Sonographic Findings in Partial Type of Trisomy 18

International Journal of Fertility and Sterility

Parvaneh Afsharian¹  Maryam Niknejadi²  Farnaz Akhbari²  Firoozeh Ahmadi² 

[1] Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine,ACECR, Tehran, Iran;Department of Reproductive Imaging at Reproductive Biomedicine Research Center, Royan Institute for ReproductiveBiomedicine, ACECR, Tehran, Iran;

关键词: trisomy 18;    fetal ultrasonography;    congenital abnormality;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown