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The aim of this study was to estimate the prevalence of factor V Leiden and prothrombin gene G20210A mutation among women with pregnancy loss in Poland.we analyzed a group of 396 women (mean age of 30.4 (+/- 4.6) years), who experienced at least one pregnancy loss. Patients were recruited from 6 academic centers (Poznań, Białystok, Lublin, Wrocław Bydgoszcz, Gdańsk), and were divided into the following groups: 122 patients with 3 episodes of early recurrent pregnancy loss (group 1), 87 patients with late pregnancy loss (group 2) and 46 patients with intrauterine pregnancy loss (group 3). Patients who did not fulfill the above inclusion criteria were divided into additional groups. 50 healthy women (mean age of 29.2 (+/- 4.5) years), having at least one child, constituted the control group. Factor V Leiden mutation and prothrombin G20210A gene mutation were examined in all 396 women with pregnancy loss and 50 controls. For molecular analysis peripheral blood was tested. Genome DNA isolation from lymphocyte was performed with commercial assay QIAampDNA Blood Mini Kit.Among 396 women with unexplained loss of at least one pregnancy 36 (9.1%) were carriers of inherited thrombophilia. Factor V Leiden mutation was present in 29 women (73%), prothrombin gene mutation G20210A in 6 (1.5%) and in 1 (0.3%) patient both mutations were detected. No coagulation defects were found in the control group. Factor V Leiden mutations was the most common disorder (21.7%) in patients with intrauterine demise and was significantly higher than in the group of women with early recurrent and late losses, p0.011 and p0,006 respectively The frequency of G20210 A prothrombin gene mutation did not differ substantially between the examined groups; the highest number (2.6%) was found in women with early and late pregnancy losses, and the lowest number (0.8%) was seen in women with early recurrent miscarriages.Factor V Leiden screening should be performed, regardless of negative history of thrombosis, in patients who experienced intrauterine fetal demise or recurrent early miscarriages.

The aim of the study was the analysis of antiphospholipid syndrome frequency in Polish women with pregnancy loss.We analyzed 352 women with average age of 31.4 (+/- 4.3) who experienced one or more pregnancy losses. Patients from 5 University centers: Poznań, Białystok, Lublin, Wrocław and Bydgoszcz were divided into 3 groups. In the 1st group there were 150 women with recurrent early pregnancy losses before 10 weeks gestation, in the 2nd group we included 160 women with late pregnancy losses, in the 3rd group we analyzed 42 women with labor complicated by preeclampsia or placental insufficiency within or before 34 gestational week. All 352 women were screened for the presence of anticardiolipin antibodies (aCL), anti beta2glikoprotein I (abeta2GPI) and lupus anticoagulant (LA). The first two antibodies were investigated with ELISA test and the last one with APPT based test. Only the second positive result qualified patients as antiphospholipid antibody (aPL) positive. Antibodies against cardiolipin and beta2glicoprotein I were analyzed in three classes--IgA, IgG and IgM--where the laboratory criteria of positivity were titers above 40 unitsU/ml or above 99 centile.13 patients (3.69%) in the screened population of 352 women met the criteria of the antiphospholipid syndrome. The frequency of APS in women with early and late pregnancy losses were 1.33% and 6.25%, respectively. The most common antibody found was lupus anticoagulant (LA). In 3 women with late pregnancy loss all three antibodies were found. In women with premature deliveries complicated with preeclampsia and/or placental insufficiency the frequency of APS was 2.58%.1. Screening of antiphospholipid syndrome should be routinely performed in women with late pregnancy loss 2. We can conclude that APS is rarely found in women with pregnancy loss before 10 gestational week.

Holoprosencephaly is a brain malformation caused by abnormal division of the forebrain into two separate hemispheres. Abnormal structures of the central nervous system often occur with other midline forebrain and face failures. In this report we present a case of a prenatal diagnosis of holoprosencephaly.

Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10,000 births. In the following report we have described a prenatally diagnosed case of recurrent thanatophoric dysplasia in the same patient.

History of cigarette smoking started on XV century, when Columb imported tobacco to Europe. Popular using of tobacco we are indebted Jaen Nicot Villeman, the name of nicotine originate from his surname. Tobacco first was exploited like a drug, however now it is a very harmful stimulant. Cigarette smoking is still an actual problem and increased risk of many diseases. Very toxic components of smoke get inside all the organs and upsetting their activities and proper running of the life processes. It is common knowledge that smoking badly influences women's health. Nicotine makes the negative influence on function of ovaries metabolism of hormones and state of osseous tissue. Maternal smoking during pregnancy is associated with obstetrical and pediatrician complication with fetus, newborn and child. The aim of the article is to summarize the role of tobacco smoking on women's health.

Smith-Lemli-Opitz syndrome (SLOS) is a hereditary, autosomal recessive abnormality of cholesterol metabolism, leading to malformations of multiple organs. It is probably one of the most frequent metabolic disorders but variable clinical presentation makes the diagnosis of the syndrome difficult. The authors of the following work present a case report of prenatal diagnosis of SLOS in fetus with malformations of multiple organs and negative family history.

A lack of offspring caused by sterility of one or both partners is an increasing social problem that concerns 10-19% of couples. This percentage is even higher if we take into consideration those couples who cannot have healthy offspring in spite of being able to conceive a baby. The aim of the paper was to analyze the awareness of the effect of smoking on reproductive failures in couples with infertility or habitual abortions, and in couples experiencing miscarriages and having a child or children with congenital defects. The couples underwent cytogenetic, and in some cases, molecular analysis in the Genetic Outpatient Clinic at Dr. A. Jurasz University Hospital in Bydgoszcz.The studied group consisted of 201 couples. In the medical documentation analysis the following aspects were taken into consideration: the patient's age, family history, genetic determinants, infections, environmental and occupational factors, which might have caused reproductive failures in the examined couples.26.4% of women admitted cigarette smoking, they most often represented the group of couples having a child born with defects; 46.8% of men admitted smoking and they most often represented the group of couples that experienced habitual abortions.Although it is obvious that cigarette smoking during gestation period is extremely harmful to the mother and the fetus and may significantly contribute to reproductive failures, public awareness of this problem is still insufficient and smoking habit is unfortunately widespread among pregnant women.

It is common knowledge that smoking badly influences women's health. Nicotine addiction does not only increase the risk of cancerous diseases, blood circulation and coronary system disorders as well as osteoporosis, but also it can cause disorders of the menstrual cycle, infertility and earlier menopause. One hundred and seven patients took part in the research and attended the women's clinic (Clinic "K"). On the basis of the questionnaire, some data was assessed: demographic data, frequency and type of menstrual cycle disorders, fertility and age of menopause occurrence. A group of smoking women (36.05%) was distinguished and non-smoking women (63.95%). A higher percentage of menstrual cycle disorders was noticed in a group of smoking women (p0.05). The most frequent symptoms were painful period, painful breasts and premenstrual tension. No significantly statistical difference was stated in frequency of menstrual cycle depending on the amount of smoked cigarettes and addiction duration. The main decisive factor of giving up smoking is the awareness of the harmfulness of nicotine addiction.

The influence of maternal smoking on the higher miscarriage rate, premature births and premature detachment of the placenta was proved in numerous so far undertaken medical researches. Apart from that smoking has an influence on fetal developmental retardation, low birth weight as well as the baby's abnormal development. The investigated population comprised of 100 healthy women that gave birth to their children after the 37th week of pregnancy and their newborns. The pregnant women's morphology parameters, the newborns' health (after the third minute of life according to the Apgar's scale) and the birth weight were assessed. The results achieved were analysed taking into consideration the problem of maternal smoking. The lower Apgar's notes as well as lower birth weight of the newborns whose mothers used to smoke during pregnancy were observed. The fact of being pregnant is the most significant argument for women to give up or diminish the habit of smoking.

