Department of Medical Genetic and Fetal Medicine, University Hospital, Olomouc, Czech Rep

This is a 35-year-old woman G4 P2 (first pregnancy interruption and two spontaneous vaginal deliveries at term) referred to our hospital for a routine first trimester screening. The scan revealed a pregnancy of 12 weeks gestation (CRL = 55.9 mm) that corresponded to last menstrual period.

The anamnesis of the patient was notable for a total right side and partial left side ovariectomy for endometriosis, resection of a benign polyp from urinary bladder and total thyroidectomy for benign hyperplasia. She is medicated with Letrox for this reason.

The first trimester screening showed typical signs for Down syndrome:

• nuchal translucency of 4.8 mm
• absent nasal bone
• regurgitation of the tricuspid valve
• Beta-hCG and PAPP-A MoM were 1, 15 and 0, 16 respectively

This resulted in a combined risk of 1: 3 for trisomy 21.

As we serve this screening in a one-stop clinic the lady was offered CVS. QF PCR revealed Trisomy 21 in 48 hours. Termination of pregnancy was indicated and done during the next 3 days.

Nuchal translucency of 4.8 mm:

Absent nasal bone:

Regurgitation of the tricuspid valve: