Client reactions to genetic counseling: self-reports of influence

Of 628 clients completing questionnaires six months after genetic counseling, 273 (43.5%) reported that their reproductive plans had been influenced by the counseling session. Of those who said that they were influenced, 144 (52.7%) held the same reproductive plans that they reported before counseling: 41 (15%) were planning more pregnancies, 36 (13.2%) were planning fewer, and 52 (19.1%) became reproductively uncertain. A similar pattern of stability and change appeared in the reproductive plans of those who reported that they were not influenced by genetic counseling. Stepwise logistic regression indicated that clients who reported that their plans were influenced: came to counseling to get information for making a decision about whether to have a child; discussed this decision in depth with the counselor; and had more education than clients who said that they were not influenced. We found no evidence that counseling was supplanting clients' own personal values. In the discussion, we suggest several reasons why clients of higher socio-economic status are more likely than others to report that they are influenced, and discuss the ethical implications of these results.     

Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics

Reproductive genetic counseling for a familial genetic risk factor preferably takes place before conception. However, of the women with a family history of genetic conditions who attend our department of clinical genetics, about 10-20% attend for the first time during a pregnancy. The current study aims to explore patient-related factors that may affect this late timing of reproductive genetic counseling. Consecutive pregnant (n = 100) and non-pregnant (n = 84) women visiting the department of clinical genetics for a genetic risk factor which was not age related completed a questionnaire immediately prior to the consultation. The questionnaire asked for (a) background characteristics, i.e. socio-demographic, obstetric, and disease characteristics (b) cognitive factors, i.e. initiative of referral, knowledge of the risk factor involved, risk perception, worry, child wish, attitudes toward abortion, and preferred participation in decision making, and (c) reasons for the timing of the consultation and for seeking genetic counseling. Pregnant women appeared to be higher educated, considered their children more often as healthy and were less often affected themselves, as compared to non-pregnant women. They also estimated their chance of having an affected child as lower, and they worried less. Furthermore, the initiative for referral was taken less often by the pregnant woman herself and more often by a medical worker. There were no major differences between the two study groups in knowledge, perceived severity of the risk factor, child wish, attitudes toward abortion, desired participation in decision making, and reasons to seek genetic counseling. Women indicated no specific reasons for their timing of referral for reproductive genetic counseling, e.g. during vs before pregnancy. Our data suggest that this timing of referral is not influenced predominantly by the women's level of knowledge. Rather, women's estimation of genetic risks and their degree of worry, which may be in accordance with the actual risk figures, seem to play a role in seeking genetic counseling. Although further studies are required, a more active role of health care providers seems warranted if we want to prevent genetic counseling for familial genetic conditions during pregnancy as much as possible.     

Use and non-use of genetic counseling after diagnosis of a birth defect

We examined factors and experiences associated with parents' use or non-use of genetic counseling services within 5 years of the diagnosis of a birth defect in their child. Eligible parents were identified using birth defects data for births in 2004 in Victoria, Australia, and invited to complete a written questionnaire and optional telephone interview. Participants were asked about sources of genetic information, experiences and satisfaction with obtaining this information, and impressions of genetic services. Reasons given for not attending genetic counseling services included not knowing the service was available, or not feeling a need to attend. Non-users commonly stated they would not consider termination of pregnancy for the type of birth defect experienced or that they obtained information from other sources, such as pediatricians. This study indicates that parents, whose child has been diagnosed with a birth defect, could benefit from being informed about available genetic counseling services. The results show that some non-users of genetics services may have misconceptions about the purpose of genetic counseling and correcting these may increase utilization. This is important in order to ensure all parents receive sufficient information and support after diagnosis of a birth defect in their child.     

Reproductive plans of genetic counseling clients not eligible for prenatal diagnosis

A prospective study of the reproductive plans of 185 genetic counseling clients at risk for birth defects not diagnosable prenatally found, 6 months after counseling, 1) a small increase in the number of pregnancies initiated and planned, compared to pregnancies planned before counseling; 2) an increase in initiated and planned pregnancies among clients at both high as well as low risk; and 3) reproductive plans after counseling more closely correlated with clients' perceptions of the social, familial, and economic burdens of an affected child than with medically defined risk and specific clinical characteristics of the birth defects. In discussing the burden of a birth defect with clients, counselors are encouraged to discuss not only the medical burden, but the social, familial, and financial burdens as well.     

