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Articles » Aneuploidy » Trisomy 18

2015-05-10-19 Trisomy 18 © Shah

Trisomy 18

Jayprakash Shah, MD.

Rajni Hospital, Fetal Medicine center, Ahmedabad, India.


Case report

Following images and videos show a case of trisomy 18 of a 25 weeks+6 days old fetus of a 30 years old primigravida with no contributive history.

Previous scans were reported to be normal exept of a small omphalocele that was seeen during the latest examination.

Our examination reveled following findings:

Images 1, 2: Biometry of fetal head corresponded to the gestational age. Brachycephaly with small choroid plexus cysts were seen.


Images 3, 4: Biometry of fetal abdomen (AC), femur (FL), and humerus (HL) were behind gestationl age (GA) - AC approximatelly three weeks behind GA, femur and humerus approximatelly two weeks behind GA. 


Images 5, 6, and videos 1, 2: The images and videos show a small omphalocele.



Images 7, 8: Image 7 shows multiple umbilical cord cysts of the fetus. The image 8 shows 3D representation of the fetal club hand. 


Images 9, 10, 11, and videos 3, 4: Fetal heart appeared to be normal but right-deviated.



Image 12: Amniotic cell culture metaphase karyotype: ‘G’ banding confirming the diagnosis of the trisomy 18.

The parents opted for the termination of the pregnancy.

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