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Genetic amniocentesis (GA) is the most common prenatal diagnostic test. One of the main indications for GA is maternal age ofor = 35 years. In many countries, the age indication has been replaced by an assessment of individual risk for chromosomal abnormalities, calculated on the basis of maternal age, pregnancy duration, as well as a combination of biochemical and ultrasound markers.The aim of the study was to investigate indications for and results of GA performed between 2010-2012 at the Department of Gynecology Obstetrics, and Oncologic Gynecology Nicolaus Copernicus University Collegium Medicum, Bydgoszcz.A total of 632 GA tests were performed at the Department of Gynecology Obstetrics, and Oncologic Gynecology Nicolaus Copernicus University Collegium Medicum, Bydgoszcz. Average maternal age was 34 (between 17 and 47 years), with patients35 constituting 47.9% (N = 303), and patientsor = 35 constituting 52.1% (N = 329) of the investigated group. Indications for GA as well as test results were analyzed in relation to maternal age. The result of earlier non-invasive tests were also analyzed.Abnormal ultrasound findings, combined with abnormal first-trimester screening results, were the most common indication (46.53%) for GA in patients35 years, whereas abnormal first-trimester screening results, combined with a history of obstetric complications, were the reason for GA in patientsor = 35 years. Mean time of GA was 16 gestational weeks in both groups. Abnormal karyotype was detected in 74 (11.7%) cases. 13 or any other abnormal karyotypes occurrence were observed in both age groups. GA-related complications (miscarriage/intrauterine fetal death) occurred in 9 (1.42%) cases.If performed properly GA between 15 and 20 weeks of pregnancy is a harmless procedure both, for the mother and the fetus, associated with an acceptable complication rate. Prenatal screening for the most common malformations and chromosomal aberrations should be offered to all pregnant women in Poland, regardless of their age.

The loss of three or more subsequent pregnancies before the end of the 22nd week is observed in 0.4-1% of women. Despite great advances in medicine, the causes of pregnancy failure (miscarriages, missed abortions and stillbirths), and the birth of a child or children with congenital abnormalities, are still not determined preciselyThe purpose of the research was to determine the association of polymorphisms and mutations of coagulation factors II and V genes, as well as methylenetethrahydrofolate reductase (MTHFR) gene polymorphism, with the course of pregnancy and the type of reproductive failure.The research was performed in a group of 116 women referred to the Genetic Outpatient Clinic of the NCU SM in Bydgoszcz between 2009-2010 due to reproductive failures. The molecular tests for thrombophilia, i.e. mutation of the factor V Leiden, prothrombin gene mutation 20210GA, and MTHFR polymorphism 677CT were done in all patients.The Leiden mutation was found in 8 women (homozygotic in 2 of them) and prothrombin gene mutation in 3.85 women had the heterozygotic MTHFR polymorphism, while 24 the homozygotic one. Coexistence of the Leiden mutation and the MTHFR polymorphism was found in 3 patients with history of miscarriages.1. The presence of the mutations that promote thrombophilia in the genes responsible for the foliate metabolism and for the plasma coagulation is often associated with pregnancy failures and may be their basic cause in some cases. 2. The percentage of women with pregnancy failures being heterozygotes (73.3%), homozygotes (20.7%) or both (94%) of the MTHFR gene 677CT polymorphism is statistically significantly higher than the highest prevalence of these changes in the general population (55, 13%, and 68%, respectively). 3. The factor V gene Leiden mutation is associated mainly with recurrent spontaneous abortions. In the present study it was found only in the group of women with both early and late miscarriages.

Mutations in cystic fibrosis transductance regulator gene (CFTR) are known to result in some forms of male infertility. An association between CFTR gene mutations and obstructive azoospermia in cystic fibrosis (CF) and in congenital unilateral and bilateral absence of vas deferens (CUAVD, CBAVD) has been proven. However, the role of CFTR gene mutations in the etiology of non-obstructive azoospermia, as well as in the regulation of spermatogenesis remains unsolved.The aim of the study was to evaluate the frequency of CFTR mutations in patients diagnosed with different forms of spermatogenesis impairmentThe molecular analyses were performed in the group of 93 infertile men, diagnosed with either azoospermia, oligospermia or asthenoteratozoospermia.The results of the study revealed the presence of F508del and IVS8-T in 5.4% of analyzed cases. No difference in CFTR gene mutations frequencies among patients with azoospermia, oligospermia and asthenoteratozoospermia has been observed.The CFTR gene mutations frequency in men with nonobstructive azoospermia, oligozoospermia and asthenozoospermia is similar to those observed in general population.

Congenital somato-sexual disturbances include wide range of classic syndromes, as well as different types of numerous or isolated developmental defects. 28 women with disorders of sexual development were clinically and cytogenetically analyzed.Clinical and cytogenetic evaluation of patients with disorders of somato-sexual development.28 women, 17-35 years old, were included in the study. Analysis data were performed on the basis of clinical records from Department of Obstetrics and Woman's Diseases of Medical University in Bydgoszczy. Cytogenetic investigations were carried out on standard lymphocyte culture method.Turner's syndrome was found in 12 women; 45, X in 7 mosaic karyotype 45, X/46, XX in 4, isochromosome i(Xq) in 1.3 women had normal, male karyotype, 46, XY. One of them had dysgenetic gonads of malignant dysplesia transformation. One patient's karyotype was 47, XXX. 12 women with gonadal dysgenesis--karyotype 46, XX.1. Patients with congenital disorders of somato-sexual development are a heterogenous group. 2. Laparoscopy an effective diagnostic and treatment method in women with disorders of congenital somato-sexual development.