Aktywne wspomaganie szlaku folianów- epigenetyczny wpływ choliny i witaminy B12 na rozwój ciąży

Adequate choline intake during pregnancy is essential for proper fetal development. Nowadays studies suggest that even in high income countries regular pregnant women diet does not provide the satisfactory amount of choline. Choline demand during pregnancy is high and it seems to exceed present choline intake recommendations. Moreover, lactation period also demands choline supplementation because of its high concentration in female milk. Numerous studies on animal model proved correlation between choline supplementation during pregnancy and proper fetal cognitive function development. Despite increased synthesis in maternal liver during pregnancy, choline demand is much higher than common dietary uptake. Nowadays studies as to the nutritional recommendations during pregnancy concern also vitamin B12 supplementation. Vitamin B12 deficiency may be an important risk factor of neural tube defects development. Presented article contains a review of data on proper choline and vitamin B12 uptake during pregnancy and lactation and potential results of choline and vitamin B12 poor maternal status.Dostateczna podaż choliny w diecie kobiety ciężarnej jest niezbędna dla optymalnego rozwoju płodu, prawidłowej funkcji łożyska oraz wątroby matki. Niestety badania wskazują na fakt, że nawet w krajach dobrze rozwiniętych dieta ciężarnych jest zwykle zbyt uboga w cholinę. Zapotrzebowanie w czasie ciąży jest wysokie i wydaje się przekraczać obecne zalecenia spożycia. Liczne badania przeprowadzone na modelu zwierzęcym dowiodły korelacji między przyjmowaniem choliny w okresie ciąży a poprawą funkcjonowania hipokampa, osiąganiu lepszych wyników w testach dotyczących oceny pamięci, uwagi oraz orientacji przestrzennej u potomstwa. Endogenna synteza choliny jest niewystarczająca dla pokrycia potrzeb rozwijającego się płodu. Dlatego też, mimo zwiększonej zdolności do syntezy endogennej choliny w czasie ciąży, zapotrzebowanie przewyższa przeciętną podaż w diecie. Aktualne rozważania na temat zaleceń żywieniowych u kobiet ciężarnych dotyczą również dodawania syntetycznej formy witaminy B12 do suplementów zawierających kwas foliowy. Wynika to z faktu, że niedobory tej witaminy mogą być ważnym czynnikiem zwiększającym ryzyko występowania wad cewy. Szacuje się, że częstość występowania WCN w przypadku niedoboru witaminy B12 może wzrastać nawet 5-krotnie. Poniższy artykuł zawiera przegląd danych dotyczących prawidłowej podaży choliny i witaminy B12 w czasie ciąży i laktacji oraz potencjalne skutki ich niedoboru

Bliźnięta syjamskie – diagnoza prenatalna I trymestru ciąży. Analiza przypadku oraz przegląd literatury

Conjoined twins are a unique type of monozygotic twins. All monozygotic twins should be thoroughly evaluated for incomplete separation and, if incomplete separation is diagnosed, the extent of internal organ connection and the presence of additional developmental anomalies of the foetuses should be assessed. Common heart of foetuses is particularly difficult to diagnose and crucial for prognosis. We present an example of female thoracoomohalopagus twins with a common triventricular heart, connate livers, and joined hepatic vessels, diagnosed in week 12 of pregnancy. Due to the high complexity of foetal connection, separation was not possible and following interdisciplinary consultation, the pregnancy was aborted upon the patient’s request in week 16.Bliźnięta nierozdzielone stanowią unikalny typ bliźniąt monozygotycznych. Wszystkie bliźnięta monozygotyczne winny być wnikliwie ocenione w kontekście ich niecałkowitego rozdzielenia, a w sytuacji postawienia takiej diagnozy należy ustalić rozległość zespolenia narządów wewnętrznych oraz obecność dodatkowych anomalii rozwoju płodów. Szczególnie trudną diagnostycznie oraz kluczową w kategoriach rokowania jest sytuacja wystąpienia wspólnego serca płodów. Prezentujemy przypadek bliźniąt płci żeńskiej typu thoracoomphalopagus, ze wspólnym, trójkomorowym sercem, zrośniętymi wątrobami oraz połączonymi naczyniami wątrobowymi rozpoznany w 12 tygodniu ciąży. Z powodu wysokiego stopnia złożoności połączenia płodów operacja rozdzielnia bliźniąt nie była możliwa i po interdyscyplinarnej konsultacji ciąża została na prośbę pacjentki zakończona terminacją w 16 tygodniu

