Implementation of combined ultrasound and biochemistry for risk evaluation of chromosomal abnormalities during the first trimester in Sweden

Abstract

Objective: To investigate how the first trimester risk evaluation for Down syndrome is offered and performed.

Setting: Sweden.

Sample: All 52 known units working with obstetric ultrasound.

Methods: Study-specific questionnaire and descriptive statistical analyses.

Main outcome measures: Routines for offering combined ultrasound and biochemistry (CUB), questions about information, questions about tests and analysis used for diagnosis.

Results: CUB was performed in 28 600 (26%) of the expected 110 000 pregnancies in Sweden during 2011. Of all pregnant women, 15% were living in a county not offering CUB (only invasive prenatal diagnosis); 44% regardless of age; 15% to women ≥33 years; 24% to women ≥35 years; and 2% to women ≥38 years old. Amniocentesis was the most common method offered when the risk was estimated as high. Of the 47 units that replied, 29 (61.7%) offered only amniocentesis. On the questions about information, 40 (95.2%) stated that they gave verbal information. In addition to verbal information, 17 (40.5%) gave written information. Forty-one of the units (71.9%) stated that the CUB is offered to non-Swedish-speaking women.

Conclusion: Without consistent national guidelines, the prenatal diagnostic CUB method is offered in an inequitable manner to pregnant women in Sweden. More than half of all pregnant women live in a county where CUB is not offered or is only offered based on age. The results demonstrate the importance of national consistency before the introduction of new prenatal tests, to enhance equal care for all pregnant women.

Keywords: Down syndrome; Prenatal examinations; ethical principles; information; risk assessment.