Syftet med studien är att undersöka hur en population av potentiellt blivande föräldrar i åldrarna 20-40 år önskar att handläggning av informationen kring ultraljudsmarkörer bör se ut. Studien utformades som en pilotstudie med bekvämlighetsurval, och en enkät med parametrar fördelade på 11 scenarion utarbetades. Enkäten delades ut på föreläsningar i och omkring Stockholm i april 2012. 49 kvinnor och 36 män deltog i undersökningen. Potentiellt blivande föräldrar vill ofta få information om upptäckta softmarkers. Dock svarar en betydande del av försökspersonerna att de för vissa scenarion inte vill ta del av all tillgänglig information. Flest vill ha information vid obotliga tillstånd och när markören sitter i fostrets hjärna eller hjärta. De scenarion där flest svarar att de inte vill bli informerade är då markören sitter i fostrets tarm eller skelett samt när tillståndet är bortbart. Signifikanta skillnader uppmättes mellan olika gruppers svar. Kvinnor svarar oftare än män att de inte vill ha information om funna softmarkers. Detsamma gäller för sambos/gifta när man jämför dem med de som är singlar. De som hade barn vill oftare inte veta om att en softmarker har upptäckts jämfört med de som inte har barn. / The aim of the study was to investigate how potential new parents aged 20-40 would prefer the information about soft markers to be handled. The study was designed as a pilot study, and a questionnaire was made with parameters divided into 11 scenarios. The questionnaire was handed out at lectures in the Stockholm area in April of 2012. Answers were analyzed in SPSS with chi-2 tests. 49 women and 36 men participated in the study. Potential new parents often wish to be informed of discovered soft markers. However, a significant portion of the participants say they prefer not to know about soft markers in their foetus in some scenarios. Scenarios where the condition is incurable or where the soft marker is placed in the brain or heart of the foetus are the ones where the most people say they want the information. A soft marker placed in the foetus’ intestines or skeleton is when the most people answer that they do not wish to recieve this information. Significant differences are seen between different groups. Women more often than men say they do not want information about a discovered soft marker. The same is true for those who are married or cohabitating when compared to singles. Those who are already parents want information about a soft marker to a lower degree than those who do not have children.

Several avenues of investigation through which the 'labyrinths' of schizopsychotic diagnosis may be examined, are offered by the consideration of the 'beacons' of symptom-profiles and biomarkers. Neurodevelopmental issues and risk assessment, neurocognitive factors of predictive necessity, supersensitivity in neurotransmitter systems, the implications of prodromal expressions of the disorder, functional dysconnectivity arising from prefrontal to diverse regional patterns and circuits with a neurodevelopmental origin, and heritable gene characteristics are viewed against the backdrop of the schizophrenia spectrum disorders. The associations between adolescent-adult use of cannabis, on the one hand, and, alternatively, the prevalence of chromosomal abnormalities, e.g., GRIK4 and NPAS3, and mental retardation, on the other hand, with the symptom-profiles of schizopsychosis provide further evidence of emerging biomarkers of biological inheritance factors. The involvement of dopamine D1 and D2 receptors, particularly in prefrontal region, with regard to functional integrity of cognitive systems is reviewed. It would appear that considerations of these disorders imply that one essential hub around which much of the neuropathology revolves may be observed in the various expressions of the cognitive and structural insufficiency.

Chromosomal aberrations are common causes of abnormal development of fetuses leading to the birth of malformed indvidual or to the intrauterine death. Half of miscarriages in the first trimester and a third in the second trimester are caused by fetal chromosomal abnormalities, mainly aneuploidies. If fetus is abnormally developed, invasive prenatal cytogenetic diagnosis should be recommended. Positive cytogenetic finding can be reason for induced abortion till the end of 24th week of gestation. We investigated 81 miscarriages, 46 fetuses from induced abortions and 80 fetuses with abnormal development from ongoing pregnancies. G-banding analysis was used as the main method for investigating miscarriages. Genomic DNA isolated from abnormally developed fetuses was screened by array CGH technique. We found 43,75 % chromosomal abnormal miscarried fetuses, majority of them with numerical aberrations (91,4 %). In group of induced abortions, 25,71 % fetuses carried chromosomal abnormality. The lowest rate 11,67 % of chromosoal aberrations was detected in group of prenatally diagnosed fetuses from ongoing pregnancies. Array CGH detected submicroscopic aberrations in 13,41 % fetuses with ultrasound findings. All together 25,74 % microscopic and causal submicroscopic chromosomal abnormalities were found to be...