The relevance of IL-1β and IL-1RN gene polymorphisms in the etiology of preterm delivery in the population of Polish women

Objectives: Preterm delivery (PTD) is one of the important challenges for perinatal medicine due to prematurity and associated complications. The mechanisms leading to the PTD occurrence are not fully clarified and it is assumed that PTD is a complex phenomenon caused by many different pathophysiological factors. Nowadays, an important role is attributed to genetic determinants of PTD, pointing to possible relevance of polymorphic variants of candidate genes to participate in the etiology of PTD. The aim of the study was to assess the relevance of +3953C > T IL-1β and 86 bp VNTR IL-1RN gene polymorphisms in the etiology of PTD in Polish women.  Material and methods: Study group consisted of 150 women (mean age 29.2 ± 5.6 years, mean weeks of gestational age 33.7 ± 2.8 gw.) with preterm delivery (22 + 0 – 36 + 6 gw.). To the control group 150 healthy pregnant women (mean age 29.0 ± 3.7 years, mean weeks of gestational age 39.3 ± 1.2 gw.) who delivered > 37 gw. were enrolled. All investigated polymorphisms were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).  Results: The interesting observation was the notice of overrepresentation of 2/2 genotype of IL-1RN gene in the control group (8.0 vs. 3.3%, p = 0.06) and 2 allele in the control group (25.0 vs. 20.0%, p = 0.07).  Conclusions:  The +3953C > T polymorphism of IL-1β gene probably is not connected with the risk of preterm delivery.  The study results points to the possible modulating effect of mutated IL-1RN* 2 allele (86 bp VNTR polymorphism) of IL-1RN gene in decreased risk of preterm delivery.

Zakażenie wewnątrzowodniowe — nadal więcej pytań niż odpowiedzi

Wystąpienie zakażenia podczas ciąży wiąże się z wieloma niekorzystnymi konsekwencjami dotyczącymi stanu płodu, noworodka oraz kobiety ciężarnej. W artykule przedstawiono aktualne wyniki badań i najnowsze sposoby terapii dotyczące zakażenia wewnątrzowodniowego

Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy

We present a case of a 33-year-old pregnant woman who had a transvaginal ultrasound performed at week 9 of gestation. A dichorionic diamniotic twin pregnancy, with symmetrically developing fetuses, was confirmed. Chromosomal defect markers (NT, NB, DV, TV) were analyzed in the first genetic test, performed according to the Fetal Medicine Foundation (FMF) criteria, and the double marker test was performed (PAPP-A protein and free beta-hCG concentrations in patient serum were determined). In the subsequent diagnostic procedures, the patient was offered and consented to amniopuncture after week 15 of gestation. The material obtained in the course of that invasive procedure allowed to identify a normal male karyotype – 46, XY in the first fetus (Fetus I). Cytogenetic analysis of the material from the second fetus (Fetus II) resulted in the diagnosis of an abnormal female karyotype – 47, XX, +21. Based on the analyzed clinical case, we present the difficulties of performing prenatal diagnosis in a dizygotic twin pregnancy. The results prove the applicability and efficacy of prenatal diagnostics tests based on the FMF criteria also in twin pregnancies

The significance of genetic factors in aetiology of preterm delivery

The high prevalence of preterm delivery (PTD) (7,2 to 8,4% in Poland) may suggest that much more attention should be paid to the early detection, as well as prevention, of this condition. Spontaneous preterm birth is a multifactoral disease, with possible genetic and environmental determining factors. Genes of cytokines modulating the immunological answer, genes of metalloproteinases and genes of coagulation cascade and fibrinolysis may have a significant involvement in the development of PTD. Population studies conducted so far comprise exact, individual evaluation of risk factors in women with tendency to PTD and have indicated a genetic susceptibility to PTD occurrence. Another direction of research is the investigation of candidate genes which are directly or indirectly involved in the biochemical pathways related to the disease. Current studies allow to define several candidate genes predisposing to PTD. The next step is the family molecular analysis of candidate gene polymorphisms both: in women with burdened anamnesis and first and second degree relatives (mothers, grandmothers, sisters). Numerous studies, besides the individual genetic predisposition, focus on the possible gene-environmental interactions and their role in the development of PTD. In this manuscript we have summarized the current researches of genetic basis of preterm delivery

