Sven Gustafsson

Serum levels of 25-hydroxyvitamin D in mothers of Swedish and of Somali origin who have children with and without autism.

Aim:  To analyse serum levels of 25‐hydroxyvitamin D in mothers of Somali origin and those of Swedish origin who have children with and without autism as there is a growing evidence that low vitamin D impacts adversely on brain development.

Severe vitamin D deficiency in pregnant women of Somali origin living in Sweden

1.Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital Solna, Stockholm, Sweden 2.Department of Molecular Medicine and Surgery, Karolinska Institute Stockholm, Stockholm, Sweden 3.Autism Centre for Young Children, Handicap and Habilitation, Stockholm, Sweden 4.Faculty of Medicine, Medical Student, Uppsala University, Uppsala, Sweden 5.PRIMA Child and Adolescent Psychiatry, Stockholm, Sweden 6.Karolinska Institute and Clinical Chemistry, Karolinska University Hospital, Stockholm, Sweden 7.Department of Paediatrics, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden

First trimester contingent testing with either nuchal translucency or cell‐free DNA. Cost efficiency and the role of ultrasound dating

To evaluate the performance and cost efficacy of different first‐trimester contingent screening strategies based on an initial analysis of biochemical markers.

Combined ultrasound and biochemistry for risk evaluation in the first trimester

Objective. To evaluate the performance of a new first trimester web‐based software for the detection of chromosomal anomalies using a combination of ultrasound and biochemistry. Design. Registry‐based cohort study. Setting. Ultrasound units in the Stockholm region. Population. 20 710 women with singleton pregnancies were examined at 11+0 to 13+6 weeks’ gestational age during a three‐year period 2006–2009. Methods. The risks for trisomy 21, 13 and 18 were calculated using a combination of maternal age, serum markers and nuchal translucency. Individual risk estimates were calculated and then reported to a web‐based system using a new algorithm based on likelihood ratios of each marker derived from Gaussian distributions in normal and affected pregnancies. Main outcome measures. The impact on rates of invasive testing and the incidence of children born with Downs syndrome after implementing the method. Results. Approximately a third of all pregnant women in the region were examined with the combined test. The detection and test positive rates for Downs syndrome was 90 and 6.8%, respectively. Invasive testing among pregnant women decreased from 15 to 8% after introducing the method but the incidence of children born with Downs syndrome did not decrease during the study period. Conclusion. The new web‐based software is an effective method for the detection of trisomy 21 with similar performance compared to other programs. However, it needs to be offered to all pregnant women to have an impact on the incidence of Downs syndrome.

OC04.01: Screening for Down syndrome in the first trimester: the Stockholm experience of a new web‐based system

lesions detected by ultrasound followed by ultrasound guided core needle biopsy were compared with the final histological diagnosis. Results: see table below. PPV for suspicious lesions (BIRADS 4 + 5): 128 of 193(moderate and highly) suspicious lesions proved to be malignant. PPV: 0,66. The ratio for core needle biopsies (malignant/benign) is approximately 2 : 1. Conclusions: In our experience breast ultrasound as a first-line diagnostic tool has a good capacity in discriminating benign from malignant breast lesions. Applying the ACR BIRADS-atlas for breast lesions our results range well within the definitions of BIRADS-categories and compare similar or favorably to published sonographic studies and superior to most mammographic studies. Regarding suspicious findings no increase of unnecessary biopsies compared to mammographic screening could be proved.