Unexpected application of counselling skills by a fertility research nurse

Men attending the Andrology Laboratory for the first time were asked to complete questionnaires regarding their employment, lifestyle, diet and infancy for the Chemicals and Pregnancy Study UK (CHAPS-UK) research study. CHAPS-UK is a multi-centre study investigating reasons for male infertility. During one interview, a patient expressed concerns about his sexual relationship with his wife. Initially, he described his concerns about infertility but as the nurse used her counselling skills, the patient was able to voice his psychosexual difficulties. This was the first time in 5 years of marriage the patient talked about his situation to another person. The research nurse was able to combine good communication and counselling skills to facilitate the patient's need to face his problem, which enabled him to make a constructive decision about his need for further help. This case highlights the difficult situation in which fertility nurses can find themselves and reinforces the need for nurses involved in the care of infertile couples to have training in counselling skills and the ability to make appropriate referral to an infertility counsellor when required.     

Unexpected application of counselling skills by a fertility research nurse

Men attending the Andrology Laboratory for the first time were asked to complete questionnaires regarding their employment, lifestyle, diet and infancy for the Chemicals and Pregnancy Study UK (CHAPS-UK) research study. CHAPS-UK is a multi-centre study investigating reasons for male infertility. During one interview, a patient expressed concerns about his sexual relationship with his wife. Initially, he described his concerns about infertility but as the nurse used her counselling skills, the patient was able to voice his psychosexual difficulties. This was the first time in 5 years of marriage the patient talked about his situation to another person. The research nurse was able to combine good communication and counselling skills to facilitate the patient's need to face his problem, which enabled him to make a constructive decision about his need for further help. This case highlights the difficult situation in which fertility nurses can find themselves and reinforces the need for nurses involved in the care of infertile couples to have training in counselling skills and the ability to make appropriate referral to an infertility counsellor when required.     

Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations

OBJECTIVES: The presence in the conceptus of a Robertsonian translocation predisposes to UPD formation, mainly by post-zygotic events of chromosome abnormality rescue. This is due to the increased risk of generating aneuploid zygotes because the rearranged chromosome and the respective homologues are prone to non-disjunction errors. Given this, carriers and karyotypically normal individuals conceived from a parent with a Robertsonian translocation are at risk for UPD. Abnormal phenotypes due to an imprinting effect have been found to be associated with UPD 14 and 15.The aim of the study was to refine, at the time of prenatal diagnosis, the risk for UPD 14 and 15 in a population with Robertsonian translocations involving these chromosomes. METHODS: Sixty-five cases of familial and de novo heterologous Robertsonian translocations involving chromosomes 14 and 15 and 18 fetuses with a normal karyotype, but conceived by a Robertsonian translocation carrier were prenatally studied to investigate the presence of UPD for chromosomes 14 and 15. RESULTS: Of the 65 Robertsonian translocation carriers, one fetus with a de novo der(14;21) showed maternal UPD 14. None of the 18 fetuses with a normal karyotype had UPD. CONCLUSION: Our data, combined with other previous prenatal investigations provide a general risk estimate for UPD 14 and 15 of 0.6%. Nevertheless, combining our data and those previously reported, all three fetuses with UPD had a de novo Robertsonian translocation, thus suggesting a risk of UPD formation of about 3% for this specific group of translocation carriers.     

Prenatal UPD testing survey in Robertsonian translocations

A systematic search was made for uniparental disomy (UPD) in familial or de novo balanced Robertsonian translocations, identified by prenatal cytogenetic investigations. Parent-of-origin studies were performed using molecular markers for both chromosomes involved in the translocation. No UPD cases were identified out of 23 analysed cases. The results presented here, combined with other available data, provide preliminary elements for genetic counselling in these common chromosomal rearrangements.     

Birthweight and paternal height

Summary. The distributions of standardized birthweights of babies born to women of given heights married to short and tall husbands were compared. The standardized birthweights were consistently greater for babies born to women with tall husbands. It is concluded that tall parental stature relates to favourable environmental and genetic components among those influencing birthweight.     

