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Sonographic Findings in Partial Type of Trisomy 18

Trisomy 18 (Edwards syndrome) is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trime...

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Autores principales: Niknejadi, Maryam, Ahmadi, Firoozeh, Akhbari, Farnaz, Afsharian, Parvaneh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901184/
https://www.ncbi.nlm.nih.gov/pubmed/24520506
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author Niknejadi, Maryam
Ahmadi, Firoozeh
Akhbari, Farnaz
Afsharian, Parvaneh
author_facet Niknejadi, Maryam
Ahmadi, Firoozeh
Akhbari, Farnaz
Afsharian, Parvaneh
author_sort Niknejadi, Maryam
collection PubMed
description Trisomy 18 (Edwards syndrome) is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trimesters. In this case re- port, we present a partial type of trisomy 18 occurring through de novo unbalanced translocation of chromosomes 18 and 21. The ultrasound features enabling the early detection of trisomy 18 include a delayed ossification of calvarium combined with early onset of fetal growth restriction (FGR) and the absence of nasal bone through performing triple test followed by amniocentesis. Finally, the parents decided to terminate the pregnancy.
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spelling pubmed-39011842014-02-11 Sonographic Findings in Partial Type of Trisomy 18 Niknejadi, Maryam Ahmadi, Firoozeh Akhbari, Farnaz Afsharian, Parvaneh Int J Fertil Steril Case Report Trisomy 18 (Edwards syndrome) is the second most common trisomy among live born fetuses, with poor prognosis. Estimate of its incidence is between 1 in 4000- 16000 live births. Most of the chromosomal abnormalities in fetuses are detected by prenatal ultrasound findings in the first and second trimesters. In this case re- port, we present a partial type of trisomy 18 occurring through de novo unbalanced translocation of chromosomes 18 and 21. The ultrasound features enabling the early detection of trisomy 18 include a delayed ossification of calvarium combined with early onset of fetal growth restriction (FGR) and the absence of nasal bone through performing triple test followed by amniocentesis. Finally, the parents decided to terminate the pregnancy. Royan Institute 2014 2013-12-22 /pmc/articles/PMC3901184/ /pubmed/24520506 Text en Any use, distribution, reproduction or abstract of this publication in any medium, with the exception of commercial purposes, is permitted provided the original work is properly cited http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Niknejadi, Maryam
Ahmadi, Firoozeh
Akhbari, Farnaz
Afsharian, Parvaneh
Sonographic Findings in Partial Type of Trisomy 18
title Sonographic Findings in Partial Type of Trisomy 18
title_full Sonographic Findings in Partial Type of Trisomy 18
title_fullStr Sonographic Findings in Partial Type of Trisomy 18
title_full_unstemmed Sonographic Findings in Partial Type of Trisomy 18
title_short Sonographic Findings in Partial Type of Trisomy 18
title_sort sonographic findings in partial type of trisomy 18
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901184/
https://www.ncbi.nlm.nih.gov/pubmed/24520506
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