Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)

1. Tulay P, Ergoren MC, Alkaya A, Yayci E, Sag SO, Temel SG. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case. Glob Med Genet. 2020 Dec;7(4):128–132. TulayP ErgorenMC AlkayaA YayciE SagSO TemelSG Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case Glob Med Genet 2020 Dec 7 4 128 132 Search in Google Scholar

2. Dabrowski E, Johnson EK, Patel V, Hsu Y, Davis S, Goetsch AL, Habiby R, Brickman WJ, Finlayson C. Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy. J Pediatr Adolesc Gynecol. 2020 Feb;33(1):10–14. DabrowskiE JohnsonEK PatelV HsuY DavisS GoetschAL HabibyR BrickmanWJ FinlaysonC Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy J Pediatr Adolesc Gynecol 2020 Feb 33 1 10 14 Search in Google Scholar

3. Zhang H, Zhang X, Yang M. Clinical case report: A case of Turner syndrome with Graves’ disease. Medicine (Baltimore). 2020 Mar;99(11):e19518. ZhangH ZhangX YangM Clinical case report: A case of Turner syndrome with Graves’ disease Medicine (Baltimore) 2020 Mar 99 11 e19518 Search in Google Scholar

4. Libotte F, Carpineto SL, Dello Russo C, Viola A, Margiotti K, Restaldi F, Novelli A, Mesoraca A, Giorlandino C. Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations. J Med Life. 2020 Oct–Dec;13(4):624–628. LibotteF CarpinetoSL Dello RussoC ViolaA MargiottiK RestaldiF NovelliA MesoracaA GiorlandinoC Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations J Med Life 2020 Oct–Dec 13 4 624 628 Search in Google Scholar

5. Canto P, Galicia N, Söderlund D, Escudero I, Méndez JP. Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. Eur J Obstet Gynecol Reprod Biol. 2004 Jul 15;115(1):55–8. CantoP GaliciaN SöderlundD EscuderoI MéndezJP Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism Eur J Obstet Gynecol Reprod Biol 2004 Jul 15 115 1 55 8 Search in Google Scholar

6. Rojek A, Obara-Moszynska M, Kolesinska Z, Rabska-Pietrzak B, Niedziela M. Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome. Sex Dev. 2017;11(5–6):254–261. RojekA Obara-MoszynskaM KolesinskaZ Rabska-PietrzakB NiedzielaM Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome Sex Dev. 2017 11 5–6 254 261 Search in Google Scholar

7. Jeppesen LD, Hatt L, Singh R, Schelde P, Andreasen L, Markholt S, Lildballe DL, Vogel I. Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT. Front Genet. 2021 Sep 14;12:741752. JeppesenLD HattL SinghR ScheldeP AndreasenL MarkholtS LildballeDL VogelI Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome-Applications and Advantages of Cell-Based NIPT Front Genet 2021 Sep 14 12 741752 Search in Google Scholar

8. Silva-Grecco RL, Trovó-Marqui AB, Sousa TA, Croce LD, Balarin MA. Identification of Y-Chromosome Sequences in Turner Syndrome. Indian J Pediatr. 2016 May;83(5):405–9. Silva-GreccoRL Trovó-MarquiAB SousaTA CroceLD BalarinMA Identification of Y-Chromosome Sequences in Turner Syndrome Indian J Pediatr 2016 May 83 5 405 9 Search in Google Scholar

9. Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS. Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn. 2010 Jul;30(7):674–81. RaymondFL WhittakerJ JenkinsL LenchN ChittyLS Molecular prenatal diagnosis: the impact of modern technologies Prenat Diagn 2010 Jul 30 7 674 81 Search in Google Scholar

10. Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, Devriendt K, Legius E, Vermeesch JR. Clinical implementation of NIPT - technical and biological challenges. Clin Genet. 2016 May;89(5):523–30. BradyP BrisonN Van Den BogaertK de RavelT PeetersH Van EschH DevriendtK LegiusE VermeeschJR Clinical implementation of NIPT - technical and biological challenges Clin Genet 2016 May 89 5 523 30 Search in Google Scholar

11. Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R. Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review. Genes (Basel). 2021 Mar 29;12(4):501. BedeiI WolterA WeberA SignoreF Axt-FliednerR Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review Genes (Basel) 2021 Mar 29 12 4 501 Search in Google Scholar

12. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014 Aug;22(8):969–78. PhamJ ShawC PursleyA HixsonP SampathS RoneyE GambinT KangSH BiW LalaniS BacinoC LupskiJR StankiewiczP PatelA CheungSW Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases Eur J Hum Genet 2014 Aug 22 8 969 78 Search in Google Scholar

13. Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ. 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 Jan 15;11(1):e0146794. Van OpstalD SrebniakMI PolakJ de VriesF GovaertsLC JoostenM GoAT KnapenMF van den BergC DiderichKE GaljaardRJ 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 Jan 15 11 1 e0146794 Search in Google Scholar

