The Levels of Pregnancy-Associated Plasma Protein (PAPP-A) and Chorionic Gonadotropin (β-hCG) in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy.

Introduction: Hypothyroidism occurs in pregnant women at a rate of 0.3% to 3%. The deficiency of thyroid hormones during pregnancy can lead to an increased risk of pregnancy complications and poor health of the child, particularly affecting its psychomotor development due to the intensive growth of the nervous system during gestation.

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation.

Introduction: The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the abnormal development of secondary sex characteristics. The presence of abnormalities concerning X chromosome can also contribute to many genetically heterogeneous diseases associated with cognitive impairment and intellectual disability.

Purpose: This study shows the effect of aberrations of the maternal X chromosome on the abnormal development of the child.

Abnormal sperm morphology is associated with sensitization to inhaled allergens.

Background: Allergy is associated with the loss of tolerance of environmental antigens, combined with a pathological immune response. There were no studies up to date that would show whether the quality of semen decreases in people with allergic diseases.

Material And Methods: The research included men who reported to the Gynecological Outpatient Clinic due to reproductive difficulties, defined as the lack of pregnancy after one year of regular intercourse.

Prenatal identification of partial 3q duplication syndrome.

Background: The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information for genetic counselling, especially in prenatal diagnostics. However, in most cases it is impossible to define them precisely because the final clinical presentation is a result of an overlap, usually due to different sizes of deletions and/or duplications not only chromosome 3 but also of translocation partner chromosome.

Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2).

Background: Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at risk of production of unbalanced gametes during meiosis, as a result of various forms of chromosome segregation.

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.

Background: Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases were described.

Results: The described patient and her husband were referred to genetic counseling clinic because of four reproductive failures.

[Indications for genetic amniocentesis investigated at the Department of Gynecology, Obstetrics, and Oncologic Gynecology, Nicolaus Copernicus University, Collegium Medicum, Bydgoszcz].

Introduction: Genetic amniocentesis (GA) is the most common prenatal diagnostic test. One of the main indications for GA is maternal age of > or = 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.

A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland.

Background: Germline mutations of the CHEK2 gene have been reported to be associated with breast cancer. In this study, we analyzed the association of CHEK2 mutations with the risk of development of breast cancer in women of North-Central Poland.

Methods: 420 women with breast cancer and 435 controls were tested for three protein truncating (IVS2 + 1G > A, 1100delC, del5395) and one missense (I157T) CHEK2 mutation.

[Molecular diagnostic tests for thrombophilia in patients referred to genetic counseling clinic because due to recurrent pregnancy failure. One center's experience].

Unlabelled: 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 precisely

The Aim: The 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 effect of smoking on reproductive failures in couples examined in the Genetic Outpatient Clinic at Dr. A. Jurasz University Hospital in Bydgoszcz].

Background: 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.

[Tobacco smoking among young patients with bronchial asthma and determination of smoking-related behavior in the patient's closest environment].

Background: The negative influence of tobacco smoke on the course of bronchial asthma is complex and includes direct toxic effects on the epithelium of the respiratory tract. It is estimated that in developed countries, approximately 25 percent of adult asthmatics are tobacco smokers. Knowledge of the scale of the habit, may considerably contribute to the optimization of effective pro-health activity.

[The influence of smoking of the cigarettes on the level of circulating immunological complexes in the serum of patients with the hypersensitivity of the type I].

Circulating immunological complexes are the answer of the immunological system on appearing in the organism of the substance about the character of antigenic. The growth of the concentration of immunological complexes is described in many diseases among others in allergies. The aim of the work was the opinion of levels of circulating immunological complexes serums smoke patients and no smokes with the hypersensitivity of I type.

[Analysis of spreading of smoking habit among pregnant women admitted to the Prenatal Outpatient Clinic in 2005-2006].

A harmful influence smoking on health is well known and documented. Smoking during pregnancy has negative influence not only on mothers but also on embryos. In spite of pregnancy is a very good reason to stop smoking only every third pregnant stop smoking during pregnancy.

[Passive smoking at teenager's home suffering from asthma bronchiale and control at the disease with Asthma Control Test].

Allergies of the respiratory system are very often at children. Passive smoking may predispose to allergies. The last news shows that smoking at home increases incidence of asthma.

[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia].

Unlabelled: 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.

[Anti-nicotine education applied in relation of parents of the diseased children on chronic allergic diseases of respiratory system].

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.

[Influence of tobacco smoking on the level of alfafetoprotein and circuleting immune complexes in serum of smokinig and nonsmoking women being in second trimester of pregnancy].

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 results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility].

Unlabelled: The causes of primary sterility are complex and frequently difficult to elucidate. Cytogenetic anomalies are responsible for sterility in 5-10% infertile couples.

Objectives: Analysis of genetic background of primary sterility in 35 infertile couples.

[The results of cytogenetic investigations in 107 couples with recurrent spontaneous abortions from Pomerania-Kujawy region of Poland].

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.

[Symptoms of andropausal syndrome in smoking and non-smoking males].

Symptoms of andropause syndrome such as: erectile dysfunction, somatovegetative and psychic symptoms have been examined in groups of smoking and non-smoking patients between 45 and 75 years of age Tests of testosterone, prolactin and SHBG levels have been carried out. Earlier andropause, a lower level of testosterone as well as more common arterial hypertension have been found in the group of smoking patients.

[Influence of cigarette smoking on some sperm parameters in males with decreased fertility].

112 patients from infertile couples with diagnosed asthenospermia and oligoasthenospermia have been examined. The results have been analysed in view of smoking. An increased number of antisperm antibodies have been detected in smoking patients.

[Clinical and cytogenetic evaluation of patients with disorders of somato-sexual development].

Unlabelled: 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.

Aim: Clinical and cytogenetic evaluation of patients with disorders of somato-sexual development.