Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report

  • Kim, Ji Hye (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Lee, Gun Ho (Department of Obstetrics and Gynecology, CHA Gumi Medical Center, CHA University) ;
  • Cha, Dong Hyun (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University) ;
  • Cho, Eun-Hae (Green Cross Genome) ;
  • Jung, Yong Wook (Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University)
  • Received : 2015.11.06
  • Accepted : 2015.12.10
  • Published : 2015.12.31
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Abstract

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

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References

  1. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet 1991;87:81-3. https://doi.org/10.1007/BF01213097
  2. Kleczkowska A, Dmoch E, Kubien E, Fryns JP, Van den Berghe H. Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989. Genet Couns 1990;1:227-33.
  3. Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485-7. https://doi.org/10.1016/S0140-6736(97)02174-0
  4. Chandrasekharan S, Minear MA, Hung A, Allyse M. Noninvasive prenatal testing goes global. Sci Transl Med 2014;6:231fs15. https://doi.org/10.1126/scitranslmed.3008704
  5. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799-808. https://doi.org/10.1056/NEJMoa1311037
  6. Gil MM, Quezada MS, Bregant B, Ferraro M, Nicolaides KH. Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies. Ultrasound Obstet Gynecol 2013;42:34-40.
  7. Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014;124:210-8. https://doi.org/10.1097/AOG.0000000000000363
  8. Porreco RP, Garite TJ, Maurel K, Marusiak B; Obstetrix Collaborative Research Network, Ehrich M, van den Boom D, 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;211:365.e1-12. https://doi.org/10.1016/j.ajog.2014.03.042
  9. Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, et al. Noninvasive 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;43:254-64. https://doi.org/10.1002/uog.13277
  10. Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890-901. https://doi.org/10.1097/AOG.0b013e31824fb482
  11. Mazloom AR, Dzakula Z, Oeth P, Wang H, Jensen T, Tynan J, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013;33:591-7. https://doi.org/10.1002/pd.4127
  12. Nicolaides KH, Musci TJ, Struble CA, Syngelaki A, Gil MM. Assessment of fetal sex chromosome aneuploidy using directed cell-free DNA analysis. Fetal Diagn Ther 2014;35:1-6. https://doi.org/10.1159/000357198
  13. Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn 2013;33:643-9. https://doi.org/10.1002/pd.4159
  14. Benn P. Non-invasive prenatal testing using cell free DNA in maternal plasma: Recent developments and future prospects. J Clin Med 2014;3:537-65. https://doi.org/10.3390/jcm3020537
  15. Neufeld-Kaiser WA, Cheng EY, Liu YJ. Positive predictive value of noninvasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center. BMC Med 2015;13:129. https://doi.org/10.1186/s12916-015-0374-8
  16. Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211:527.e1-527.e17. https://doi.org/10.1016/j.ajog.2014.08.006
  17. Russell LM, Strike P, Browne CE, Jacobs PA. X chromosome loss and ageing. Cytogenet Genome Res 2007;116:181-5. https://doi.org/10.1159/000098184
  18. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med 2004;351:1227-38. https://doi.org/10.1056/NEJMra030360
  19. Otter M, Schrander-Stumpel CT, Curfs LM. Triple X syndrome: a review of the literature. Eur J Hum Genet 2010;18:265-71. https://doi.org/10.1038/ejhg.2009.109
  20. Gromminger S, Yagmur E, Erkan S, Nagy S, Schock U, Bonnet J, et al. Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins. J Clin Med 2014;3:679-92. https://doi.org/10.3390/jcm3030679