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Niknejadi M, Ahmadi F, Akhbari F, et al. Sonographic findings in partial type of trisomy 18. Int J Fertil Steril. 2013;7(4):349-52
Niknejadi, M., Ahmadi, F., Akhbari, F., & Afsharian, P. (2014). Sonographic findings in partial type of trisomy 18. International journal of fertility & sterility, 7(4), 349-52.
Niknejadi, Maryam, et al. "Sonographic findings in partial type of trisomy 18." International journal of fertility & sterility vol. 7,4 (2014): 349-52.
Niknejadi M, Ahmadi F, Akhbari F, Afsharian P. Sonographic findings in partial type of trisomy 18. Int J Fertil Steril. 2014 Jan;7(4):349-52. Epub 2013 Dec 22. PMID: 24520506; PMCID: PMC3901184.
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Int J Fertil Steril. 2014 Jan;7(4):349-52. Epub 2013 Dec 22.

Sonographic findings in partial type of trisomy 18.

International journal of fertility & sterility

Maryam Niknejadi, Firoozeh Ahmadi, Farnaz Akhbari, Parvaneh Afsharian

Affiliations

  1. Department of Reproductive Imaging at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
  2. Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.

PMID: 24520506 PMCID: PMC3901184

Abstract

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.

Keywords: Congenital Abnormality; Fetal Ultrasonography; Trisomy 18

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