Ischia B, et al. Cell-free DNA testing in the maternal blood in high-risk pregnancies after first-trimester combined screening. Prenat Diagn. 2016 Mar;36(3):232–236.
  • Song Y, Huang S, Zhou X, et al. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy. Ultrasound Obstet Gynecol. 2015 Jan;45(1):55–60.
  • Cherry AM, Akkari YM, Barr KM, et al. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2017; 19(8): 845–850.
  • 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 Sep;50(3):302–314.
  • Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics Gynecol. 2012;119(5):890–901.
  • Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913–920.
  • 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(3):249–266.
  • Porreco RP, Garite TJ, Maurel K, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014;211(4):365.e1-365.e12.
  • 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.
  • Nicolaides KH, Syngelaki A, Ashoor G, et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012;207(5):374.e1-374.e6.
  • Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: an international collaborative study. Genet Med. 2012;14(3):296–305.
  • 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(5):530–538.
  • Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med. 2015;372(17):1589–1597.
  • Bianchi DW, Parsa S, Bhatt S, et al. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol. 2015 Feb;125(2):375–382.
  • 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 Aug 10;306(6):627–636.
  • Liang D, Cram DS, Tan H, et al. Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes. Genet Med. 2019 Sep;21(9):1998–2006.
  • Byers HM, Neufeld-Kaiser W, Chang EY, et al. Discordant sex between fetal screening and postnatal phenotype requires evaluation. J Perinatol. 2019 Jan;39(1):28–33.
  • Hooks J, Wolfberg AJ, Wang ET, et al. Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn. 2014 May;34(5):496–499.
  • Hui L, Bianchi DW. Fetal fraction and noninvasive prenatal testing: what clinicians need to know. Prenat Diagn. 2020 Jan;40(2):155–163.
  • Song Y, Liu C, Qi H, et al. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn. 2013 Jul;33(7):700–706.
  • Pertile MD, Halks-Miller M, Flowers N, et al. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease. Sci Transl Med. 2017 Aug 30;9(405):eaan1240.
  • Kalousek DK, Dill FJ. Chromosomal mosaicism confined to the placenta in human conceptions. Science. 1983 Aug 12;221(4611):665–667.
  • Ledbetter DH, Zachary JM, Simpson JL, et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn. 1992 May;12(5):317–345.
  • Mazloom AR, Dzakula Z, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013 Jun;33(6):591–597.
  • Stover MW, Cowan J, Cross L, et al. Prenatal presentation of 49,XXXXY syndrome. Prenat Diagn. 2017 Nov;37(11):1176–1178.
  • Yao H, Jiang F, Hu H, et al. Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital. Ultrasound Obstetrics Gynecol. 2014;44(1):17–24.
  • 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 Apr;45(2):621–630.
  • Xie X, Tan W, Li F, et al. Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: report of five cases and systematic review of evidence. Mol Genet Genomic Med. 2020 Jul;8(7):e1297
  • Garshasbi M, Wang Y, Hantoosh Zadeh S, et al. Clinical application of cell-free DNA sequencing-based noninvasive prenatal testing for trisomies 21, 18, 13 and sex chromosome aneuploidy in a mixed-risk population in Iran. Fetal Diagn Ther. 2020;47(3):220–227
  • Zhou Q, Zhu Z-P, Zhang B, et al. Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results. Ann Transl Med. 2019;7(14):317.
  • Xu Y, Chen L, Liu Y, et al. Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy. Expert Rev Mol Diagn. 2019;19(6):537–542.
  • Xue Y, Zhao G, Li H, et al. Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies. Mol Cytogenet. 2019 Jun 20;12:29
  • Chen Y, Yu Q, Mao X, et al. Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features. Hum Genomics. 2019 Nov 29;13(1):60.
  • Deng C, Zhu Q, Liu S, et al. Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital. Sci Rep. 2019 May 23;9(1):7767.
  • Xu L, Huang H, Lin N, et al. Non-invasive cell-free fetal DNA testing: a multicenter follow-up study of 31515 singleton pregnancies in southeastern China. Ultrasound Obstet Gynecol. 2020 Feb;55(2):242–247
  • Agatisa PK, Mercer MB, Leek AC, et al. A first look at women’s perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes. Prenat Diagn. 2015 Jul;35(7):692–698.
  • Mennuti MT, Chandrasekaran S, Khalek N, et al. Cell-free DNA screening and sex chromosome aneuploidies. Prenat Diagn. 2015 Oct;35(10):980–985.
  • Gregg AR, Gross SJ, Best RG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013;15(5):395–398.
  • Reiss RE, Discenza M, Foster J, et al. Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous? Prenat Diagn. 2017;37(5):515–520.
  • Scibetta EW, Gaw SL, Rao RR, et al. Clinical accuracy of abnormal cell-free fetal DNA results for the sex chromosomes. Prenat Diagn. 2017 Dec;37(13):1291–1297.
  • Lau TK, Chan MK, Salome LPS, et al. Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women. J Matern Fetal Neonatal Med. 2012 Dec;25(12):2616–2619.
  • Ramdaney A, Hoskovec J, Harkenrider J, et al. Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): accuracy and patient decision-making. Prenat Diagn. 2018 Oct;38(11):841–848.
  • Dhamankar R, DiNonno W, Martin KA, et al. Fetal sex results of noninvasive prenatal testing and differences with ultrasonography. Obstet Gynecol. 2020 May;135(5):1198–1206.
  • Christian SM, Koehn D, Pillay R, et al. Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time. Prenat Diagn. 2000 Jan;20(1):37–40.
  • Shaffer BL, Caughey AB, Norton ME. Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn. 2006 Aug;26(8):667–671.
  • Ramdaney A, Hoskovec J, Harkenrider J, et al. Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): accuracy and patient decision-making. Prenat Diagn. 2018;38(11):841–848.
  • Song JP, Jiang YF, Gao TX, et al. Performance of non-invasive prenatal screening for sex chromosome aneuploidies and parental decision-making. Chin Med J (Engl). 2020 Jul 5;133(13):1617–1619.
  • Samango-Sprouse CA, Porter GF, Lasutschinkow PC, et al. Impact of early diagnosis and noninvasive prenatal testing (NIPT): knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs). Prenat Diagn. 2020 Mar;40(4):470–480.
  • Chan KC, Jiang P, Sun K, et al. Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends. Proc Natl Acad Sci U S A. 2016 Dec 13;113(50):E8159–e8168.
  • Sun K, Jiang P, Cheng SH, et al. Orientation-aware plasma cell-free DNA fragmentation analysis in open chromatin regions informs tissue of origin. Genome Res. 2019 Mar;29(3):418–427.
  • Gravholt CH, Tartaglia N, Disteche C. Sex chromosome aneuploidies in 2020-The state of care and research in the world. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):197–201.
  • Bianchi DW, Chiu RWK. Sequencing of Circulating Cell-free DNA during Pregnancy. N Engl J Med. 2018 Aug 2;379(5):464–473.
  • Skotko BG, Allyse MA, Bajaj K, et al. Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations. Genet Med. 2019 Oct;21(10):2285–2292.
  • Berglund A, Viuff MH, Skakkebæk A, et al. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. Orphanet J Rare Dis. 2019 Jan 14;14(1):16.

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