Antenatal screening for cystic fibrosis: a trial of the couple model.

OBJECTIVE--To assess the delivery and acceptability of antenatal couple screening for cystic fibrosis. Carrier status was notified only when both members of a partnership had cystic fibrosis alleles and therefore a one in four risk of having an affected child. DESIGN--Mouthwash samples were tested when both partners participated. Results were returned only to positive couples. SETTING--Two large maternity hospitals in Edinburgh. SUBJECTS--Screening was offered to all couples who booked at one of the two hospitals. MAIN OUTCOME MEASURES--(a) The take up of screening, carriers and carrier couples identified, take up of prenatal diagnosis, and numbers of affected fetuses detected; (b) questionnaire measures of patient satisfaction and stress. RESULTS--Screening was offered to 8536 couples. 714 (8.4%) were regarded as ineligible, usually because of late booking or absence of a partner. 1900 (24.3%) of the remainder declined screening. Among the 5922 screened couples, four tested positive--that is, both partners were cystic fibrosis heterozygotes. All four elected to have prenatal diagnosis. There were three terminations of pregnancy because of an affected fetus, one couple having two successive pregnancies with affected fetuses. The participation rate was 76% for eligible couples (5922/7822) and 69% for all couples (5922/8536). Only 89 screened couples (1.5%) requested information on individual carrier status. No anxiety was detected among a cohort of the screened population, and 99% of questioned participants expressed satisfaction with the concept of couple screening. CONCLUSIONS--Antenatal couple screening is a satisfactory and acceptable way of screening for cystic fibrosis and has been adopted as routine in the two trial hospitals.     

Effect of serotesting with counselling on condom use and seroconversion among HIV discordant couples in Africa.

OBJECTIVE--To determine whether HIV testing and counselling increased condom use and decreased heterosexual transmission of HIV in discordant couples. DESIGN--Prospective study. SETTING--Kigali, the capital of Rwanda. SUBJECTS--Cohabiting couples with discordant HIV serology results. MAIN OUTCOME MEASURES--Condom use in the couple and HIV seroconversion in the negative partners. RESULTS--60 HIV discordant couples were identified, of whom 53 were followed for an average of 2.2 years. The proportion of discordant couples using condoms increased from 4% to 57% after one year of follow up. During follow up two of the 23 HIV negative men and six of the 30 HIV negative women seroconverted (seroconversion rates of 4 and 9 per 100 person years). The rate among women was less than half that estimated for similar women in discordant couples whose partners had not been serotested. Condom use was less common among those who seroconverted (100% v 5%, p = 0.01 in men; 67% v 25%, p = 0.14 in women). CONCLUSIONS--Roughly one in seven cohabiting couples in Kigali have discordant HIV serological results. Confidential HIV serotesting with counselling caused a large increase in condom use and was associated with a lower rate of new HIV infections. HIV testing is a promising intervention for preventing the spread of HIV in African cities.     

Human chromosome polymorphism and disordered reproductive function. I. Routine chromosome variants]

Routine polymorphic variants of chromosomes of 58 married couples with reproductive failure (two or more spontaneous abortions, stillbirths and malformed children) and 48 control couples, having two or more normal children and no spontaneous abortions and stillbirths, were investigated by conventional staining technique. Extreme variants of chromosomes 1, 9, 16, 17, 13--15, 21--22 and Y were found in 17.2% of subjects with reproductive loss and in 15.6% of control individuals. No significant differences in frequencies of scored routine variants were noted between married couples with reproductive failure and couples with normal reproduction.     

ABO blood groups and fertility in an Indian population

A total of 589 compatible mating couples could be investigated against 432 incompatible mating couples in order to determine the selective mechanism operating on ABO blood groups. There appears to be no striking difference in the proportion of childless couples between the two groups. The mean number of living children presents a significant difference. There is 21% deficiency of 'A' children in the two groups. Similarly, there is 16% deficiency of 'B' children in the two groups. It appears that there is 31.9% fetal wastage in incompatible matings as compared with 17.15% in compatible matings.     

