Past Issue

Volume 7, Number 4, Jan-Mar 2014, Pages: 349-352

Sonographic Findings in Partial Type of Trisomy 18


Maryam Niknejadi, M.D, 1, Firoozeh Ahmadi, M.D, 1, *, Farnaz Akhbari, B.Sc, 1, Parvaneh Afsharian, Ph.D, 2,
Department of Reproductive Imaging at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
* Corresponding Address: P.O.Box: 16635-148 Department of Re-productive Imaging at Reproductive Biomedicine Research Center Royan Institute for Reproductive Biomedicine ACECR Tehran Iran Email: dr.ahmadi1390@gmail.com

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.