During the putative "implantation window", a period of maximal endometrial receptivity that spans 7-9 days after ovulation, a series of changes on the structural and molecular level occur that render the endometrium susceptible to implantation for the human embryo. Many members of the TGFbetas are expressed by human endometrium at different stages of menstrual cycle. Also studies regarding the MMP2 gene expression and activity of MMP2 in the implantation window have shown a higher expression and activity of MMP2 in women with impaired fertility. We have examined by RT-PCR the expression of TGFbeta2 and MMP2, MMP9 and TIMP1 in 28 patients with idiopathic infertility, 16 patients with unexplained recurrent miscarriage and 16 control women were enrolled in this study. Seven to nine days after ovulation endometrial biopsy by Pipelle or hysteroscopy was performed to assess the expression of TGFbeta2 , MMP2, MMP9 and TIMP1. We found that in endometria from women with idiopathic infertility TGFbeta2 expression was 2.8 fold higher than in endometria from control group and 2.1 fold higher in endometrial samples from women with unexplained recurrent miscarriage compared to the control group. The MMP2, MMP9 and TIMP1 expression in endometrial samples revealed no significant differences between the study groups and control group. There was a statistically significant negative correlation between TGFbeta2 and MMP9 expression in endometria from women in control group. The present investigations suggest that dysregulated TGFbeta2, MMP2, MMP9 and TIMP1 expression are associated with infertility and early pregnancy loss. However the exact mechanism of how overexpression of endometrial TGFbetaand MMPs interferes with implantation may be more complex.

To compare the efficacy of microlaparoscopy and laparoscopy in the assessment of pelvic region in infertile women.47 patients (aged 24-35) had microlaparoscopy and subsequent laparoscopy performed in order to diagnose the cause of infertility. Pelvic region assessment was performed in both procedures and the results were afterwards compared in regard to duration of the operations and findings reported by independent surgeons. The data was statistically analyzed using Statistica for Windows 5.1.There were no major differences in the assessment of the pelvic region and found abnormalities in the analyzed postoperative protocols. All the diagnosed abnormalities were described similarly by both surgeons; the differences referred only to subjectively evaluated sizes of findings. The assessment of the pelvic region during microlaparoscopy was fully satisfactory in all cases, none required earlier than scheduled conversion to laparoscopy. The duration of endoscopic procedures was calculated from the moment of trocars insertion into the peritoneal cavity. The average duration time of microlaparoscopic evaluation was 6'20"+/-45", while in laparoscopy - 3'40"+/-32" (p0.0001).Microlaparoscopy and laparoscopy are of similar efficacy in the assessment of small pelvis organs and in detecting pathological changes. Both procedures differ significantly only in regard to the duration.

In Poland 35% of women, 25% of them being in reproductive age, smoke cigarettes. Substances included in tobacco smoke have highly toxic properties. Their presence in the human organizm may affect immunological mechanisms which are an important element determining dynamic balance betwen the mother and the fetus. The aim of the article is to compare the level of AFP and circulating immune complexes (KKI) concentrations in smoking and non smoking pregnant women in the second trimester. The levels of immunological complexes in the women's sera were determined by means of the Elisa immuno-enzymatic method using DRG Instruments GmbH Germany tests. The levels and the properties of circulating immune complexes were estimated in sera of 27 women being in the second trimester of pregnancy by means of polyethylene glycol (PEG) precipitation test. Molecular weight of the proteins of CIC was studied by SDS/PAGE. In the group of smoking women AFP levers were higher and KKI levels were lower than in the non smoking women group.

