Donetsk's regional specialized center of medical genetic and prenatal diagnosis, Ukraine.
Case report
A 28-year-old woman, G1 P0, was referred to our center for a routine first trimester ultrasound screening at 12 weeks of her pregnancy. Patient's personal and family history was non-contributive. Our ultrasound examination revealed a singleton pregnancy (CRL = 57 mm) with several findings which increased our suspicion of chromosomal abnormality:
- The nuchal translucency, NT=4.3 mm
- Cardiac anomaly - interventricular septal defect.
- Circumvallate placenta
The nasal bone was visualized, frontomaxillary facial angle was normal (73°), there was no regurgitation at the level of the tricuspid valve and normal waveform of ductus venosus.
Biochemical screening revealed beta-hCG and PAPP-A of 0.85 and 0.44 MoM respectively. The combined risk of trisomy 21 was 1:23. Patient agreed on performing a CVS (chorionic villus sampling). The karyotype was 49 XXXXX, pentasomy X.
Images 1,2: Image 1 shows a sagittal scan of the fetus, the nasal bones is present, nuchal translucency is increased. Image 2 shows a normal frontomaxillary facial angle (73 degrees).