Impact of PKU on the reproductive patterns in collaborative study families

Factors that relate to reproductive patterns in 129 families after the birth of a child with phenylketonuria (PKU) include birth order of the index child, age of the parents at the birth of the index child, and expressed intentions of the parents whether or not to have additional children. Factors that do not correlate with reproductive histories include knowledge of the genetic and metabolic nature of PKU, the relationship of PKU to mental retardation and special diet, parental upset about the diagnosis, sex of the affected child, parental IQ, religion, education, and social class. Correlations found related to the question, "Is PKU the reason you don't want more children?" include stress factors in family functioning, mother's upset with the diagnosis, father's concerns about being a carrier, sex of the child with PKU, and degree of knowledge about PKU. Many of the Collaborative Study clinics tend to be more concerned about the consequences of PKU on the family than on society, and feel that families should receive genetic counseling to determine their reproductive risks and future plans. Upon self-report, many clinics declare their counseling to be either "completely nondirective" or making a "conscious effort to be nondirective."     

Consanguinity and recurrence risk of birth defects: a population-based study

Recurrence risks give insight into the causes of birth defects and are useful in genetic counseling. There are few population-based studies of recurrence of birth defects for subsequent sibs with consanguineous parents. The aim of this study was to estimate and compare the recurrence risk of birth defects for offspring of first cousins and nonconsanguineous parents. The study population consisted of all single births with a previous sib born in Norway between 1967 and 1995. Altogether 660,398 children had nonconsanguineous parents, and 3,583 had parents who were first cousins. For nonconsanguineous parents the risk of a birth defect for the subsequent sib was 15 per 1,000 births (95% confidence interval: 14.5-15.1) if the previous child did not have a birth defect and 33 (95% confidence interval: 30-37) if the previous child had a birth defect. For parents who were first cousins the risk of a birth defect for the subsequent sib was 36 per 1,000 (95% confidence interval: 30-42) if the previous child did not have a birth defect and 68 (95% confidence interval: 33-122) if the previous child had a birth defect. The risk of recurrence of birth defects is higher for subsequent sibs with first-cousin parents than for those with nonconsanguineous parents. This difference indicates the degree to which the increased homozygosity among offspring of consanguineous parents influences the risk of recurrence of birth defects.     

Couple agreement before and after genetic counseling

Before receiving genetic counseling, 699 couples completed questionnaires that were identical for both spouses. Of 385 couples where both spouses indicated a major reason for seeking counseling, 45% identified the same major reason while 55% identified different reasons. In 74% of 542 fertile couples, both spouses had identical short-term reproductive plans: 60% desired the same ideal number of children; and 44% perceived the same level of risk of having an affected child. Agreement on the seriousness of eleven potential problems occasioned by an affected child ranged from 55% to 67%. Couples were asked to return questionnaires within 7 to 10 days after counseling. At this time 76% of spouses agreed about short-term reproductive plans; 66% agreed about longer-term reproductive plans; and 60% agreed about ideal number of children. There were statistically significant increases in agreement about risk interpretation and about six of eleven potential problems in raising an affected child. The data suggest that a substantial number of couples come to genetic counseling with varying concerns and reproductive plans. There is, in general, as much disagreement on these issues between spouses after as before counseling. Implications for counseling are discussed.     

Psychological response to prenatal genetic counseling and amniocentesis

The purpose of the present study was to characterize the psychological status (attitudes toward selective abortion, perceived risk, comprehension, patient satisfaction, coping, and state anxiety) of pregnant women at increased risk for fetal genetic anomalies who were referred for prenatal genetic counseling and amniocentesis; to determine which of these factors would predict amniocentesis use; and to identify patient outcomes associated with counseling and testing. Participants were 129 women aged 18 years and older who had one or more fetal genetic risk factors. All were recruited from an urban women's health clinic. The results revealed elevated perceptions of risk and moderate state anxiety despite adequate comprehension of, and patient satisfaction with, the process and content of genetic counseling. Approximately 78% agreed to testing; those who consented were more likely to hold favorable attitudes toward abortion than those who refused. Post-counseling, women experienced decrease in their perceived risk of having a baby born with a birth defect although perceived risk estimates remained higher than actual risks. Anxiety was clinically elevated and highest at the pre-counseling stage, though it dissipated to normal levels over time. Previous experience with prenatal diagnostic testing, increased perceived risk of a birth anomaly, and favorable attitudes toward abortion were independently associated with increased pre-counseling anxiety. Women who were more anxious pre-counseling remained more anxious post-counseling. Coping (high versus low monitoring) was unrelated to anxiety. These findings suggest that women who participate in prenatal counseling and testing may be subject to experience distress and unrealistic perceptions of their risk and may benefit from interventions designed to lessen these states.     