The allergies of respiratory system are at children the frequent illnesses. Among favorable them factors, risk on passive smoking tobacco can be also. Passive smoking is defined as risk non-smoking on tobacco smoke in environment. Recent reports represent that smoking in home environment tobacco increase on passive smokers' asthma morbidity, especially children in school age. It in it was report the necessity of leadership of anti-nicotine education was underlined in the face of smoking parents. It bets that she should motivate she better parents to cessation smoking, using authority of doctor and love parental. Acting we decided with these principles to analyze effectiveness two year anti-nicotine education which be applied in the face of all treated smoking parents of children with reason of chronic allergic diseases of respiratory system in out-patients. The study comprised parents of 146 children at the Allergy out-Patients clinic, who were diagnosed and cured in years 2003-2005. Generally were 292 persons. The children be treated with reason of bronchial asthma and allergic rhinitis. It the data on subject of smoking of tobacco were collected was on basis of interview got from parents during visits at information bureau on beginning the treatment the children, in his track as well as after two years of education. The anti-nicotine education was applied by whole period of observation during routine medical visits. In moment beginning of treatment in studied group the parents' and education children (n = 292) it 79 the parents' couple did not smoke. Smoking parents among remaining 67 steams were. From among them parents 13 children smoked both, only father in 36 cases smoked and mother in remaining 18 parents' couple smoked. 80 parents smoked with generally. 63 persons after two years of anti-nicotine education the nonsmoking committed one from group smoking. 22 persons among them were from among 24 fathers and 17 mothers' peer in which smoked both parents. Remaining smoking and non-smoking parents granted that children tried to restrain to minimum stay in environment smoking. We on basis of received results to affirm that child's disease has on parents' behaviour essential influence can. It in child was affirmed was all analyzed situations characteristic decrease number with diseased child of smokers' families. Recapitulating anti-nicotine education of the children's parents diseased on chronic allergic diseases of respiratory system is very good restrictive agent their exposition on smoking the tobacco. Contemporaneously in effective way influences on decisions of adults about cessation smoking and the healthy style of life promotes.

The aim of the study was to compare tubal patency assessment during microlaparoscopy and laparoscopy and its compatibility with previously performed histerosalpingography (HSG).Endoscopic evaluation of tubal patency was performed on 135 women, aged 30-39 (microlaparoscopy in 65 cases, laparoscopy in 70). In the group of 42 patients qualified for endoscopy, histerosalpingography was carried out in the past. The duration of tubal patency assessment was counted from the moment of the salpingograph placement, with trocars already introduced into the peritoneal cavity.The mean duration of tubal patency evaluation during laparoscopy was 5'45"+/-39 and during microlaparoscopy - 7'30"+/-49". The results of the examination were afterwards compared with the results of previously performed HSG. Their sensitivity, specificity, compatibility and positive and negative predictive values were calculated. The sensitivity and specificity of microlaparoscopy in tubal patency assessment were 81% and 100%, respectively; its positive predictive value -100% and negative -96%. As to laparoscopy, the values were established at 90%, 100%, 100% and 98.4%, respectively.Tubal patency assessment during microlaparoscopy and laparoscopy is characterized by similar sensitivity and specificity. Although the mean duration of microlaparoscopy is significantly longer, the difference in time is of no practical implication.

About 10-15% of clinically diagnosed pregnancies end by spontaneous abortion. One of the causes of recurrent abortions is the presence of chromosome aberrations in a parent. The paper presents the results of cytogenetic investigations in 107 couples referred to genetic council clinic because of at least 2 spontaneous abortions. Cytogenetic analysis was performed on peripheral blood lymphocytes after standard 72h PHA-stimulated culture. At least 20 GTG- and CBG-banded metaphases were analyzed in each patient. Fluorescence in situ hybridization technique was used as to precisely define cytogenetic results. Chromosome aberrations were found in 7 couples (6.54%), exclusively in women. Numerical aberration (47,XXX) was present in 1 woman, and balanced structural aberrations in 6 (5.61%). In 3 of them balanced translocations were disclosed: t(7; 19)(p13;p13.3), t(8;16)(q24;q22), and t(3;8)(q21;p21), in 2--inversions: inv(2)(p25q31), inv(17)(p12p13.3), and in 1--der(20). Pericentric inversion of chromosome 9 was found in 3 men. The analysis of nongenetic factors showed that neither age, nor congenital anomalies of uterus could be an important factor causing abortions in analyzed couples with aberrations. However, infections and muta- or teratogenic exposure could contribute to loss of pregnancies in some cases. Authors conclude that karyotype analysis should be an integral part of diagnostics in couples with recurrent abortions.