Journal of Genetic Medicine

  • 제14권1호
  • /
  • Pages.31-33
  • /
  • 2017
  • /
  • 1226-1769(pISSN)
  • /
  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
권호 표지
DOI QR코드

DOI QR Code

A case of maternal uniparental disomy of chromosome 20 detected by noninvasive prenatal test of 1,000 high-risk pregnancies

  • 투고 : 2017.04.12
  • 심사 : 2017.05.29
  • 발행 : 2017.06.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental disomy (UPD). Noninvasive prenatal test (NIPT) reflects the genomic constitution of the placenta, not of the fetus itself. Feto-placental discrepancy can therefore cause false-positive (trisomy) NIPT results. These discordant NIPT results can serve as important clues to find UPD associated with confined placental mosaicism. We report a case with maternal UPD of chromosome 20, detected by NIPT of 1,000 high-risk pregnancies, carried out for detecting chromosomal abnormalities in Koreans.

키워드

참고문헌

  1. Brady P, Brison N, Van Den Bogaert K, de Ravel T, Peeters H, Van Esch H, et al. Clinical implementation of NIPT - technical and biological challenges. Clin Genet 2016;89:523-30. https://doi.org/10.1111/cge.12598
  2. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, et al. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Hum Genet 1999;7:533-40. https://doi.org/10.1038/sj.ejhg.5200287
  3. Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, et al. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients. J Med Genet 2001;38:86-9. https://doi.org/10.1136/jmg.38.2.86
  4. Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 2001;21:860-3. https://doi.org/10.1002/pd.158
  5. Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet A 2004;124A:274-9. https://doi.org/10.1002/ajmg.a.20430
  6. Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, et al. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis. Eur J Hum Genet 2002;10:694-8. https://doi.org/10.1038/sj.ejhg.5200867
  7. Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, et al. Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. Genet Med 2016;18:309-15. https://doi.org/10.1038/gim.2015.103
  8. Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, et al. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn 2013;33:598-601. https://doi.org/10.1002/pd.4069