育龄妇女狂犬病暴露后接种疫苗对妊娠的影响

目的通过分析狂犬病监测信息报告管理系统的数据库资料,探讨育龄妇女狂犬病暴露后的流行病学特点及接种疫苗对优生优育的影响。方法流行病学资料来源于中国疾病预防控制信息系统疾病监测信息报告管理系统;犬致伤数据来源于门头沟区三家狂犬病免疫预防门诊动物致伤数据库。以EpiData数据库录入数据。结果接受狂犬疫苗注射的25 258人中,育龄妇女4216人,占9.5%。三类伤口的育龄妇女中,66.2%接受了被动免疫,与一般人群三类伤口接种率72.35%相比有显著性差异（P〈0.0001）。拒绝接受被动免疫最主要的原因为害怕其对妊娠的影响。流产、妊娠高血压、妊娠糖尿病、出生低体重以及小先天缺陷在接种狂犬疫苗妊娠妇女和一般妊娠妇女中发生率均无显著性差异。不孕症在接种狂犬疫苗育龄妇女与一般育龄妇女中发病率亦无显著性差异。结论接种狂犬疫苗对妇女妊娠及生育无明显影响。     

Reproductive decision-making among HIV-Infected women

OBJECTIVE: To describe factors related to reproductive decision-making among HIV-infected women. MATERIALS AND METHODS: A sample of HIV-infected women (N=104) who received care at an HIV clinic in the southern United States were interviewed about their reproductive decision-making. Women who became pregnant subsequent to HIV diagnosis were compared to women who did not become pregnant, and women who underwent a sterilization procedure subsequent to HIV diagnosis were compared to women who did not get sterilized. RESULTS: Compared to women who did not get pregnant after receiving an HIV diagnosis, women who became pregnant were more likely to be young, single, diagnosed earlier in the epidemic and to have more recently used a noninjecting drug. Among women who did not get pregnant, 63% reported their diagnosis greatly affected that decision. Having a partner who wants more children was not associated with pregnancy. Compared to women who did not get sterilized after learning their HIV status, women who did get sterilized tended to be Baptist and already had a prior live birth. Neither a woman's desire nor her partner's desire for more children was associated with sterilization. CONCLUSIONS: HIV is an important influence on HIV-infected women's reproductive choices, regardless of the decision being made. Reproductive counseling by HIV care providers needs to be sensitive to all the issues faced by these women.     

Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)

Cystic fibrosis (CF) has an incidence of one in 2,636 livebirths and a carrier rate of one in 26 inhabitants in Brittany. One objective of a major enquiry among parents having a CF child as well as CF adolescents and adults was to evaluate the reproductive behavior of 124 couples attending a CF care center. Knowledge of recurrence risk resulted in deciding against further progeny or in reducing the number of children (average number of children: 1.96; ideal mean number of children: 3.7). Thirty-five percent adopted or changed their method of contraception after the birth of their affected child, but the change was due to the birth of the CF child in only 14.3% of the couples. Prenatal diagnosis (PD) was favored by 95.1%, and 41.2% had used it; 68.6% were in favor of pregnancy interruption for CF and 76.2% would interrupt the pregnancy should PD reveal that their fetus had CF. All 123 respondents thought that genetic counseling was useful, but only 87.1% knew of its availability. Our results are quite different from those previously published. Although results could be population-specific, one cannot exclude the fact that they reflect a change of attitudes among parents, the other studies being much older.     

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.     

Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy

Diagnosis of a child with Duchenne or Becker muscular dystrophy (DBMD) may impact future maternal reproductive choice; however, little is known about the reproductive patterns of mothers with a male child diagnosed with DBMD. Using population‐based surveillance data collected by the muscular dystrophy surveillance, tracking, and research network, the proportion of mothers who conceived and delivered a live birth following the diagnosis of DBMD in an affected male child and factors associated with such reproductive choice were identified. To accomplish this, maternal demographic data were linked to birth certificate data to construct the reproductive history for 239 mothers. Univariable and bivariable analyses were conducted to determine the proportion of mothers delivering a live birth and associated factors. By the time of the current study, 96 (40.2%) of the 239 mothers had at least one live birth following delivery of their oldest affected male child; 53 (22.2%) of these mothers had a live birth before and 43 (18.0%) had a live birth after DBMD diagnosis of a male child. Mothers with a live birth after diagnosis were significantly younger at diagnosis of the oldest affected male child (26.2 ± 4.2 years vs. 31.5 ± 5.5 years), and were less likely to be white non‐Hispanic compared to those with no live birth after diagnosis. These results suggest that about one in five mothers deliver a live birth subsequent to DBMD diagnosis in a male child. Maternal age and race/ethnicity were associated with this reproductive choice. © 2012 Wiley Periodicals, Inc.     

