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2011-04-14-11 Pentasomy X syndrome © Averyanov

Pentasomy X syndrome

Andrey Averyanov, MD., Margarita Nikolenko, MD., Irina Glazkova, MD., Lyudmila Khlevnaya, MD., Svetlana Arbuzova, MD PhD.

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).

Images 3,4
: Image 3 shows a normal flow at the level of the ductus venosus. Image 4 shows no tricuspid valve regurgitation.

Image 5,6
: Image 5 shows a circumvallate placenta, arrow points at the fetus. Image 6 shows a normal three - vessel view - pulmonary artery (PA), aorta (Ao), superior vena cava (VCS).

Images 7,8
: 4-chamber view with suspected  interventricular septal defect (note arrow).

Image 9: Fetal karyotype with pentasomy of the chromosome X.

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