Because the fetus is lost in a great proportion of trisomy 21 pregnancies, both maternal and fetal, not only live-born MTHFR C677T and A1298C, as well as maternal nutrition and lifestyle during pregnancy, should be analyzed to asses the impact on CHD in DS.

Down syndrome (DS, also known as trisomy 21) most often results from chromosomal nondisjunction during oogenesis. Numerous studies sustain a causal link between global DNA hypomethylation and genetic instability. It has been suggested that DNA hypomethylation might affect the structure and dynamics of chromatin regions that are critical for chromosome stability and segregation, thus favouring chromosomal nondisjunction during meiosis. Maternal global DNA hypomethylation has not yet been analyzed as a potential risk factor for chromosome 21 nondisjunction. This study aimed to asses the risk for DS in association with maternal global DNA methylation and the impact of endogenous and exogenous factors that reportedly influence DNA methylation status. Global DNA methylation was analyzed in peripheral blood lymphocytes by quantifying LINE-1 methylation using the MethyLight method. Levels of global DNA methylation were significantly lower among mothers of children with maternally derived trisomy 21 than among control mothers (P = 0.000). The combination of MTHFR C677T genotype and diet significantly influenced global DNA methylation (R2 = 4.5%, P = 0.046). The lowest values of global DNA methylation were observed in mothers with MTHFR 677 CT+TT genotype and low dietary folate. Although our findings revealed an association between maternal global DNA hypomethylation and trisomy 21 of maternal origin, further progress and final conclusions regarding the role of global DNA methylation and the occurrence of trisomy 21 are facing major challenges.

Aim To assess whether imminent amniocentesis is associated with the perception of increased stress and state anxiety in women and their partners and whether greater partner's involvement during pregnancy alleviates women's stress and anxiety.Methods Two hundred twenty women awaiting amniocentesis and 90 male partners participated in the study. The State-Trait Anxiety Inventory, Perceived Stress Scale, and Partner's Involvement in Pregnancy Scale were administered. Statistical analysis was performed using t test, one way ANOVA, and Pearson correlation test.Results Imminent amniocentesis caused increased stress (17.6 ± 6.8; t = 7.32, P < 0.001) and anxiety (42.0 ± 11.9; t = 8.51, P < 0.001) in pregnant women, but not their partners (stress: 14.3 ± 6.1; t = 0.17, P = 0.862; anxiety: 36.4 ± 10.40; t = 0.66, P = 0.510). Stress was even more pronounced in women who experienced another stressor, like unplanned pregnancy, prenatal-related nausea and vomiting, or chromosomal aberration in a previous pregnancy. Significant negative correlation was found for women's stress and their perception of their partner's involvement during pregnancy (r = -0.23; P = 0.001); the same was not found for women's anxiety.Conclusion Greater partner's involvement during pregnancy could diminish women's stress, but elevated state anxiety just before amniocentesis could not be alleviated in the same way. Thus, health care professionals must pay greater attention to the psychological status of women undergoing amniocentesis to help them better cope with the situation.

An investigation of body height and cephalic measurements was performed among five groups of first-year medical students of the University of Rijeka School of Medicine (Rijeka, Croatia). Body height and different cephalic measurements showed normal distribution, both in male and female students. Differences between measured variables were statistically analyzed by ANOVA. No significant difference with regard to year of birth was found in either males or females. The cephalic index showed no statistically significant difference between sexes or with regard to body height, while head breadth and length correlated significantly with birth year and body height, both in males and females. Head breadth decreased within the study period, while head length increased. Results were compared with those of similar studies from the mid-20th century. Student's t-test showed a significant change of cephalic indices and other head measurements, but not of body height, in males. The frequency difference between various head shapes was tested using the chi-square test. A significant increase of dolichocephalic and mesocephalic and a significant decrease of brachycephalic head shape were found in both sexes. These results suggest a continuity of the debrachycephalization process observed in our population at the past midcentury.

The aims of the present study were to assess (1) the parental origin of trisomy 21 and the stage in which nondisjunction occurs and (2) the relationship between altered genetic recombination and maternal age as risk factors for trisomy 21. The study included 102 cases with Down syndrome from the Croatian population. Genotyping analyses were performed by polymerase chain reaction using 11 short tandem repeat markers along chromosome 21q. The vast majority of trisomy 21 was of maternal origin (93%), followed by paternal (5%) and mitotic origin (2%). The frequencies of maternal meiotic I (MI) and meiotic II errors were 86% and 14%, respectively. The highest proportion of cases with zero recombination was observed among those with maternal MI derived trisomy 21. A higher proportion of telomeric exchanges were presented in cases with maternal MI errors and cases with young mothers, although these findings were not statistically significant. The present study is the first report examining parental origin and altered genetic recombination as a risk factor for trisomy 21 in a Croatian population. The results support that trisomy 21 has a universal genetic etiology across different human populations.