Maternal and paternal alcohol consumption and miscarriage

To explore the role of parental alcohol consumption in miscarriage we interviewed 80 women who miscarried about their own and their partners' drinking habits. A control group of 81 gestational-age-matched women whose pregnancy ended in the delivery of a healthy infant at term were similarly questioned. The use of alcohol by women and men was equally frequent in both groups. Before pregnancy, the mean alcohol consumption per week had been about 1-2 drinks for the women and 4-5 drinks for the men. During the presumed day of conception, 13% of the women who miscarried and 11% of the women in the control group had drunk on average 3-4 drinks; the other women had been abstinent at this time. Of the partners, 13% and 15%, respectively, had taken a mean of 4-5 drinks. In both groups 58% of the subjects continued to consume alcohol during pregnancy. The mean consumption was about one drink a week by the women who miscarried and half a drink a week in the control group. Of women who miscarried, 36 had a blighted ovum and in this subgroup alcohol consumption in both women and men was similar to that in the other women who miscarried and their partners, suggesting that alcohol is not causally related to the development of a blighted ovum. These results suggest that moderate maternal or paternal alcohol consumption does not increase the risk of miscarriage.     

Maternal and paternal smoking and pregnancy-induced hypertension

OBJECTIVE: Smoking has been suggested to reduce the risk of pregnancy-induced hypertension (PIH). We have analyzed the association between smoking and risk of PIH using data from a case-control study conducted in Italy. STUDY DESIGN: Cases were 215 women who gave birth on randomly selected days at a network of obstetric departments and with a diagnosis of PIH, i.e. diastolic pressure above 90 mmHg on at least two occasions 24h apart. Controls were 1222 women (median age 30 years) who delivered at term healthy infants on randomly days at the same hospital where the cases had been identified. RESULTS: In comparison with never smokers, current smokers at conception were at decreased risk of PIH (odd ratio (OR) 0.7, 95% confidence intervals (CI) 0.5-1.0). The protection increased with number of cigarettes smoked per day, the OR of PIH being, respectively, 0.8 and 0.6 in women reporting <15 and > or =15 cigarettes per day at conception. The inverse relation was also observed when the analysis was conducted in strata of age, parity and nausea. Women who had quit smoking 1 year or more before conception were not at decreased risk (OR 1.0, 95% CI 0.6-1.5). No association emerged considering cigarettes smoked during the first trimester of pregnancy only. No relationship emerged between partner's smoking and risk of PIH. CONCLUSIONS: This study confirms that current smokers are at decreased risk of PIH, but indicates that a reduction in risk is not present in ex-smokers.     

Maternal and paternal alcohol consumption and miscarriage

Summary. To explore the role of parental alcohol consumption in miscarriage we interviewed 80 women who miscarried about their own and their partners' drinking habits. A control group of 81 gestational-age-matched women whose pregnancy ended in the delivery of a healthy infant at term were similarly questioned. The use of alcohol by women and men was equally frequent in both groups. Before pregnancy, the mean alcohol consumption per week had been about 1–2 drinks for the women and 4–5 drinks for the men. During the presumed day of conception, 13% of the women who miscarried and 11% of the women in the control group had drunk on average 3–4 drinks; the other women had been abstinent at this time. Of the partners, 13% and 15%, respectively, had taken a mean of 4–5 drinks. In both groups 58% of the subjects continued to consume alcohol during pregnancy. The mean consumption was about one drink a week by the women who miscarried and half a drink a week in the control group. Of women who miscarried, 36 had a blighted ovum and in this subgroup alcohol consumption in both women and men was similar to that in the other women who miscarried and their partners, suggesting that alcohol is not causally related to the development of a blighted ovum. These results suggest that moderate maternal or paternal alcohol consumption does not increase the risk of miscarriage.     

Cancer and fertility: strategies to preserve fertility

Fertility preservation is a key component of cancer management in young people. The Fourth Evian Annual Reproduction Workshop Meeting was held in April 2009 to discuss cancer and fertility in young adults. Specialists in oncology, assisted reproduction, embryology and clinical genetics presented published data and ongoing research on cancer and fertility, with particular focus on strategies to preserve fertility. This report is based on the expert presentations and group discussions, supplemented with publications from literature searches and the authors' knowledge. Fertility preservation should be considered for all young people undergoing potentially gonadotoxic cancer treatment. A variety of options are required to facilitate safe and effective fertility preservation for individual patients. Sperm banking is a simple and low-cost intervention. Embryo cryopreservation is the only established method of female fertility preservation. Oocyte cryopreservation offers a useful option for women without a male partner. Emergency ovarian stimulation and cryopreservation of ovarian tissue (followed by tissue transplantation or in-vitro maturation of oocytes) are experimental techniques for women who require urgent cancer treatment. Further prospective studies are required to validate cryopreservation of oocytes and ovarian tissue, in-vitro maturation of oocytes and new vitrification techniques and to identify any long-term sequelae of slow freezing of embryos.     

Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation

We report on the phenotypic features of a patient with partial trisomy of the long arm of chromosome 16 due to an unbalanced Y;16 translocation (46,X,der[Y]t[Y;16] [q12;q22]pat). The patient was noted to have craniofacial anomalies and developmental delay, but no other major malformations. The father, a balanced Y;16 translocation carrier, has apparently normal fertility.     

Brachytherapy and fertility

Fertility is a major part of the global care of patients treated for cancer. A new discipline known as oncofertility has emerged in some countries. Although the relationship between chemotherapy and external radiotherapy and fertility has been studied and reported, there is only scarce data available on brachytherapy. This systematic review aims to report available knowledge on the impact of brachytherapy on fertility. Specific consultations should be considered before brachytherapy to inform patients about their fertility preservation options.     

Chemotherapy and fertility

The overall increase in cancer prevalence and the significant increase in long-term survival have generated worldwide interest in preserving fertility in young women exposed to gonadotoxic chemo- and radiotherapy. Infertility represents one of the main long-term consequences of combination chemotherapy given for lymphoma, leukaemia and other malignancies in young women. The gonadotoxic effect of various chemotherapeutic agents is diverse, may involve a variety of pathophysiologic mechanisms, and is not unequivocally understood. Proliferating cells, such as in tissues with high turnover (i.e. bone marrow, gastrointestinal tract and growing ovarian follicles) are more vulnerable to the toxic effect of alkylating agents. These agents may also be cytotoxic to cells at rest, as they are not cell-cycle specific. Alkylating agents, the most gonadotoxic chemotherapeutic medications, cause dose-dependent, direct destruction of oocytes and follicular depletion, and may bring about cortical fibrosis and ovarian blood-vessel damage. The reported rate of premature ovarian failure after various diseases and chemotherapeutic protocols differ enormously, and depend mainly on the chemotherapeutic protocol used and age range of the woman. Several options have been proposed for preserving female fertility, despite gonadotoxic chemotherapy: ovarian transposition, cryopreservation of embryos, unfertilised metaphase-II oocytes and ovarian tissue, and administration of gonadotropin-releasing hormone agonistic analogs in an attempt to decrease the gonadotoxic effects of chemotherapy by simulating a prepubertal hormonal milieu. None of these methods is ideal and none guarantees future fertility in all survivors; therefore, a combination of methods is recommended for maximising women's chances of future fertility.     

Age and fertility

More women are planning pregnancy after the age of 35. Unfortunately for these individuals, aging is associated with compromised ovarian function and decreasing fecundity. Compromised oocyte quality is associated with fetal aneuploidies and poor quality embryos with an increased miscarriage rate. Secondary to this compromised oocyte quality, success rates of assisted reproductive techniques decline. Follicle stimulating hormone (FSH) and estradiol levels on day 3 of the menstrual cycle help to assess the ovarian reserve. Fertility potential can also be assessed by the clomiphene challenge test. In order for women to plan for their childbearing, an understanding of the influence of age on fertility is essential. It is the responsibility of caregivers to educate patients regarding this issue. Assisted reproductive techniques (ART), ovum donation, and preimplantation diagnostic techniques help to improve the successful pregnancy outcomes in older women.     

Dysthyroidism and fertility

The role of the thyroid gland in sterility is not well known; hyperthyroidism may have an effect upon estrogen secretion by decreasing the level of the free forms of estradiol, resulting in a lowering or disappearance of the LH ovulatory peak. Clinically, severe hypothyroidism would cause a retarded sexual development but simple hypothyroidism and hyperthyroidism do not seem to have a major effect upon sexual maturity. During the period of genital activity, hyperthyroidism may result in amenorrhea and dysovulation phenomena reminding of ovarian dystrophy; hypothyroidism results in the same phenomena, with decreased libido, but with a better screening process and a better adjusted substitute treatment, these disorders are rare. Finally, systematic evaluation of the thyroid function in unexplained sterilities, appears unnecessary most of the time.     

Endometriosis and fertility

Endometriosis is a chronic inflammatory condition of reproductive age which can lead to infertility and chronic pelvic pain. The pathophysiology of endometriosis-associated infertility is not well understood and it appears to be multi-factorial; mechanical, inflammatory, hormonal, genetic and environmental processes can disturb each step of the normal reproductive physiology; folliculogenesis, ovulation, sperm function, gamete transport, fertilization and implantation. Medical management has limited role for women with endometriosis wishing to conceive. The ongoing pregnancy rate for infertile women with milder forms of the disease is improved by surgery. Surgical management for symptoms associated with severe disease and endometrioma in infertile women needs careful consideration of possible benefits and associated risks. Endometriosis-associated infertility is a recognised indication for assisted conception treatment.