Prenatal diagnosis and information

Background and aim

New and more sensitive ultrasound examinations as fetal diagnostic methods are being introduced. Diagnosis can be made more accurate and more abnormalities detected. In the same time, more and smaller abnormalities can be determined, which may not be linked to a certain diagnosis. There is no definite answer on whether the fetus has a chromosomal abnormality or not, only a risk estimate. The risk estimates only tell whether the fetus have an increased risk for chromosomal aberration. This leads to great difficulties and big challenges when informing prospective parents before and after the examination about possible findings and risk estimates. In this study, we examine how to best inform prospective parents about prenatal diagnosis and risks, so that they can make informed choices about prenatal diagnosis and possible further investigation and to minimize psychological distress. These objectives are examined within two new issues surrounding prenatal diagnosis, a) Genetic markers ultrasound and b) Combined ultrasound and biochemistry (CUB). Risk assessment, knowledge, psychosocial and ethical aspects and how to inform prospective parents will be targeted c) study the pregnant women and their partner’s knowledge about Down’s syndrome. The project consists of three parts;

  • Genetic softmarkers- present practise and how should expecting parents be informed
  • Early prenatal diagnosis with ultrasound and biochemistry- information, risk estimation, knowledge and psychosocial aspects.
  • Pregnant women and their partners about prenatal diagnosis and Downs syndrome.


Financed by “vårdforskningsmedel” 2010-2011

Project group

Karin Nordin, Charlotta Ingvoldstad, Ove Axelsson, Peter Lindgren, Mats G Hannson, Uppsala University



Karin Nordin

018-471 3487