First trimester detection of trisomy 16 using combined biochemical and ultrasound screening

Authors


  • Funding sources: None

  • Conflicts of interest: Consultant for Brahms (KS). Department has Research Funding from PerkinElmer (KS).

Abstract

What's already known about this topic?

  • Four previously reported cases of trisomy 16 have shown reduced levels of pregnancy-associated plasma protein-A during first trimester screening for trisomy 21.
  • Isolated increases in free β human chorionic gonadotrophin and nuchal translucency were observed in these four cases.

What does this study add?

  • During first trimester screening for aneuploidy, we observed a further 28 cases of trisomy 16, all of which had reduced levels of pregnancy-associated plasma protein-A consistent with previous reported cases.
  • Increased free β human chorionic gonadotrophin and increased nuchal translucency were not a consistent finding in our 28 cases.

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