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Objective To evaluate the efficacy of first trimester combined screening for Down's syndrome in Northern Finland during the first 10 years of practice. Methods During 1 January 2002 to 31 December 2011, 47,896 women participated voluntarily in combined screening during first trimester. The risk cutoff was 1:250. The study period was divided into two time periods; 2002-2006 and 2007-2011. Results During the first half of the study period, the detection rate (DR) was 77.3% with a 4.9% false-positive rate (FPR). During the latter half, the DR was 77.1% with a 2.8% FPR. Conclusions An important issue is the number of invasive procedures needed to detect one case of Down's syndrome. The screening performance improved markedly in the latter five years period since the FPR lowered from 4.9% to 2.8% and the number of invasive procedures needed to detect one case of Down's syndrome lowered from 15 to 11.

A study of the dominant epidermolysis bullosa (EB) revealed a G to A transition at nucleotide 6118 in the triple helical domain of COL7A1, which resulted in a conversion of glycine residue to a serine. This mutation occurred in the seventh of a series of 24 uninterrupted Gly-Xaa-Yaa repeats between interruptions 11 and 12 of the triple helix. EB belongs to a group of mechanobullous diseases.

Objective: To evaluate the performance of first trimester biochemical markers, pregnancy-associated plasma protein-A (PAPP-A), free beta human chorionic gonadotropin (fβ-hCG), and nuchal translucency (NT) in detection of severe congenital heart defects (CHDs). Methods: During the study period from 1 January 2008 to 31 December 2011, biochemical markers and NT were measured in 31,144 women as part of voluntary first trimester screening program for Down's syndrome in Northern Finland. Data for 71 severe CHD cases and 762 controls were obtained from the hospital records and from the National Medical Birth Register, which records the birth of all liveborn and stillborn infants, and from the National Register of Congenital Malformations that receives information about all the CHD cases diagnosed in Finland. Results: Both PAPP-A and fβ-hCG multiple of median (MoM) values were decreased in all severe CHDs: 0.71 and 0.69 in ventricular septal defects (VSDs), 0.58 and 0.88 in tetralogy of Fallot cases (TOFs), 0.82 and 0.89 in hypoplastic left heart syndromes (HLHSs), and 0.88 and 0.96 in multiple defects, respectively. NT was increased in all study groups except of VSD group. ROC AUC was 0.72 for VSD when combining prior risk with PAPP-A and fβ-hCG. Adding NT did not improve the detection rate. With normal NT but decreased (<0.5 MoM) PAPP-A and fβ-hCG odds ratios for VSD and HLHS were 19.5 and 25.6, respectively. Conclusions: Maternal serum biochemistry improves the detection of CHDs compared to NT measurement only. In cases with normal NT measurement but low concentrations of both PAPP-A and fβ-hCG, an alert for possible CHD, especially VSD, could be given with thorough examination of fetal heart in later ultrasound scans. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the performance of first-trimester measurement of fetal nuchal translucency (NT) in the detection of severe congenital heart defects (CHDs).Methods: During the study period of 1 January 2008 - 31 December 2011, NT was measured in 31,144 women as a part of voluntary first-trimester screening program for Down's syndrome in Northern Finland. NT was measured by personnel trained on the job by the experienced staff. No certification or annual audits are required in Finland. However, the recommendation is that the examiner should perform 200 scans on average per year. Severe CHD was classified as a defect requiring surgery in the first year of life or a defect that led to the termination of the pregnancy. All severe CHDs diagnosed during the study period in Northern Finland could not be included in this study since all women did not participate in the first-trimester screening and some cases were missing important data.Results: Fourteen (17.7%) out of 79 severe CHDs were found with NT cutoff of 3.5 mm. Amongst the 79 severe CHD cases, there were 17 chromosomal abnormalities. With NT cutoffs of 2.0 and 1.5 mm the detection rates would have increased to 25.3% (n = 20) and 46.8% (n = 37). Using a randomly selected control group of 762 women with normal pregnancy outcomes, false positive rates (FPRs) were calculated. For NT cutoffs of 1.5, 2.0 and 3.5 mm, the FPRs were, 18.5, 3.3 and 0.4%, respectively.Conclusions: A greater than 3.5 mm NT measurement in the first-trimester ultrasound is an indication to suspect a fetal heart defect but its sensitivity to detect severe CHD is poor. In our study, only 17.7% of severe CHDs would have been detected with an NT cutoff of 3.5 mm. [ABSTRACT FROM AUTHOR]

With serum screening (MS-AFP and hCG testing for Down's syndrome) women have to make several decisions in a limited time: whether to participate in the screening in the first place; then, if increased risk for fetal abnormality is detected, whether to have a diagnostic test, and finally, what to do if fetal abnormality is detected. The aim of this study was to examine how women themselves in an unselected population describe their decision-making in the different phases of serum screening. Women receiving a positive result from serum screening in two Finnish towns from September 1993 to March 1994 and a group of individually matched controls were invited to semistructured interviews; 45 index and 46 control women (79% of those invited) participated between their 29th and 37th weeks of gestation (mean 31 weeks). Although serum screening was most often presented as voluntary or as an option, half the women described participation as a routine or self-evident act; only one-fourth of the women described actively deciding about participation. After a positive screening result, women's reactions to diagnostic tests, and their intentions if disability would be detected, varied greatly. Most of the women actively decided about having diagnostic tests, but for 23% participation in diagnostic testing was called a self-evident act. Women's intentions regarding abortion varied from a firm decision to abort to a firm decision not to abort, and many remained ambivalent. Prenatal screening, which demands the making of several decisions in a limited time and is offered to all pregnant women as part of established maternity care, is not based on every participant's active decision-making and thus creates an ethical problem. This problem should receive special attention from those who develop, introduce and decide on new health care practices. Key words - prenatal screening, pregnancy decisions