Сase of prenatal diagnostics of the Down syndrome without structural disorders of fetus

Случай пренатальной диагностики синдрома Дауна без структурных нарушений у плода
Zhanar Kurmangali 1, Kulyash Dzhamanaeva 2, Fred Ushakov 3, Mariya Useeva 2, Bakytkali Ibraimov 2
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1 Republican diagnostic center of the corporate fund «UMC», Astana, Kazakhstan
2 National research center for maternal and child health of the corporate fund «UMC», Astana, Kazakhstan
3 University College London Hospital, London, UK
J CLIN MED KAZ, Volume 3, Issue 45 special issue, pp. 121-124. https://doi.org/10.23950/1812-2892-JCMK-00499
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ABSTRACT

A case of prenatal diagnosis of Down's syndrome without combination with other pathologies of the fetus is described. The diagnosis was verified in a cytogenetic and pathoanatomical study. Conducting early diagnosis of this congenital fetal abnormality in the first trimester of pregnancy is topical and is of great importance in addressing the issue of the possibility of prolonging or aborting a pregnancy, postnatal examination and the necessary treatment of the revealed disorders.

CITATION

Kurmangali Z, Dzhamanaeva K, Ushakov F, Useeva M, Ibraimov B. Сase of prenatal diagnostics of the Down syndrome without structural disorders of fetus. Journal of Clinical Medicine of Kazakhstan. 2017;3(45 special issue):121-4. https://doi.org/10.23950/1812-2892-JCMK-00499

REFERENCES

  • Alldred S, Guo B, Takwoingi Y, Pennant M, Wisniewski S, Deeks JJ, Neilson J, Alfirevic Z. Screening tests for Down’s syndrome in first 24 weeks of pregnancy. Cochrane Database of Systematic Reviews.2015:10.1002/14651858.CD011984.
  • Nicolaides KH. Screening for fetal aneuploidies at 11-13 weeks. J Prenatal diagnosis. 2011;31:7-15.
  • Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH. Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation. J Ultrasound Obstet Gynecol. 2009;33:259-64.
  • Kagan KO, Staboulidou I, Cruz J, Wright D, Nicoladides KH. Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing. J Ultrasound Obstet Gynecol.2010;36(5):542-7.
  • Alldred SK, Takwoingi Y, Guo B, Pennant M, Deeks JJ, Neilson JP, Alfirevic Z. First trimester serum tests for Down's syndrome screening.Cochrane Database Syst Rev. 2015 Nov 30;(11):CD011975.
  • Ghaffari SR, Tahmasebpour AR, Jamal A, Hantoushzadeh S, Eslamian L, Marsoosi Vet al. First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductusvenosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study. J Ultrasound Obstet Gynecol. 2012;39(5):528-34.
  • Loureiro T., Ushakov F., Montenegro N., Gielchinsky Y., Nicolaides KH. Cerebral ventricular system in fetuses with open spina bifida at 11–13 weeks’ gestation. J Ultrasound Obstet Gynecol. 2012; 39(6):620-4.