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Parental perceptions of the burden of genetic disease.

Parents who are carriers of genes that code for genetic disease face a complex decision regarding procreation. To investigate how parents perceive the potential effects of having a child with congenital defects and how such perceptions influence their reproductive decisions, 202 women accepting and 50 women rejecting amniocentesis after genetic counseling were followed in a 3-year longitudinal study. Using multiple correspondence analysis, we found that perceived burdens associated with hypothetical congenital abnormalities leading to prolonged illness or early death were considered the most serious, those related to physical handicap or facial abnormalities were perceived as least serious, while genetic defects causing mental retardation fell between. The parents were increasingly likely to accept amniocentesis the more they felt they would be unable to cope with the consequences of a genetic disease leading to prolonged illness or mental retardation (R = .23). Overall, the women who accepted amniocentesis were those who perceived the consequences of congenital malformation as most burdensome. The findings suggest that genetic counselors should not only explore parents' attitudes about specific congenital abnormalities, but also their perceptions of how they would cope with the medical and social consequences of the various genetic defects.

Adaptation, Psychological↗

Reproductive health and AIDS prevention in sub-Saharan Africa: the case for increased male participation.

Reproduction is a dual commitment, but so often in much of the world, it is seen as wholly the woman's responsibility. She bears the burden not only of pregnancy and childbirth but also the threats from excessive child bearing, some responsibility for contraception, infertility investigation and often undiagnosed sexually transmitted diseases (STDs) including AIDS. Failure to target men in reproductive health interventions has weakened the impact of reproductive health care programmes. The paper proposes that sophisticated and dynamic strategies in Africa and elsewhere which target women's reproductive health and research (such as control of STDs including AIDS, family planning, infertility investigation) require complementary linkage to the study and education of men. Men's perceptions, as well as determinants of sexual behavioural change and the socioeconomic context in which STDs, including AIDS, become rife, should be reviewed. There is a need to study and foster change to reduce or prevent poor reproductive health outcomes; to identify behaviours which could be adversely affecting women's reproductive health. Issues of gender, identity and tolerance as expressed through sexuality and procreation need to be amplified in the context of present risks in reproductive health. Researchers and providers often ignore the social significance of men. This paper reviews the impact of male dominance, as manifested through reproductive health and sexual decisions, against the background of present reproductive health problems. A research agenda should define factors at both macro and micro levels that interact to adversely impinge on reproductive health outcomes. This should be followed up by well-developed causal models of the determinants of positive reproductive health-promoting behaviours. Behaviour specific influences in sexual partnership include the degree of interpersonal support towards prevention, for example, of STDs, unwanted pregnancy or maternal deaths. Perceived efficacy and situational variables influencing male compliance in, say, condom use, form part of the wider study that addresses men. Thus preventive reproductive health initiatives and information should move from the female alone to both sexes. Women need men as partners in reproductive health who understand the risks they might be exposed to and strategies for their prevention.

Acquired Immunodeficiency Syndrome↗

[Cure of female sterility. Treatment of hydrosalpinx].

BACKGROUND: The aim of this study was to show how a laparoscopic salpingectomy can positively modify infertile patients pregnancy rate after a diagnosis of hydrosalpinx, obtaining, through successive assisted procreation programs, a pregnancy rate equal to the pregnancy rate obtained in good conditions. METHODS: A group of 19 women under infertility treatment was evaluated: of these women, 11 were included less than three times in an assisted procreation program and 8 were included three or more times in these programs, for a total of 41 cycles of assisted reproduction: all these cycles were characterized by a negative result. All 19 patients were treated by diagnostic-operative laparoscopy: a salpingectomy was carried out after a hydrosalpinx in all these cases. RESULTS: All patients were treated with 2 assisted reproduction cycles, which were made with a variable range of time from 3 to 6 months after laparoscopic surgery, totalizing 38 cycles. At present, 4 pregnancies have been obtained (pregnancy rate = 22%): this value is comparable to the values obtained in the best assisted reproduction programs. CONCLUSIONS: Many studies showed that hydrosglpinx presence reduces very much FIVET procedures. There are many cases showing that the hydrosalpinx become worse, if it has not been preventively treated, during assisted reproduction programs. Moreover complications during FIVET programs in the presence of hydrosalpinx are observed. Even if this study is based on data related to a small number of patients, it's clear that surgical treatment of severe tubarian pathology can give the best results where an assisted reproduction program will be surely unsuccessful.

Fallopian Tube Diseases↗

Risk factors and prognostic factors in patients with double primary cancer: epithelial ovarian cancer and breast cancer.

BACKGROUND AND OBJECTIVE: The most important known risk factor for ovarian cancer is the BRCA1-2 mutation, which is clinically often manifested through a positive family history of cancer of the breast and/or ovary. Whether other risk factors and prognostic factors in women with a positive family history of cancer of the breast and/or ovary and/or with BRCA1-2 mutation are important remains to be elucidated. Recent studies have shown that in the double primary breast and ovarian cancer (DPBOC), BRCA1-2 mutation is present in at least 86% of cases. Therefore, the group of patients with DPBOC, especially with epithelial ovarian cancer and breast cancer, is the most suitable for such an analysis. The aim of this study was to verify the hypothesis that, in this group, some other risk factors, in addition to a specific family history of cancer, as well as unfavourable pathomorphological prognostic factors, are more expressed than in a control group of patients with sporadic epithelial ovarian cancer only. METHODS: We compared the study group of 31 patients with DPBOC (epithelial ovarian cancer) to a control group of 62 patients with a single, sporadic epithelial ovarian cancer and negative specific family history. The data were obtained from the Cancer Registry of Slovenia and from clinical records. For every patient, we filled-in a protocol and analysed the data, comparing other risk factors in addition to specific family history and prognostic, clinical, and pathomorphological factors. Statistical analysis was performed using descriptive statistics, chi-square test and t-test. Multivariate analysis was also planned, but the necessary conditions were not met. RESULTS: In the study group, we found a higher percentage of positive non-specific family histories than in the control group, but the difference was not statistically significant. No difference in procreative risk factors was observed between the groups. There was a higher percentage of borderline significance of women from the study group that developed ovarian cancer between 45 and 59 years of age. In the study group, ovarian cancer was significantly more often found at Stage I, although the groups did not differ in detection procedures. Also, we did not find any differences in the distribution of tumour grades or histologic tumour types. CONCLUSION: The results did not confirm our hypothesis, yet they indicated some differences between the groups regarding the risk factors for ovarian cancer. Regarding the prognostic factors, we even found a significantly higher percentage of Stage I epithelial ovarian cancer in the study group, with no difference in the mode of detection. Considering the results that are not typical of BRCA-related cancer (what double primary cancer of the ovary and breast is supposed to be) and previous reports, we find it more likely that the patients with BRCA1-2 mutations represent only a subgroup within the group of patients with double primary breast and ovarian cancer.

Adult↗

[Preferences on family composition among youngsters from Monterrey, Mexico].

In order to evaluate the effect of social and biological factors on family size (FS) and secondary sex ratio (SSR) in the families that they would desire to procreate as well as in the ones to which they belong, 1,518 unmarried persons of both sexes, students and workers, who reside in the metropolitan area of Monterrey, Mexico were interviewed. It was found that the average FS desired by the unmarried males and females, independently of their socioeconomic level and years of schooling, were 3.19 and 3.04, which are lower than half the FS of 6.81 observed in the families to which they belong. Both males and females in all the socioeconomic levels and years of schooling, would desire to procreate a larger number of male children: SSR of 0.576 and 0.524, which are higher than the 0.498 observed in the families to which they belong. Also they manifested a strong preference for the birth order of the sex of their children, being of males for the first (SSR of 0.924 and 0.838) and of females for the second (SSR of 0.301 and 0.269). The fact that all children would be of the same sex did not change the desired FS in about 80% of the persons, but in the remainder 20% the desired FS would be increased to an average of five children. In order to reduce the growth rate it would be convenient to offer special counseling on family planning to these persons. In conclusion, the obtained information indicates that aside from the socioeconomic, cultural and biological factors, probably the family planning programs have had a positive influence on the persons that in the near future will start their reproductive stage, and it is possible to anticipate a reduction on the growth rate for the next generation.

Adult↗

[Idiopathic male infertility and androgen receptors].

In France, 12 to 15% of couples experience procreation difficulties. A disorder of spermatogenesis (oligospermia, azoospermia) is responsible in 1/3 of cases. These forms of infertility, labelled idiopathic, probably have a genetic component, like microdeletions of the Y chromosome. The normal rate of circulating androgens suggests the implication, in some cases, of an abnormality from the receptor to the androgens (RA) of these male infertilities, whose number remains to be defined. Point mutations on exons of the gene encoding the AR cannot account for all cases of infertility due to idiopathic disorders of spermatogenesis. Expansion of the number of CAG triplets of exon 1 of the AR gene, already demonstrated in a fatal degenerative neuropathy (Kennedy's disease, in which more than 50% of patients are infertile), has been detected in these cases of idiopathic infertility and would be responsible for AR dysfunction. The number of these triplets is also decreased in patients with androgen-dependent prostate cancer. The polymorphism of repetition of CAG triplets would therefore be responsible for fine adjustment of the AR between excessive and insufficient function. ICSI. (Intra-Cytoplasmic Sperm Injection) is currently proposed in these cases of infertility, but the consequences of transmission of these abnormalities to the offspring are unknown.

Humans↗

Legal issues related to parenthood after cancer.

Cancer and procreation raise a host of novel legal issues involving the rights of those trying to create families after cancer treatment and any resulting children, as well as the responsibilities of those who assist them. Recent court decisions, although neither consistent nor plentiful, highlight the emerging legal issues for patients, providers, and offspring. This article explores a number of legal issues related to cancer and parenthood, including: 1) patients' cryopreservation of sperm, eggs, or embryos and subsequent access to and use by them or their former partners; 2) fertility preservation in minor patients; 3) posthumous reproduction and legal parentage issues for children born from cryopreserved embryos or gametes; 4) wrongful life or wrongful birth claims of children born following their parents' cancer treatments; 5) access to, and discrimination in, medical treatment or alternative family-building options; and 6) professional responsibility and liability for providers relating to the potential fertility impact of cancer treatment. The limited, evolving court decisions, through the application of legal principles such as negligence, malpractice, discrimination, and parentage principles, provide some guidance for patients, providers, and policymakers in approaching the unique challenges presented by fertility preservation in the context of cancer treatments.

Adolescent↗

Evaluation of the anti-rubella immunity levels on a lot of 5,000 sera from women at procreative age, tested by HAI, in Romania.

From the study performed on a lot of 5030 sera, prelevated from women between 15-40 years old, tested by hemagglutination inhibition reaction (HAI), divided in 5 age groups of 5 years each, resulted that the percentage of women that can be considered immunologically protected against rubella (with HAI antibody titers greater than or equal to 1/20) varied between 79.5% (15-20 years of age group), and 75.3% (31-35 years of age group). The average percentage for the total lot was 76.7. The geometrical means (MGx/divided by SG) of the individual HAI titers ranged between extreme values of 54.2 (x/divided by 4.1) for the Group I, and 40.7 (x/divided by 3.8) for the Group IV, presenting the value of 44.4 (x/divided by 3.9) for the total lot. The covering coefficients of the protection limit, estimated at the level of geometrical means of antibody titers, ranged between 2.7 and 2.0, according to the age group, while the estimations made at the levels of the limits of the statistical range of one geometric standard deviation (MG x/divided by SG), presented values comprised between 11-8 and 0.7-0.5, respectively. On the basis of some theoretical mathematical models proposed in the literature (and using data resulted from the study performed), an attempt was made to approximate the rate of fetal exposure as well as the presumptive risk of congenital rubella syndrome (to 0/0000 live-born).

Adolescent↗

Natural contraception using the Billings ovulation method.

OBJECTIVE: The Billings ovulation method (BOM) is a medical model of a natural procreation education method based on scientific observation of the changes in the cervical mucus. In this study we examined Turkish women's interest in accurate usage of cervical mucus changes in determining the ovulation time. METHOD: Fifteen regularly cycling women monitored their fertility patterns in 30 cycles using the BOM and urine luteinizing hormone (LH) kits. At the end ofeach cycle, the cervical mucus monitoring chart and LH kits were collected from the subjects and analyzed. RESULTS: The cervical mucus symptoms defined a potential fertile period of 10 days' average length, with the 'peak' mucus characteristic occurring at a mean of day 13.65 +/- 2.62 of the cycle. The duration ofthe LH surge, as observed in early morning urine samples, averaged 5 days, with the peak occurring at a mean of day 13.40 +/- 2.58 of the cycle. Data indicated that there was a strong correlation between LH in the urine and the peak in self-observed, cervical-vaginal mucus (p = 0.001). CONCLUSION: This study proved that women can distinguish patterns of ovulation and anovulation by self-detection of variations in cervical mucus characteristics, and that urinary LH levels strongly correlate with ovulation.

Adult↗

[Genital tuberculosis and sterility].

The incidence of genital tuberculosis in its active and silent forms in determining in female procreational incapacity can be evaluated at about 5.03% (0.27% in active phase, 4.76% latent): these figures come from the extensive series of three Milan marriage sterility centres covering some thirty years of clinical and out-patient work (a total of 294 patients with specific genital diseases, of whom 16 in developmental phase and 278 latent). Chemotherapy, which always involves a variety of medicaments (prevalently streptomycin-isoniazide-etambutol association or rifampicin-isoniazide) can consist of the following approaches, depending on disease characteristics: - attach therapy - particularly in initially exudative forms, in acute and subacute evolutive phase and in the acute recurrences of chronic, drug-sensitive forms - using massive doses for two-three months; - basic therapy - indicated in chronic and stationary periods - with simultaneous administration of the chosen drugs and breaks in the treatment, for a period of at least six-eight months; - consolidation therapy - to be carried out even when the cure is apparently complete so as to avoid relapses - with periodic cycles lasting at least ten-twelve months. The experience can be considered highly encouraging because, quite apart from clinical cure, gestation occurred in only six cases and these gave rise to eutocic deliveries.

Adult↗

[Risks of medical complications inherent in technics of assisted procreation (excluding legal incidences)].

Although in France the law is still relatively poor in matters concerning complaints against medical people for accidents and incidents in connection with assisted reproduction, it appeared to the authors that it would be interesting to examine the subjects. There is some French and Anglo-saxon literature about the matter so that the circumstances that can be dangerous for the patients as well as well as for the doctors carrying out the processes can be listed in connection with the medico-legal field. When the legal cases in connection with the manipulation of gametes and of embryos have been excluded, there only remain the risks linked to the complications of the various techniques of assisted reproduction. These include those in connection with induction of ovulation and ovarian hyperstimulation. After having made a list of the risks in connection with In-Vitro Fertilization, with G.I.F.T. and with the various technique similar to it, such as artificial insemination donor, the authors suggest the steps that can be taken to prevent these medical complications and their eventual medico-legal repercussions. These consist of good organisation and improving the facilities dealing with assisted reproduction. The personnel should be well trained, as much information as possible should be given to the patients so that they give informed consent, whether exploratory procedures are being carried out or they are being treated with hormones, or having such manipulations as are necessary to obtain the desired pregnancy for them.

Female↗

Strategies in frozen donor semen procreation.

Data were analysed from 710 couples who had been assessed to determine the effectiveness and the drawbacks of three different methods of insemination using frozen donor semen. Intracervical insemination (ICI) was the first method used when the women had no tubal disorder: 255 pregnancies were achieved in a total of 2558 cycles (10%). Intrauterine insemination (IUI) associated with ovarian stimulation resulted in 152 pregnancies over 966 cycles (16%). In-vitro fertilization (IVF) was proposed after approximately 12 insemination failures using either of the other methods or when the initial gynaecological examination had revealed abnormalities such as tubal occlusions; 48 pregnancies were obtained in 262 cycles (18.3%). The pregnancy rate using ICI was significantly higher when two inseminations were performed per cycle, compared with one insemination per cycle (12.3 versus 7%, P < 0.001). The number of motile spermatozoa per straw was correlated with the pregnancy rate when using ICI, rising from 9% with < 4 x 10(6) motile spermatozoa to 13.8% with 4-8 x 10(6) and 17.2% with > 8 x 10(6). No relationship was found between the number of motile spermatozoa and the pregnancy rate using IUI and IVF. The incidence of primary ovulatory disorder was higher among women whose husbands were oligozoospermic than among those whose husbands were azoospermic (19 versus 9%, P < 0.01), but ovarian stimulation improved the fecundity of subfertile women. The outcome of pregnancies was also analysed for the three methods. From these data, strategic plans have been proposed to maximize the pregnancy rate for women undergoing therapeutic donor insemination with frozen semen.

Adult↗

[Assisted procreation for male indication].

Strategy for male infertility looks like a compromise between diagnosis methods with their efficacy and complexity and treatment with their own risks, cost, efficacy. Infertility duration as well as woman's fertility play a key role for such a strategy. Definitive infertility without any correction (secretory azoospermia) will be proposed for alternate projects. Some situations may benefit from specific therapy (hypogonadotropic hypogonadism, anejaculations or retrograde ejaculation). More frequently male hypofertility is suspected with non specific sperm alterations, then assisted reproductive technologies will be discussed. Intra-cervical way artificial insemination with husband semen may be proposed in case of hypospadias, anejaculation, retrograde ejaculation, small volume ejaculate or self-cryostored semen, however negative post-coital test, positive crossed penetration test and positive post-insemination test need to be confirmed. Intrauterine way enhance fertilizing probability by discarding cervical step. It will be justified in case of negative post-coital test as well as crossed penetration test except that sperm preparation allowed to inseminate 500,000 to 1 million motile spermatozoa. Both rigorous monitoring and synchronism between insemination and ovulation enhance the efficacy of IU AIH which allowed a two to four fold increase in the pregnancy rate on a total of six cycles. In vitro fertilization for male factor represent around 15% of all IVF attempts. Both decrease in the fertilization rate and the increase in the pregnancy rate by transfer as compared with tubal factor are well accepted. The fertilization failure remain difficult to explain and need to be cautiously confirmed. Thus IVF represent an actual fertilization test but remain limited by the heterogeneity of parameters under "male factor".(ABSTRACT TRUNCATED AT 250 WORDS)

Fertilization in Vitro↗

[Systemic sclerosis and pregnancy].

PURPOSE: Pregnancy in a patient with systemic sclerosis (SSc) may pose a double problem to the medical team: influence of SSc on pregnancy and consequences of pregnancy to SSc manifestations. CURRENT KNOWLEDGE AND KEY POINTS: Concepts have evolved. SSc was considered for a long time not only as not very propitious for pregnancy but also as a strict contraindication for procreation because risks for the mother and the baby were thought to be major. Currently, fertility is thought to be normal. Miscarriages and small-for-gestation age infants rate do not seem to be higher in SSc. Maternal and perinatal mortality is also not higher in SSc without severe visceral manifestations, i.e. without either pulmonary hypertension, or cardiac or respiratory insufficiency. Conversely, there is a significantly higher frequency of premature infants in SSc. As regards influence of pregnancy on SSc, the greatest fear is the occurrence of renal crisis, which may be life threatening for both mother and child. Each elevation of blood pressure, even if this increase is mild, should be considered as potentially very serious. However, pregnancy itself does not seem to increase the risk of renal crisis. Consequences of pregnancy to SSc manifestations are various but usually mild. FUTURE PROSPECTS AND PROJECTS: SSc is not a strict contraindication for pregnancy only if severe organ involvement, diffuse subset of SSc or recent onset of the disease has been ruled out. Physicians should be aware of specific problems, which SSc is possibly posing during pregnancy. Finally, it has been recently suggested that pregnancies could be involved in the pathogenesis of SSc through persisting microchimerism of fetal origin.

Acute Disease↗

Detection and characterization of hepatitis C virus RNA in seminal plasma and spermatozoon fractions of semen from patients attempting medically assisted conception.

To investigate the risk of transmission of hepatitis C virus (HCV) via semen in assisted reproduction techniques, semen samples from 32 men chronically infected with HCV attending a center for assisted procreation were tested for HCV RNA by a reverse transcription-PCR protocol by using a modified version of the Cobas AMPLICOR HCV assay (version 2.0; Roche Diagnostics). The sensitivity of the test was 40 copies/ml. Four of 32 seminal plasma samples (12.5%) were found to be positive for the presence of HCV RNA. The median HCV load in blood was significantly higher in patients who were found to be positive for the presence of HCV RNA in semen than in those who tested negative (P = 0.02). In one man, seven consecutive seminal plasma samples tested positive for HCV RNA, as did two consecutive motile spermatozoon fractions; the corresponding fractions obtained after migration of the spermatozoa remained negative. Despite the absence of the proven infectivity of virus in semen samples that test positive for HCV RNA, these findings highlight the fact that seminal fluid may exhibit prolonged HCV RNA excretion. The usefulness of HCV RNA detection in both seminal plasma and spermatozoon fractions before the start of a program of medically assisted reproduction in couples in whom the male partner is chronically infected with HCV would need to be evaluated prospectively with a larger population of subjects exhibiting HCV RNA in their semen.

