Related Experiment Video
Updated: May 3, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Sonographic findings in partial type of trisomy 18
Maryam Niknejadi1, Firoozeh Ahmadi1, Farnaz Akhbari1
1Department of Reproductive Imaging at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
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.
Related Concept Videos
Meiosis I
Karyotyping
Karyotyping
Imaging Studies II: Ultrasonography
Ultrasonography
During an ultrasonography procedure, a handheld device called...
Imaging Studies for Cardiovascular System II:Types of Echocardiography
Types of Echocardiography
Transthoracic Echocardiography (TTE)
TTE is the most common type of echocardiogram which involves placing a transducer on the patient's chest, emitting sound waves to create heart images. TTE is invaluable for evaluating the heart's size, structure, and motion, making it particularly useful for...

