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2018-12-20  Trisomy 18  © Lusine Karapetyan

Trisomy 18

Case report
33-year-old (G2P1) was sent to our unit for second trimester scan. First trimester scan was done with NT-3,2 mm (above 95 percentile). Calculated risk for trisomy 18 was 1:105. Although parents refused karyotyping and opted for continuation of the pregnancy.
Our scanning at 21 and 30 weeks of pregnancy revealed atrioventricular septal defect, choroid plexus cyst (at 21 weeks), mild micrognathia, umbilical cord pseudocysts, clenched fists and overlapping fingers and intrauterine growth restriction.

After birth fetal Karyotyping revealed 47XX+18

21 weeks

Images 1 and 2: shows omplete form of atrioventricular septal defect.

Images 3 and 4: show choroid plexus cyst and wide cavum septi pellucidi.

Images 5 and 6: show two umbilical arteries and clenched fist.

30 weeks

Images 7-9: show fetal face with mild micrognathia and clenched fist with overlapping fingers.

Videos 1-3: shows atrioventricular septal defect (type A according to the Rastelli).

Image 10 and video 3: show dilated umbilical cord with Wharton’s jelly edema and pseudocysts.

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