14. Weidler EM, Pearson M, van Leeuwen K, Garvey E. Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents. Semin Pediatr Surg. 2019 Oct;28(5):150841. WeidlerEM PearsonM van LeeuwenK GarveyE Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents Semin Pediatr Surg 2019 Oct 28 5 150841 Search in Google Scholar

15. Lindhardt Johansen M, Hagen CP, Rajpert-De Meyts E, Kjærgaard S, Petersen BL, Skakkebæk NE, Main KM, Juul A. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study. J Clin Endocrinol Metab. 2012 Aug;97(8):E1540–9. Lindhardt JohansenM HagenCP Rajpert-De MeytsE KjærgaardS PetersenBL SkakkebækNE MainKM JuulA 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study J Clin Endocrinol Metab 2012 Aug 97 8 E1540 9 Search in Google Scholar

16. Reddy KS, Sulcova V. Pathogenetics of 45,X/46,XY gonadal mosaicism. Cytogenet Cell Genet. 1998;82(1–2):52–7. ReddyKS SulcovaV Pathogenetics of 45,X/46,XY gonadal mosaicism Cytogenet Cell Genet. 1998 82 1–2 52 7 Search in Google Scholar

17. Bakoto N, Corman V, Legros JJ. Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis. Ann Endocrinol (Paris). 2011 Feb;72(1):45–7. BakotoN CormanV LegrosJJ Ascending aortic aneurysm in a patient with mixed gonadal dysgenesis Ann Endocrinol (Paris) 2011 Feb 72 1 45 7 Search in Google Scholar

18. Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome. Arch Dis Child. 1994 Nov;71(5):433–6. GøtzscheCO Krag-OlsenB NielsenJ SørensenKE KristensenBO Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome Arch Dis Child 1994 Nov 71 5 433 6 Search in Google Scholar

19. Hatano M, Fukuzawa R, Hasegawa Y. The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis. Sex Dev. 2018;12(4):175–179. HatanoM FukuzawaR HasegawaY The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis Sex Dev. 2018 12 4 175 179 Search in Google Scholar

20. Rosa RF, D’Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, Graziadio C, Paskulin GA, Zen PR. 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Sao Paulo Med J. 2014 Dec;132(6):332–8. RosaRF D’EcclesiisWF DibbiRP RosaRC TrevisanP GraziadioC PaskulinGA ZenPR 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study Sao Paulo Med J 2014 Dec 132 6 332 8 Search in Google Scholar

21. Rasouli M, McDaniel K, Awadalla M, Chung K. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Rep Obstet Gynecol. 2019 Apr 11;2019:3719178. RasouliM McDanielK AwadallaM ChungK Mosaic Turner Syndrome Presenting with a 46,XY Karyotype Case Rep Obstet Gynecol 2019 Apr 11 2019 3719178 Search in Google Scholar

22. Lebo R V, Novak R W, Wolfe K, Michelson M, Robinson H, Mancuso M S. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative , placental mosaic , and fetal mosaic cfDNA genotypes. Journal of Translational Medicine. 2015 Aug; 260(13):1–16. LeboR V NovakR W WolfeK MichelsonM RobinsonH MancusoM S Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative , placental mosaic , and fetal mosaic cfDNA genotypes Journal of Translational Medicine 2015 Aug 260 13 1 16 Search in Google Scholar

23. Hayata K, Hiramatsu Y, Masuyama H, Eto E, Mitsui T, Tamada S. Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review. Acta Med Okayama. 2017 Apr;71(2):181–185. HayataK HiramatsuY MasuyamaH EtoE MitsuiT TamadaS Discrepancy between Non-invasive Prenatal Genetic Testing (NIPT) and Amniotic Chromosomal Test due to Placental Mosaicism: A Case Report and Literature Review Acta Med Okayama 2017 Apr 71 2 181 185 Search in Google Scholar

24. Wolstenholme J, Evans J, English C. A 45,X fetus with false-negative 46,XX findings in CVS. Prenat Diagn. 2008 Mar;28(3):266–7. WolstenholmeJ EvansJ EnglishC A 45,X fetus with false-negative 46,XX findings in CVS Prenat Diagn 2008 Mar 28 3 266 7 Search in Google Scholar

25. Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet. 1993 Sep;44(3):142–5. BisatT MayK LitwerS BroeckerB Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia Clin Genet 1993 Sep 44 3 142 5 Search in Google Scholar

26. Serapinas D, Bartkeviciene D, Valantinaviciene E, Machtejeviene E. Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism. Arch Argent Pediatr. 2016 Oct 1;114(5):e362–5. English, Spanish. SerapinasD BartkevicieneD ValantinavicieneE MachtejevieneE Normal newborn with prenatal suspicion of X chromosome monosomy due to confined placental mosaicism Arch Argent Pediatr 2016 Oct 1 114 5 e362 5 English, Spanish. Search in Google Scholar