Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy

References

• Visootsak J, Graham JM Jr. Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabilities Res Rev. 2009;15(4):328–332.
   PubMed Web of Science ®Google Scholar
• Hong DS, Reiss AL. Cognitive and neurological aspects of sex chromosome aneuploidies. Lancet Neurol. 2014;13(3):306–318.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMedGoogle Scholar
• Bianchi DW, Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road? Clin Chem. 2014 Jan;60(1):78–87.
   PubMed Web of Science ®Google Scholar
• Zhang R, Zhang H, Li Y, et al. External quality assessment for detection of fetal trisomy 21, 18, and 13 by massively parallel sequencing in clinical laboratories. J Mol Diagn. 2016 Mar;18(2):244–252.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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 Jul;44(1):17–24.
   PubMed Web of Science ®Google Scholar
• Reiss RE, Discenza M, Foster J, et al. Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous? Prenat Diagn. 2017 May;37(5):515–520.
   PubMed Web of Science ®Google Scholar
• Yu B, Lu BY, Zhang B, et al. Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood. Medicine (Baltimore). 2017 Jul;96(27):e7114.
   PubMed Web of Science ®Google Scholar
• Suo F, Wang C, Liu T, et al. Non-invasive prenatal testing in detecting sex chromosome aneuploidy: a large-scale study in Xuzhou area of China. Clinica chimica acta. Int J Clin Chem. 2018;481:139–141.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Wang Y, Chen Y, Tian F, et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem. 2014 Jan;60(1):251–259.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Wang L, Meng Q, Tang X, et al. Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Taiwan J Obstet Gynecol. 2015 Oct;54(5):527–531.
   PubMed Web of Science ®Google Scholar
• Mennuti MT, Chandrasekaran S, Khalek N, et al. Cell-free DNA screening and sex chromosome aneuploidies. Prenat Diagn. 2015 Oct;35(10):980–985.
   PubMed Web of Science ®Google Scholar
• Kalousek DK, Dill FJ, Pantzar T, et al. Confined chorionic mosaicism in prenatal diagnosis. Hum Genet. 1987 Oct;77(2):163–167.
   PubMed Web of Science ®Google Scholar
• Taglauer ES, Wilkins-Haug L, Bianchi DW. Cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta. 2014 Feb;35(Suppl):S64–8.
   PubMedGoogle Scholar
• Choi H, Lau TK, Jiang FM, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘false positive‘ due to confined placental mosaicism. Prenat Diagn. 2013 Feb;33(2):198–200.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Russell LM, Strike P, Browne CE, et al. X chromosome loss and ageing. Cytogenet Genome Res. 2007;116(3):181–185.
   PubMed Web of Science ®Google Scholar
• Liao C, Li DZ. Pregnancy outcome following prenatal diagnosis of sex chromosome abnormalities in Mainland China. Prenat Diagn. 2008 May;28(5):443–444.
   PubMed Web of Science ®Google Scholar
• Liao C, Yi CX, Li DZ. Prenatal diagnosis of sex chromosome aneuploidies: experience at a mainland Chinese hospital. J Obstet Gynaecol. 2013 Nov;33(8):827–829.
   PubMedGoogle Scholar
• Boyd PA, Loane M, Garne E, et al. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Human Genet. 2011 Feb;19(2):231–234.
   PubMed Web of Science ®Google Scholar
• Tuke MA, Ruth KS, Wood AR, et al. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med. 2019 Apr;21(4):877–886.
   PubMed Web of Science ®Google Scholar
• 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 Nov;161A(11):2873–2879.
   PubMedGoogle Scholar
• Fleddermann L, Hashmi SS, Stevens B, et al. Current genetic counseling practice in the United States following positive non-invasive prenatal testing for sex chromosome abnormalities. J Genet Couns. 2019 Apr 4;10. doi:10.1002/jgc4.1122
   Google Scholar
• So PL, Cheng KYY, Cheuk KY, et al. Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong. J Obstet Gynaecol Res. 2017 Dec;43(12):1821–1829.
   PubMed Web of Science ®Google Scholar
• Mezei G, Papp C, Toth-Pal E, et al. Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy. Obstet Gynecol. 2004 Jul;104(1):94–101.
   PubMed Web of Science ®Google Scholar
• Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with turner syndrome: proceedings from the 2016 cincinnati international turner syndrome meeting. Eur J Endocrinol. 2017 Sep;177(3):G1–G70.
   PubMed Web of Science ®Google Scholar
• Groth KA, Skakkebaek A, Host C, et al. Clinical review: klinefelter syndrome–a clinical update. J Clin Endocrinol Metab. 2013 Jan;98(1):20–30.
   PubMed Web of Science ®Google Scholar
• Gunther DF, Eugster E, Zagar AJ, et al. Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics. 2004 Sep;114(3):640–644.
   PubMed Web of Science ®Google Scholar
• Dotters-Katz SK, Humphrey WM, Senz KL, et al. The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes. Eur J Obstet Gynecol Reprod Biol. 2016;203:173–176.
   PubMed Web of Science ®Google Scholar
• 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 Part C, Semin Med Genet. 2015 Jun;169(2):150–157.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar