Development and Reproduction (한국발생생물학회지:발생과생식)

The Korean Society of Developmental Biology (한국발생생물학회)
권호 표지
DOI QR코드

DOI QR Code

Prenatally Diagnosed Rare Trisomy 16 Mosaicism in Human Amniotic Fluid Cells in the Second Trimester: A Case Report

  • Received : 2018.04.30
  • Accepted : 2018.06.12
  • Published : 2018.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.

Keywords

References

  1. Astner A, Schwinger E, Caliebe A, Jonat W, Gembruch U (1998). Sonographically detected fetal and placental abnormalities associated with trisomy 16 confined to the placenta. A case report and review of the literature. Prenat Diagn 18:1308-1315. https://doi.org/10.1002/(SICI)1097-0223(199812)18:12<1308::AID-PD443>3.0.CO;2-H
  2. Benn P (1998). Trisomy 16 and trisomy 16 mosaicism: A review. Am J Med Genet 79:121-133. https://doi.org/10.1002/(SICI)1096-8628(19980901)79:2<121::AID-AJMG8>3.0.CO;2-T
  3. Chareonsirisuthigul T, Worawichawong S, Parinayok R, Promsonthi P, Rerkamnuaychoke B (2014). Intrauterine growth retardation fetus with trisomy 16 mosaicism. Case Rep Genet 2014:739513.
  4. Coman D, Gardner RJM, Pertile MD, Kannu P (2010). Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal Diagn Ther 28:117-118. https://doi.org/10.1159/000316404
  5. Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, Grimi B, Dulcetti F, Ruggeri AM, De Toffol S, Maggi F, Wapner R, Gross S, Simoni G (2014). Fetoplacental mosaicism: Potential implications for falsepositive and false-negative noninvasive prenatal screening results. Genet Med 16:620-624. https://doi.org/10.1038/gim.2014.3
  6. Haddad G, He W, Gill J, Witz C, Wang C, Kaskar K, Wang W (2013). Mosaic pregnancy after transfer of a "euploid" blastocyst screened by DNA microarray. J Ovarian Res 6:70. https://doi.org/10.1186/1757-2215-6-70
  7. Hidaka N, Yamamoto N, Tsukimori K, Hojo S, Suzuki SO, Wake N (2009). Prenatal diagnosis of trisomy 16 mosaicism manifested as pulmonary artery stenosis. J Clin Ultrasound 37:107-111. https://doi.org/10.1002/jcu.20499
  8. Langlois S, Yong PJ, Yong SL, Barrett I, Kalousek DK, Miny P, Exeler R, Morris K, Robinson WP (2006). Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn 26:548-558. https://doi.org/10.1002/pd.1457
  9. Mardy A, Wapner RJ (2016). Confined placental mosaicism and its impact on confirmation of NIPT results. Am J Med Genet C Semin Med Genet 172:118-122. https://doi.org/10.1002/ajmg.c.31505
  10. Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE (2011). Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization. Genet Med 13:667-675. https://doi.org/10.1097/GIM.0b013e3182227295
  11. Neiswanger K, Hohler PM, Hively-Thomas LB, McPherson EW, Hogge WA, Surti U (2006). Variable outcomes in mosaic trisomy 16: Five case reports and literature analysis. Prenat Diagn 26:454-461. https://doi.org/10.1002/pd.1437
  12. Post JG, Nijhuis JG (1992). Trisomy 16 confined to the placenta. Prenat Diagn 12:1001-1007. https://doi.org/10.1002/pd.1970121205
  13. Schwartz S, Raffel LJ (1992). Prenatal detection of 45,X/46,XX/47,XXX mosaicism through amniocentesis: mosaicism confirmed in cord blood, amnion, and chorion. Prenat Diagn 12:1043-1046. https://doi.org/10.1002/pd.1970121210
  14. Shaffer LG, McGowan-Jordan J, Schmid M (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger, Basel.
  15. Sparks TN, Thao K, Norton ME (2017). Mosaic trisomy 16: What are the obstetric and long-term childhood outcomes? Genet Med 19:1164-1170. https://doi.org/10.1038/gim.2017.23
  16. Wilson MG, Lin MS, Fujimoto A, Herbert W, Kaplan FM (1989). Chromosome mosaicism in 6,000 amniocenteses. Am J Med Genet 32:506-513. https://doi.org/10.1002/ajmg.1320320417
  17. Yong PJ, Barrett IJ, Kalousek DK, Robinson WP (2003). Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet 40:175-182. https://doi.org/10.1136/jmg.40.3.175