Skip to main content
SpringerLink
Log in

Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report

  • Case Report
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

An Erratum to this article was published on 05 August 2008

Abstract

Trisomy of chromosome 18 is the second most common autosomal trisomy, occurring in approximately 1:7,000 live births. Its prenatal diagnosis through abnormal findings in ultrasound with later analysis of fetal karyotype is important for a definition of the prognosis and counseling of the patients. We describe a case of trisomy 18 as true mosaicism diagnosed through amniocentesis in the second trimester of pregnancy, associated to the presence of multiple fetal phenotypic alterations. We focus on the importance of fetal morphological study through three-dimensional ultrasonography, which was highly important for clearly showing the fetus’ structural alterations, helping parents to understand better the pathology and allowing them to reason about the continuity of the gestation.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Goldstein H, Nielsen KG (1988) Rates and survival of individuals with trisomy 13 and 18. Clin Genet 34:366–372

    Article  PubMed  CAS  Google Scholar 

  2. Baty BJ, Blackburn BL, Carey JC (1994) Natural history of trisomy 18 and trisomy 13: growth, physical assessment, medical histories, survival, and recurrent risk. Am J Med Genet 49:175–188

    Article  PubMed  CAS  Google Scholar 

  3. Méndez LA, Quiñónez O, Hernández G et al (2005) Study of mosaicism and pseudomosaicism in prenatal diagnosis. Experience in Havana City. Rev Cuba Genet Hum [serial online] 2004; 5(2):[8 screens]. http://www.sigemec.sld.cu/rcgh/ing/revista_ing/V5n2_2004/Mosaicismo.trad.pdf

  4. Oyler M, Long BW, Cox LA (2004) Sonographic markers used to detect frequent trisomies. Radiol Technol 76(1):13–18

    PubMed  Google Scholar 

  5. Sepulveda W, Corral E, Ayala C, Be S, Gutierrez J, Vasquez P (2004) Chromosomal abnormalities in fetuses with open neural tube defects: prenatal identification with ultrasound. Ultrasound Obstet Gynecol 23:352–356

    Article  PubMed  CAS  Google Scholar 

  6. Yonehara T, Hata T, Aoki S (1998) Three-dimensional sonography in diagnosing trisomy 18. AJR Am J Roentgenol 171:1165–1166

    PubMed  CAS  Google Scholar 

  7. Wallerstein R, Yu MT, Neu RL et al (2000) Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype–phenotype correlations. Prenat Diagn 20:103–122

    Article  PubMed  CAS  Google Scholar 

  8. Hsu LYF, Yu MT, Richkind KE, Van Dyke DL et al (1996) Incidence and significance of chromosomal mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat Diagn 16:1–28

    Article  PubMed  CAS  Google Scholar 

  9. Van Ravenswaaij-Arts CMA, Tuerlings JHAM, Van Heyst AFJ, Nijhuis JG, Niehof J, Smeets FCM (1997) Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY + 3/48,XXY, + 18 karyotype. Prenat Diagn 17(4):375–379

    Article  PubMed  Google Scholar 

  10. Kuwata T, Matsubara S, Izumi A et al (2003) Umbilical cord pseudocyst in a fetus with trisomy 18. Fetal Diagn Ther 18:8–11

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Reinaldo Tavares de Melo Street, 142/901, Manaíra, João Pessoa, Paraíba, ZIP 58038-300, Brazil

    Hélio Antonio Guimarães Filho

  2. Department of Obstetrics, São Paulo’s Federal University, Paulista Medical School, Rua Napoleão de Barros, 715-8° andar, São Paulo, São Paulo, 04023-900, Brazil

    Edward Araujo Júnior, Rosiane Mattar, Cláudio R. Pires & Antonio F. Moron

  3. Ultrasound Training Center of São Paulo, São Paulo, Brazil

    Sebastião Marques Zanforlin Filho

  4. São Paulo’s Federal University, São Paulo, Brazil

    Luciano Marcondes Machado Nardoza

Authors
  1. Hélio Antonio Guimarães Filho
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Edward Araujo Júnior
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Rosiane Mattar
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Cláudio R. Pires
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sebastião Marques Zanforlin Filho
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Antonio F. Moron
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Luciano Marcondes Machado Nardoza
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Hélio Antonio Guimarães Filho.

Additional information

An erratum to this article can be found at http://dx.doi.org/10.1007/s00404-008-0657-9

Rights and permissions

Reprints and permissions

About this article

Cite this article

Guimarães Filho, H.A., Araujo Júnior, E., Mattar, R. et al. Prenatal diagnosis of trisomy 18 as true mosaicism by three-dimensional ultrasonography: a case report. Arch Gynecol Obstet 275, 133–135 (2007). https://doi.org/10.1007/s00404-006-0157-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00404-006-0157-8

Keywords

Search

Navigation