Autism is a heterogeneous neurodevelopment disorder that can reveal impairments in social interactions, communication, and behavior. This paper aims to review the current understanding of the etiologies and the multiple pathogenetic pathways that are likely to lead to the autistic phenotype. Multiple studies evidence that most cases of autism likely have an underlying genetic cause or predisposition. Just as mental retardation, autism is likely to be caused by many different genetic mechanisms and genes rather than a single, or few, major genes or environmental effects. Applying routine genetic testing in clinical (CLIA-certified) diagnostic laboratories it's possible to identify the specific etiology and recurrence risk in 10% to 15% of autism cases and is clinically indicated for any child with autism. In this study we report 5 cases with different genetic syndromes in which autism has been described as one of the possible manifestations: Down syndrome, 22q13 deletion, “cri du chat” syndrome - 5p15 deletion, Cornelia de Lange syndrome, Sotos syndrome.

The effect of temperature fluctuation on spindle integrity and chromosomal organisation in the human oocyte, and the consequences of such effects on the chromosomal constitution of resulting parthenotes, were investigated. A total of 340 oocytes were stained immunocytochemically with an antibody to α-tubulin, and 502 were activated parthenogenetically. Exposure of oocytes to room temperature for 2, 10 or 30 min caused disruption of the spindle in 77%(n = 26),72%(n = 18) and 89% (n = 19) of cases respectively, with evidence of chromosomal dispersal in 50%,56% and 52.6% respectively. These effects were reversed when oocytes were returned to 37°C after exposure to room temperature for 2 min, but not after 10 min or 30 min: Temperature reduction affected rates of parthenogenetic activation of oocytes (2 min: 67%, n = 27; 10 min: 68%, n = 28; 30 min; 54%, n = 35) and cleavege of resulting parthenotes, but only if oocytes were exposed to room temperature for 30 min (30 min: 53%, n = 19).There is a direct association between temperature-induced spindle damage in the oocyte(70%, 50 of 63) and chromosomal abnormalities in parthenotes developed from oocytes exposed to room temperature (56%,23 of 41; P < 0.01).

Objectives: Previously in Finland, each municipality selected which methods to use in screening for fetal abnormalities. This resulted in practice variation and inequity. The national health technology assessment (HTA) office Finohta compared the methods and time frames available when screening for chromosomal and structural abnormalities. The assessment identified a need to discuss several value-laden questions before policy decisions could be taken.

Methods: The National Screening Committee (NSC) at the Ministry of Health and Social Affairs (MOH) formulated a statement based on the HTA report to inform policy makers. This article describes the steps in the policy process.

Results: The national screening committee organized an open forum to discuss the ethically relevant aspects of fetal screening, and a lengthy public discussion highlighted the viewpoints of various stakeholders. Based on the assessment, public discussion, and several committee meetings that heard further experts, the NSC formulated a conclusion based on equity of access. This also offered options for families unwilling to terminate a pregnancy due to fetal abnormality. The MOH sent the conclusion to a comment round, and the proposal was accepted with minor adjustments. The Ministry decided to unify the regulation of all public screening programs by one statute. The policy process lasted three years, and the methods to screen for fetal abnormalities will be unified after a further 3 years.

Conclusions: The assessment of screening programs for fetal abnormalities reached beyond its original mandate. The process of examining values behind screening resulted in a program that respects the differing objectives and ethical values of pregnant families, and to national legislation on screening programs.

Embryonic loss occurring in the first week of the incubation is termed early embryonic mortality. Environmental, technological and genetic factors can be responsible forits appearance. The examination of genetic background of embryonic death is justified when the breeding and hatching technological parameters are optimal. Disposition of early embryonic mortality can be inherited and it can accumulate in a stock, which will finally deteriorate its fertility indices. Although the heritability value of reproductiveness is poor, h2=0.1−0.2, even so, during the selection still should be considered. This paper offers a short review on the special features of early embryonic development in poultry and examination methods forpossible genetic background of early embryonic abnormalities and mortality. The application of cytogenetical and embryological methods may be of major relevance in the improvement of the reproduction traits of poultry species.