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Articles » Aneuploidy » Triploidy

2011-03-31-11 Triploidy © Muresan


Marius Bogdan Muresan, MD.

Medical Center of Dr.Muresan, Timisoara, Romania.

Case report

This is a case of a 27-year-old G1 P0 who came at 12 weeks for the first trimester ultrasound scan. Patient's personal and family history was non-contributive. Her partner went through the chemotherapy treatment during the time of conception.
The ultrasound showed increased nuchal translucency, NT=2.95 mm and abnormal Doppler of ductus venosus. Nasal bone was present and there was no tricuspid valve regurgitation. The posterior fossa of the brain looked abnormal but there were otherwise no other apparent malformations.
Blood testing: PAPP-A: 0.158 MoM, free Beta hCG: 0.676 MoM.
Patient agreed on performing a CVS (chorionic villus sampling). The karyotype was 69 XXX, triploidy.

Images 1,2: Sagittal view of the fetus, NT=2.95 mm, nasal bone is present.

Images 3,4: Image 3 shows an axial view of the fetal brain. Image 4 shows abdominal (AC) and head circumference (HC),
AC measured within the median for the gestational age, HC and BPD were greater.

Images 5,6: Images of the posterior fossa which seemed enlarged.

Images 7,8
: Image 7 shows amniochorionic dissociation. Image 8, Doppler imaging shows the heart chambers.

Images 9,10: Image 9 shows both umbilical arteries. Image 10 shows Doppler of the tricuspid valve with no signs of regurgitation.

Image 11: Doppler of the ductus venosus shows abnormal flow.

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