Detection of mosaicism in lymphocytes of parents of free trisomy 21 offspring

Down syndrome (DS) resulting from free trisomy 21 (FT21) has been largely associated with advanced maternal age. However, approximately 60% of FT21 cases are born to young couples. Thus, the etiological factors responsible for these FT21 children must differ from those proposed for maternal age-related FT21. These factors have not been defined. In this study, we analyzed the chromosomes of peripheral blood lymphocytes from three groups of couples aged ≤35 years, to identify chromosomal trisomies: Group I included 5 couples with normal offspring; Group II included 22 couples with one FT21 child; and Group III consisted of 3 couples with recurrent FT21. A total of 13,809 metaphases were analyzed with G-banding and 60,205 metaphases were analyzed with FISH using a 13/21 centromeric probe. Aneuploidy was significantly more frequent in Groups II and III. The frequencies of hyperdiploid cells were 0.19, 0.49 and 0.96% in Groups I–III, respectively. FISH analysis showed that trisomy 21 cell percentages were 0.08, 0.21 and 0.76 for Groups I–III, respectively, and were very similar to those obtained with G-banding. Trisomy 21 mosaicism was found in 2/22 couples with one FT21 offspring, and in 2/3 couples with recurrent FT21. Our data suggest that mosaicism is an important cause of FT21 offspring in young couples, and that aneuploidy is more frequent among couples with FT21 offspring. This may be related with age and other undetermined intrinsic and extrinsic factors.     

Genetic screening in couples experiencing recurrent assisted procreation failure

Infertility is a major health problem affecting about 10-20% of couples in the reproductive age group. Male factor is assumed to be responsible in about 50% cases of infertility. The origin of reduced testicular sperm function is unknown in about 50-70% of cases and for such couples assisted reproduction techniques (ART) are a boon. Male infertility is often due to poor semen quality and may be associated with genetic defects. ART has revolutionized management of infertility and intracytoplasmic sperm injection (ICSI) is the ART procedure of choice in 60-80% cases. Despite major technological advancements and professional expertise in ART, the success rate and carry-home live birth rate of ICSI is low (18-25%). This study was aimed to understand the genetic etiopathology of recurrent ART failure. For this, 110 couples with 3 or more failed ART cycles were recruited. A detailed history was taken and only idiopathic ART failure cases were enrolled for this study. They were subjected to cytogenetic and Yq microdeletion analysis. Genetic abnormalities were detected in 19 couples. Since a large number (18.2%) cases harboured genetic abnormalities, it is important for all couples opting for ART to undergo a thorough genetic analysis to prevent recurrent emotional, physical and financial stress.     

Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.

A very high incidence of late infantile metachromatic leukodystrophy (MLD) (1/75 live births) was found in the Jewish Habbanite community which constitutes a genetic isolate of about 1,000-1,200 individuals. Screening in this population for aryl sulfatase A (ASA) levels in married adults revealed a carrier frequency for MLD of 17% and identified six couples of whom both partners were heterozygotes (6% of screened couples). In three pregnancies of these couples, prenatal diagnosis for the detection of ASA in the fetus was performed.     

Fertility Intentions and Use of Contraception among Monogamous Couples in Northern Malawi in the Context of HIV Testing: A Cross-Sectional Analysis

Context

Knowledge of HIV status may influence fertility desires of married men and women. There is little knowledge about the importance of this influence among monogamously married couples and how knowledge of HIV status influences use of contraception among these couples.

Methodology

We carried out a cross-sectional analysis of interview data collected between October 2008 and September 2009 on men aged 15–59 years and women aged 15–49 years who formed 1766 monogamously married couples within the Karonga Prevention Study demographic surveillance study in northern Malawi.

Results

5% of men and 4% of women knew that they were HIV positive at the time of interview and 81% of men and 89% of women knew that they were HIV negative. 73% of men and 83% of women who knew that they were HIV positive stated that they did not want more children, compared to 35% of men and 38% of women who knew they were HIV negative. Concordant HIV positive couples were more likely than concordant negative couples to desire to stop child bearing (odds ratio 11.5, 95%CI 4.3–30.7, after adjusting for other factors) but only slightly more likely to use contraceptives (adjusted odds ratio 1.5 (95%CI 0.8–3.3).

Conclusion

Knowledge of HIV positive status is associated with an increase in the reported desire to cease childbearing but there was limited evidence that this desire led to higher use of contraception. More efforts directed towards assisting HIV positive couples to access and use reproductive health services and limit HIV transmission among couples are recommended.     

Decreased HLA heterogeneity in parents of children with Down syndrome.