Genetic background of preeclampsia

Population studies have been suggesting genetic predisposition to the appearance of preeclampsia (PE) for a considerable period of time now. In familial occurrence of the disease higher frequency of preeclampsia has been observed in mothers, daughters and sisters of women burned of this poor medical history and higher risk to severe PE development. Although a single gene may contribute to the development of the patomechanizm of PE, most authors focus on the analysis of the common influence of candidate genes which are involved in a series of pathophysiological processes of PE. Thus, PE is often believed to be the final phenotype (increase of blood pressure and multiorgan complications development), being the result of intermediate phenotypes acting at the same time and being modulated by environmental factors. PE belongs to the complex human disease. The results of the findings connected with the contribution of maternal, paternal and fetal genotypes in PE development remain unclear, though a stronger influence of maternal genes, with a weaker influence of those transferred from the father, may be observed . Despite the existing divergences (the findings on the genetic background of PE are in conflict, no doubt due to the population differences and small number of investigated groups), the results obtained so far stress the necessity to discover the genetic risk factors as it may do both: facilitate the identification of groups of women predisposed to preeclampsia and allow for an early prophylactic administration

The significance of TNF-α gene polymorphisms in preterm delivery

Introduction: Nowadays the strong genetic background of preterm delivery (PTD) in connection with immune answer has been indicated. The purpose of the study was the assessment of frequency of TNF-α -238G>A, -308G>A, -376G>A gene polymorphisms in the etiology of preterm delivery. Material and methods: The study group consisted of 150 women with PTD (22+0 - 36+6 gw.), the controls of 150 women who delivered at term (>37 gw.). PTD group was divided into subgroups: a/ delivery between 22-28 gw., b/ 28-32 gw., and c/ 32-36+6 gw. Genetic analysis was performed by PCR/RLFP method. Results: Overrepresentation of -238GA genotype (12.7 vs. 4.7%, p=0.011) and -238A allele (7.7 vs. 2.3%, p=0,002) in PTD group has been observed. In PTD 28-32 gw. subgroup, higher frequency of -238GA genotype (31.6 vs. 4,7%, p=0.00095), and mutated -238A allele (21.1 vs. 2.3%, p=0.00004) was noted. Moreover in PTD 28-32 gw. subgroup we have noted higher presence of heterozygous -376GA genotype (10.5 vs. 1,3%, p=0,063) and mutated -376A allele (5.3 vs. 0,7%, p=0.064). Analysis of TNF-α polymorphisms co-occurrence showed statistically significant overrepresentation of genotypes containing mutated -238A allele in PTD group (-238GA/-308GG/-376GG: 8.0 vs. 2,7%, p=0.035). Haplotype analysis revealed statistically significant difference between PTD and controls in the incidence of -376G/-308G/-238A haplotype containing mutated -238A allele (0.063067 vs. 0.016634, p=0.030).Conclusion: The study indicated the strong association of mutated -238A allele of TNF-α gene with increased risk of PTD. Analysis of genotypes and alleles prevalence in PTD women divided according to gestational age suggests the possible role of mutated variants of -238G>A and -376G>A TNF-α polymorphisms in Polish women delivering between 28 and 32 gw

The role of 401A>G polymorphism of methylenetetrahydrofolate dehydrogenase gene (MTHFD1) in fetal hypotrophy

Introduction: Important role is attributed to genetic polymorphisms influencing enzymatic activity in folate metabolism. These inherited genetic variants may influence fetal growth and fetal hypotrophy development. The aim of the study was to investigate the connection of 401A>G polymorphism of methyleneterahydrofolate dehydrogenasegene (MTHFD1) with increased risk of fetal hypotrophy. Material and methods: To the study group 120 women who delivered children with fetal hypotrophy and to the control group 120 healthy women were enrolled. Study group was divided into subgroups according to gestational age at delivery (52 patient