Adult↗

[Influence of abnormal structure beta chain of luteinizing hormone on endocrinological kinetics of luteinizing hormone and gynecologic diseases].

With recent progress in endocrinology and in procreation physiology, the importance of kinetics of pituitary gonadotropin has been increasing, and the measurement method has been improved. In the present study, however, we found inconsistency in measured LH values between IRMA (SPAC-S LH) as the conventional method and CLEIA (IMMULYZE LH) as the newly developed method. The inconsistency between the SPAC-S LH value and the IMMULYZE LH value was observed in 10.0% of the healthy group and in 12.5% of the patient group. The cause of this discrepancy was due to a reaction of the SPAC-S LH of the intact LH monoclonal antibodies to the LH with the abnormal structure beta chain by two point mutation in the LH beta gene. The response of LH-RH test varied depending on the measurement reagent of LH in patients who had the LH with the abnormal structure beta chain, which made it difficult to determine the lesion and histological grading regarding the ovulation mechanism. Therefore, in patients with abnormal beta chain, an accurate treatment protocol was indeterminate. In this study, although a relationship between various gynecological diseases and the point mutation of LH was not clarified, we suggest that LH of the abnormal structure beta chain may cause excessive secretion in the early stage, and lead to some effect on physical activities.

Biomarkers↗

The person-affecting restriction, comparativism, and the moral status of potential people.

Traditional ethical theories have paradoxical implications in regards to questions concerning procreation and our moral duties to future people. It has been suggested that the crux of the problem resides in an all too 'impersonal' axiology and that the problems of population axiology can be solved by adopting a 'Person Affecting Restriction' which in its slogan form states that an outcome can only be better than another if it is better for people. This move has been especially popular in the context of medical ethics where many of the problems of population axiology are actualized. Examples are embryo or egg selection, pre-implantation genetic testing, assisted reproduction programmes, abortion, just to mention a few. I discuss a number of different interpretations of the Restriction and in particular one interpretation which I call Comparativism. According to this view, we should draw a distinction between uniquely and non-uniquely realizable people. The former people only exist in one out of two possible outcomes, whereas the latter exist in both of the compared outcomes. The idea is that we should give more weight to the well-being of non-uniquely realizable people or take it into account in a different way as compared to the well-being of uniquely realizable people. I argue that the different versions of the Person Affecting Restriction and Comparativism either have counterintuitive implications of their own or are compatible with traditional theories such as Utilitarianism.

Bioethical Issues↗

[Ten years follow-up of medically assisted procreation in Belgium].

Since 1989, the data concerning medically assisted procreation (MAP) in Belgium have been registered through the BELRAP association (Belgian Register for Assisted Procreation). In 1999, the national College of Physicians in Reproductive Medicine has been installed and given the mission to carry out the quality controls and the registration of MAP activities in our country. In 2001, a new on line system of registration of all treatment cycles was started, the basic structure of the corresponding data base having undergone a series of changes along the years. Although the number of MAP trials has considerably increased in our country, mainly because of the introduction of new techniques such as intracytoplasmic injection of sperm (ICSI), the success rate per trial has remained almost unchanged, becoming stabilized around 18.8% of ongoing pregnancies per initiated cycle. The main modification that occurred during the analyzed period has been the reduction of the number of embryos transferred at each trial, being first reduced from 3 to 2 to evolve more recently towards the replacement of only one embryo per trial. Multiple pregnancies are indeed the chief complication of MAP and in order to avoid it Belgian centers have been among the first to reduce drastically the number of transferred embryos. In 2003, legal rules were enacted, fixing the number of replacable embryos in accordance to the patient's age and to the rank of trial, while also solving the problem of the long-awaited reimbursement of MAP by our national social security system.

Belgium↗