HLA-A and B antigens were determined in a study of 37 couples and their children with trisomy 21 Down syndrome (DS), using a standard microlymphocytotoxicity test. The comparison groups included 76 couples and their healthy children. All individuals were Caucasians from the same geographical area, and there was no history of consanguinity. The parents of children with DS did not show an association with a specific HLA antigen or haplotype. Sixteen of the 37 couples (43.24%) having children with DS share two or more antigens at the A and/or B locus. This was significantly higher than the proportion in the control group (6/76, or 7.88%). Of the 16 couples having children with DS and sharing two or more antigens, eight had a haplotype in common, in contrast with only two couples in the control group. The data suggest that sharing of parental HLA-A and B antigens may be related either to the occurrence of trisomy 21 zygotes or to prenatal survival of affected embryos and fetuses.     

Chromosomal abnormalities as a cause of recurrent abortions in Egypt

BACKGROUND:

In 4%-8% of couples with recurrent abortion, at least one of the partners has chromosomal abnormality. Most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. These chromosomal abnormalities may be either numerical or structural.

MATERIAL AND METHODS:

Cytogenetic study was done for 73 Egyptian couples who presented with recurrent abortion at Genetic Unit of Children Hospital, Mansoura University.

RESULTS:

We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. Chromosomal abnormalities were detected in 9 (6.1%) of 73 couples. Seven of chromosomal abnormalities were structural and two of them were numerical.

CONCLUSION:

Our results showed that 6.1% of the couples with recurrent abortion had chromosomal abnormalities, with no other abnormalities. We suggest that it is necessary to perform cytogenetic in vestigation for couples who have recurrent abortion.     

Sperm transport in the human female reproductive tract in relation to semen analysis characteristics and time of ovulation

Laparoscopic sperm recovery from the pouch of Douglas and tubal fimbriae was performed in 64 infertile couples. Spermatozoa were recovered from 16/35 couples investigated after AIH, and from 13/29 couples post coitum. The method of insemination had no effect on the result, which was positive in 45.3% of all couples, although AIH did result in significantly larger numbers of peritoneal spermatozoa. The number of peritoneal spermatozoa did not show any direct correlation with the number inseminated, but there were reductions along the tract of 5.83 (+/- 1.4 s.d.) orders of magnitude for total sperm count, and 5.52 (+/- 1.21 s.d.) for the number of motile spermatozoa. Only sperm motility had a significant influence on the success of sperm transport; spermatozoa were recovered from patients with sperm densities as low as 3.0 and 3.5 x 10(6)/ml, but with 56 and 44% motile spermatozoa. No influence of cycle day within the range +/- 4 days of ovulation on sperm transport was found. In 45 couples, routine semen analyses were apparently completely normal, but the incidence of sperm recovery was still only 49% (22/45), suggesting that a failure of sperm transport may have been a significant causative factor in their infertility.     

Expectations of assisted conception for infertility.

OBJECTIVE--To provide reliable prognostic information for couples seeking assisted conception. DESIGN--Analysis of four years'' practice (1988-91). SETTING--Private university service linked with NHS reproductive medicine services. PATIENTS--804 couples with various causes of subfertility, median duration five years, median age of women 34 years. INTERVENTIONS--1280 completed cycles: 950 in vitro fertilisation, 144 gamete intrafallopian transfer, and 186 intrauterine insemination and superovulation. MAIN OUTCOME MEASURES--Pregnancy and birth rates per cycle and cumulative pregnancy and take home baby rates per couple. RESULTS--In women under 40 years and men with normal sperm, whatever the cause of infertility, results with in vitro fertilisation improved steadily reaching a pregnancy rate per cycle of 30% (95% confidence interval 26% to 35%) during 1990-1 and birth rate per cycle of 29% (23% to 35%) in 1990. Pregnancy and birth rates for gamete intrafallopian transfer were 36% (28% to 44%) and 26% (17% to 37%) and for intrauterine insemination 18% (12% to 24%) and 16% (10% to 22%). After six cycles cumulative probability of pregnancy was 82% and cumulative take home baby rate 70%. Considering only in vitro fertilisation and gamete intrafallopian transfer after four cycles the pregnancy rate was 78% (66% to 91%). CONCLUSIONS--Conception is less likely in women over 40 and men with sperm dysfunction. For other couples the prognosis for a live birth is at least as good as for fertile couples if they persist with treatment.     