Impact of the sex of first child on the prognosis in secondary recurrent miscarriage

BACKGROUND: The carriage of a male fetus often initiates maternal immunological reactions against male-specific minor histocompatibility (HY) antigens, which, in theory, could result in subsequent recurrent miscarriage (RM). METHODS: Information about subsequent pregnancy outcome was procured among 182 women with RM after a birth (secondary RM) referred since 1986 using questionnaires, telephone interviews and registers. RESULTS: Significantly more of the women had had a male first-born as compared with a female first-born (110 versus 72; P < 0.02). By January 2002, 58% of those who had a male first-born had given birth to a second live infant compared with 76% of those who previously had had a female first-born (P = 0.01). Women in the former group had a significantly lower chance of having a second child than those in the latter (adjusted hazard ratio 0.59; 95% confidence interval 0.41-0.86). The number of miscarriages after admission and the risk of secondary infertility were significantly greater in women with a male first-born than among those with a female first-born (P < 0.001 and P = 0.02; respectively). CONCLUSIONS: A male first-born seems to be associated with a less favourable reproductive potential among women with secondary RM. Maternal immunization against HY antigens may be responsible for these findings.     

Uncertainty in BRCA1 cancer susceptibility testing

This study investigated uncertainty in individuals undergoing genetic counseling/testing for breast/ovarian cancer susceptibility. Sixty-three individuals from a single kindred with a known BRCA1 mutation rated uncertainty about 12 items on a five-point Likert scale before and 1 month after genetic counseling/testing. Factor analysis identified a five-item total uncertainty scale that was sensitive to changes before and after testing. The items in the scale were related to uncertainty about obtaining health care, positive changes after testing, and coping well with results. The majority of participants (76%) rated reducing uncertainty as an important reason for genetic testing. The importance of reducing uncertainty was stable across time and unrelated to anxiety or demographics. Yet, at baseline, total uncertainty was low and decreased after genetic counseling/testing (P = 0.004). Analysis of individual items showed that after genetic counseling/testing, there was less uncertainty about the participant detecting cancer early (P = 0.005) and coping well with their result (P < 0.001). Our findings support the importance to clients of genetic counseling/testing as a means of reducing uncertainty. Testing may help clients to reduce the uncertainty about items they can control, and it may be important to differentiate the sources of uncertainty that are more or less controllable. Genetic counselors can help clients by providing anticipatory guidance about the role of uncertainty in genetic testing.     

Utilization of genetic counseling after diagnosis of a birth defect—trends over time and variables associated with utilization

PurposeTo examine utilization of genetic counseling after diagnosis of a birth defect in 2004, and trends in utilization from 1991 to 2004.MethodsBirth defects data for births in 2004 were linked to genetic counseling data to determine utilization of genetic counseling in Victoria, Australia. Variability in utilization was determined according to the need for genetic counseling (as indicated by the particular birth defect), and demographic and perinatal variables. Trends in utilization were determined by comparing 2004 data with that of earlier studies using the same data sources for birth defects cohorts in 1991, 1993, and 1995.ResultsFrequency of overall utilization was 20% and was not affected by maternal country of birth, socioeconomic advantage/disadvantage, or region of residence. Higher-than-average utilization was strongly predicted by “high-need” (48.4%), infant death (stillbirth 50%, postnatal death 50.4%), or birth in a tertiary level hospital (28.5%). There was an upward trend in the proportion of the high-need group using genetic counseling, progressively increasing from 39.7% in the 1991 cohort to 42.5% in the 1993 cohort, 46.5% in the 1995 cohort, to a high of 48.4% in the 2004 cohort.ConclusionsUtilization by those who most need it has gradually increased from 1991 to 2004, with no inequity of access apparent in the most recent cohort. Further studies are needed to determine whether high-need families not using genetic counseling are not doing so because of chance or choice.     

Reproductive development and parental investment during pregnancy: Moderating influence of mother's early environment

The association between a woman's age at menarche and the birth weight of her children is highly variable across human populations. Life history theory proposes that a woman's early environment may moderate this association and thus account for some of the variation between populations. According to one life history theory model, for individuals who develop in a childhood environment of high local mortality rates (experienced subjectively as psychosocial stress), it can be adaptive to mature earlier, have more offspring during their reproductive lifetime, and reduce investment in each offspring. In an environment of low psychosocial stress, however, it may be adaptive to mature later, have fewer offspring, and invest more in each. In this study, birth weight and proportionate birth weight (neonate's birth weight as a percentage of its mother's prepregnancy weight) were used as measures of parental investment during pregnancy. In a sample of 580 first‐time mothers, we tested the hypothesis that the psychosocial stress experienced as a child would moderate the association between age at menarche and investment during pregnancy. We found that earlier menarche in those women who experienced stressful life events before 15 years of age was associated with a lower birth weight and proportionate birth weight. Conversely, in those who reported no childhood stressors, earlier menarche was associated with increased birth weight and proportionate birth weight. Our data suggest that the moderating influence of the childhood psychosocial environment on the association between age at menarche and parental investment throughout gestation operates in a dose‐dependent manner. Am. J. Hum. Biol., 2010. © 2009 Wiley‐Liss, Inc.     

Psychological responses to prenatal NTS counseling and the uptake of invasive testing in women of advanced maternal age

This study examines women's psychological responses to prenatal group genetic counseling, and to subsequent individualized risk counseling. All women (N=123) aged 35 and older underwent nuchal translucency screening (NTS), a prenatal ultrasound screening test. After group counseling, decisional conflict decreased significantly among those reporting at baseline having made a decision about invasive testing (t(222)=2.0, P=0.014) and for those who were uncertain (t(222)=5.74, P <0.0005). After receiving NT-adjusted risks, decisional conflict decreased further for those uncertain about testing at baseline (t(222)=4.64, P <0.0005). There was no change in risk perception and anxiety after group counseling. After NT-adjusted risks were communicated, risk perception decreased significantly (t(230)=5.02, P <0.0005), as did anxiety (t(115)=7.91, P <0.005). Despite reassuring NTS results, the uptake rate for prenatal invasive testing was 78.4%. Risk perception, anxiety, and decisional conflict decreased after individual counseling for reassuring NTS results, but the uptake of invasive testing remained high.     

Factors influencing the reproductive decision after genetic counseling

Here we report a follow-up study involving interviews with 164 couples 2-3 years after genetic counseling to assess the influence of various factors on their reproductive planning. The results show that the desire to have children and the absence of personal experience with the disorder (no close relative being affected) are important single factors for the decision to opt for having children after genetic counseling. The magnitude of the genetic risk is of relative importance in reproductive planning. Seventy percent of the couples with a high genetic risk (greater than 15%) opted for having children. When the disorder was perceived as severe and the risk was interpreted as high, 72% opted for having children. The availability of prenatal diagnosis became important only in combination with a high genetic risk (greater than 15%). Forty-seven percent of the couples with a high genetic risk refrained from having children when prenatal diagnosis was not available. In the absence of prenatal diagnosis, couples who had an affected child were more cautious about trying again than those who did not--50% versus 14% decided to abstain. This study has provided some insight into the complexity of reproductive decision-making after genetic counseling. The findings may help genetic counselors and clinical geneticists understand and support counselees in their decision-making process, which is "multi-factorial."     

Efficacy of strategies to reduce mother-to-child HIV-1 transmission in Argentina, 1993-2000

This study evaluated the success of a national program for the prevention of mother-to-child transmission (MTCT) of HIV-1 in 874 mother-infant pairs from Buenos Aires and surroundings. This population was referred to the National Reference Center for AIDS for diagnosis of neonatal infection during 1993-2000. The data revealed an increase in the use of antiretroviral therapy during pregnancy from 3.2% in 1993-1994 to 73.1% in 1999-2000 and in the use of cesarean delivery (reaching 54.8% in 1999-2000). However, the proportion of HIV-infected women who continued to breast-feed their children remained steady (around 12%). General improvement of the conditions for decreasing MTCT resulted in a significant decrease in the proportion of infected infants from 37.3% before 1995 to 10.7% in 1999-2000 and even 6.5% during 2001. Data on the time of diagnosis indicated that only 42.7% of the women knew about their HIV status before pregnancy, 44.8 knew during pregnancy, and 12.3% knew after the birth of their child. The main risk factor for HIV infection in the mothers was heterosexual contact (73%), and in the fathers, it was injection drug use (67%). These results point out the urgent need to develop additional strategies for prevention of MTCT of HIV-1 to generalize education, counseling, and testing of young women.