利用AFLP技术分析丹顶鹤的亲缘关系

建立了丹顶鹤(Grus japonensis)AFLP分析体系,经筛选,利用28对选择性扩增引物构建了5对丹顶鹤AFLP亲缘关系分析图谱,共得到1 114个扩增条带,其中多态性条带551条,多态性比例为49.5%。每个引物组合扩增的条带数为20～66条,其中,引物E4M1扩增的条带最多,为66条;引物E6M1扩增的条带数最少,为20条。经统计分析,计算了各样品间的相似性系数在0.71～0.88之间,得到5对丹顶鹤的遗传距离,并构建了UPGMA聚类图,结果1号与2号、3号与4号鹤的亲缘关系较近,其余3对鹤(自然配对)亲缘关系较远。表明丹顶鹤具有识别亲缘关系的行为机制,丰富了丹顶鹤繁殖行为机制的研究内容,并为深入研究建立合理的散养丹顶鹤繁育体系提出了建议。     

Carrier screening for Gaucher disease in couples of mixed ethnicity

With the advent of mutational analysis for Gaucher disease, carrier screening has been incorporated into many Jewish genetic disease screening programs. Frequencies and mutations for Gaucher disease in non-Jewish populations are less well established and the detection rate of carriers are lower. Testing is problematic for resolving residual risk in a couple of mixed ethnicity. We report the testing choices made by 20 consecutive couples of mixed ethnicity where the Ashkenazi Jewish partner was identified to be a Gaucher disease gene carrier. Carrier studies of the non-Jewish partner were elected as follows: DNA studies alone, 5 (25%); enzymatic assay, 2 (10%); both, 6 (30%); no carrier studies, 7 (35%). Of the 7 couples not electing carrier studies, one was not in a pregnancy and 6 elected prenatal diagnosis in lieu of parental testing by enzymatic analysis of amniocytes. One couple elected parental carrier studies as well as prenatal diagnosis. All couples electing prenatal Gaucher determination had amniocentesis for other indications as well (4, advanced maternal age; 4, parental anxiety). We conclude that Gaucher screening is feasible for couples of mixed ethnicity if appropriate counseling and testing are offered.     

Clinical, genetic and cytogenetic studies in couples attending an infertility clinic

The present study was carried out in order to assess the genetic component in a group of sterile or infertile couples from a latin american population. During a six-year-period, 258 patients were investigated. Sixty two per cent of the cases were studied for sterility and 38% for infertility. It was found that 34% had genetic pathology. In infertile couples the frequency of chromosome abnormalities was 2.8%; when sterility was also considered this frequency was 11.6%. Chromosome variants were found in 11.4% of the sterile patients and in 8.8% of the infertile cases.     

A new case of Y to X translocation in a female

Summary Cytogenetic investigation of married couples with the history of two or more recurrent abortions or unsuccessful pregnancies was carried out. The study concerns the occurrence of reciprocal translocations in regard to spontaneous miscarriages. In 115 examined couples 9 reciprocal translocations were observed, i.e., in 7.8%.     

Concordance between partners in desired waiting time to birth for newlyweds in India

Examining waiting time to birth among newlywed couples is likely to provide insights into the desire for spacing births among newlywed husbands and wives. Data from the Indian National Family Health Survey of 2005-06 are used to examine the desired waiting time (DWT) to birth among newlywed couples. The dependent variable is spousal concordance on desired waiting times. Overall 65% of couples have concordant desired waiting times. Among discordant couples, wives were more likely to want to wait longer than their husbands. Couples from richer wealth quintiles were more likely than couples from the poorest quintile to have concordant desired waiting times. Muslims were less likely than Hindus to have concordant desires. There is a need for spacing contraceptive methods among newlyweds in India. This may have implications for the Indian Family Planning Programme, which to date has largely focused on sterilization. Programmes need to include newlywed husbands to promote use of spacing methods.     

Bionomic studies of Cavernicola lenti Barrett & Arias, 1985 (Hemiptera, Reduviidae, Triatominae)

In the biological study, the development of the biological cycle of the insect under different feeding conditions was evaluated. The insects were fed on either mouse blood (c) or pigeon blood (p) using two types of rearing techniques (individual or group) at 28 degrees C and 90% relative humidity (which is equivalent to their natural environment). A fifth cycle studied, was fed on mouse blood reared on group, and maintained at laboratory environmental temperature. In the five cycles analyzed, it was found that groups on mouse blood at near natural conditions developed more rapidly (between 60 and 73 days) and had a lower rate of mortality (16.66%). The daily handling and changes in environment, of the individually reared insects, for observation of biological characteristics (no. and duration of bloodmeal, defecation and first fed of each stage) had a negative influence. None of the individuals fed on mouse or pigeon blood reached adult hood. It was found that the longevity and the fertility rate were significantly superior on couples maintained individually on mouse blood. These males had an average lifespan of 110.26 days and the females had an average lifespan of 104.46 days. The average number of eggs laid by each female was 21.26. Four couples kept in groups (five couples in each group) under the same condition, the longevity for males was 51.86 days and for females was 81.06 days. An average of 10.5 eggs were laid by each female. However, the percentage of fertile eggs was higher in couples kept in groups (72.15%) than in the individual couples (57.68%).     

Do clinical guidelines improve general practice management and referral of infertile couples?

OBJECTIVE--To evaluate guidelines for general practice management and referral of infertile couples. Guidelines were implemented with a disease specific reminder at the time of consultation (the guidelines were embedded within a structured infertility management sheet for each couple). DESIGN--Pragmatic randomised controlled trial. Participating practices were randomised to a group that received the guidelines and a control group. SETTING--82 general practices in Grampian region. SUBJECTS--100 couples referred by general practitioners receiving the guideline and 100 couples referred by control general practitioners. MAIN OUTCOME MEASURES--Whether the general practitioner had taken a full sexual history and examined and investigated both partners appropriately. RESULTS--Characteristics of patients referred by study and control general practitioners did not differ significantly at baseline. Compliance with the guidelines increased for all targeted activities. General practitioners in the study group were more likely to take a sexual history (for example, couples'' use of fertile period, 85% v 69%, p < 0.01); examine both partners (female partner, 68% v 52%, p < 0.05; male partner 39% v 13%, p < 0.01); and investigate both partners (day 21 progesterone, 72% v 41%, p < 0.001; semen analysis, 51% v 41%, p > 0.05). Improvements were greater when general practitioners used the disease specific reminder. CONCLUSION--Receiving guidelines led to improvements in the process of care of infertile couples within general practice. This effect was enhanced when the guidelines were embedded in a structured infertility management sheet for each couple.     

Structural dynamics of bacterial ribosomes: IV. Classification of ribosomes by subunit interaction

Previous studies in this series (M. Noll et al., 1973a,b; Noll & Noll, 1974) have established that in Escherichia coli the ability of subunits to form vacant 70 S ribosome couples at 10 mm-Mg²⁺ is a stringent condition for activity in the translation of natural messenger (R17 RNA). The present study examines the structural basis of subunit interaction. It is found that vacant ribosome couples prepared by various methods fall into two classes, “tight” couples and “loose” couples, that differ in the affinity of their subunits for each other. Detection and separation of the two particle species is possible by ultracentrifugation. When analyzed on sucrose gradients at 6 mm-Mg²⁺ and moderate speed (30,000 revs/min), tight couples sediment as undissociated 70 S ribosomes, whereas loose couples are completely dissociated and sediment as 30 S and 50 S subunits. At 15 mm-Mg²⁺ in the gradient, both species sediment as a 70S peak. At 10 mm-Mg²⁺ and 60,000 revs/min, two peaks (63 S and 55 S) are seen because the high hydrostatic pressure causes more pronounced dissociation of the loose than of the tight couples.Association is dependent on the state of each subunit. Removal of Mg²⁺ produces 30 S b-particles that are unable to associate with 50 S subunits unless reconverted to the 30 S a-form by thermal activation according to Zamir et al. (1971). In the dissociated state, 50 S subunits tend to change irreversibly to a 50 S b-modification that produces loose couples upon association with 30 S a-subunits. The 50 S a → 50 S b transition could not be related to breaks in 23 S RNA detectable by sedimentation analysis. However, mild treatment of 50 S a-subunits with RNase produces particles that associate with 30 S a-subunits to couples that are less stable than the loose couples resulting from a dissociation/association step.Fresh S-30 extracts contain only tight couples (approx. 80%) and subunits (approx. 20%). Our results suggest that loose couples are artefacts derived from tight couples by a structural or conformational modification.Interaction-free subunits that previously were found to form a primitive initiation complex with poly(U) and tRNA_Phe (Schreier & Noll, 1970,1971), and to be active in phenylalanine polymerization, are shown to consist of the b-form of each subunit.It is likely that conflicting results obtained in the study of the mechanism of initiation and other aspects of ribosome function are due to the lack of structural criteria required for standardizing the ribosome preparation used by different investigators. This study provides simple methods and criteria to classify and separate physically all ribosome and ribosome subunits that have been observed into well-defined classes of predictable activity.