Genetic counseling gone awry: miscommunication between prenatal genetic service providers and Mexican-origin clients

Amniocentesis, and other prenatal genetic tests, have become a well-established feature of modern prenatal care. But these tests place a considerable decision-making burden on the expectant mothers to whom they are offered: the genetic issues involved are complex and the appropriate course of action sometimes ambiguous. Genetic counseling aims to help pregnant clients make an informed decision about prenatal genetic tests. But the clientele of prenatal genetic counseling has changed significantly in the years since the practice was established. Clients were once a self-selected group of women well-informed about the genetic services being offered. In contrast, clients now include an increasing number of women, particularly ethnic minority women, who had no prior knowledge of genetic testing, but were found to be at risk of birth defects after routine screening. Little is known about how well genetic counseling serves the needs of this new clientele. This paper investigates the possibility that miscommunication between genetic counselors and their Mexican-origin clients contributed to the higher rates of amniocentesis refusal. We interviewed 156 pregnant Mexican-origin women who screened positive on a blood test routinely offered in California to detect birth defects. We also observed the genetics consultations of a sub-sample of the women. We identified five common sources of miscommunication: (1) Medical jargon; (2) The non-directive nature of counseling; (3) The inhibitions of counselors stemming from misplaced cultural sensitivity; (4) Problems of translation; (5) Problems of trust. We found that many Mexican-origin women are skeptical of genetic testing and do not easily surrender their own lay theories about the causes of their condition. In order to dislodge the misunderstandings of their clients, counselors must give clients the opportunity to air their own views, however contrary to those of genetics professionals these may be.     

Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making

A common assumption is that women who decline prenatal testing distrust biomedicine and trust embodied/experiential knowledge sources, while women who accept testing trust biomedicine and distrust embodied/experiential sources. Another major assumption about prenatal testing utilisation is that women who are open to abortion will undergo prenatal testing while those who are opposed to abortion will decline testing. Yet, previous research has produced inconsistent findings as to what, if anything, distinguishes women who accept or decline the offer of prenatal diagnosis. Analysing interviews with 147 pregnant women, this paper questions these assumptions about the role of abortion views and pregnant women's relative trust in various knowledge sources on their decisions to accept or decline an amniocentesis offer after a positive result on an initial diagnostic screening. We found that pregnant women's attitudes toward different knowledge sources were equally, if not more, important factors than abortion views in affecting whether individual women accepted or declined amniocentesis. At the same time, our data reveal that the relationship between 'expert' and 'lay' knowledge sources is often complex and synergistic.     

Disparities in Sexually Transmitted Infection/HIV Testing,Contraception, and Emergency Contraception Care Among Adolescent Sexual Minority Women Who Are Racial/Ethnic Minorities

PurposeSexual minority women and racial/ethnic minority women in the United States are at increased risk for sexually transmitted infections (STIs) and unintended pregnancy. Yet, we know little about STI/HIV testing and contraceptive care among women who have sex with women only and women who have sex with both women and men, and who are racial/ethnic minorities. This study examined receipt of STI/HIV testing and contraceptive care among sexually active adolescent women by sex of sexual contact(s) and race/ethnicity.MethodsOur sample included 2,149 sexually active adolescent women from the National Survey of Family Growth (2011–2019). We examined receipt of sexual and reproductive health (SRH) services by sex of sexual contact(s) and race/ethnicity: STI and HIV testing, contraceptive counseling, contraceptive method, emergency contraception (EC) counseling, and EC method.ResultsService receipt was low for all adolescent women, with disparities by sex of sexual contact(s) and by race/ethnicity. Women who have sex with women only had the lowest rates across all services; women who have sex with both women and men had higher rates of STI and HIV testing and EC counseling than women who have sex with men only. Non-Hispanic Black women had higher rates of STI and HIV testing than non-Hispanic White peers, and non-Hispanic Black and Hispanic women had lower rates of contraception method receipt than their non-Hispanic White peers. Racial/ethnic disparities persisted when results were stratified by sex of sexual contact(s).DiscussionThere is an unmet need for improved SRH service delivery for all adolescent women and for services that are not biased by sex of sexual contact(s) and race/ethnicity.     

唐氏综合征高风险孕妇拒绝羊膜腔穿刺术原因调查

提高唐氏综合征高风险孕妇的羊膜腔穿刺率,降低出生缺陷儿的发生。方法对来产前咨询门诊就诊具有羊膜腔穿刺指征而拒绝行羊膜腔穿刺者进行原因调查。结果2年产前咨询预约羊膜腔穿刺3845人,其中有l614例如约行羊膜腔穿刺术,羊膜腔穿刺率为41．98％,2231例拒绝羊膜腔穿刺的孕妇中孕妇自身心理因素占了绝大部分,包括担心流产（57．15％）、怕痛苦（8．74％）、心存侥幸（11．52％）、对医院的错误认识（3．68％）等。〈35岁组和≥35岁拒绝穿刺的主要原因不同。结论某妇幼保健院拒绝羊膜腔穿刺比例较高,原因以心理因素为主,不同年龄段所担心的原因不同,应分别对待给予相应的心理干预。     

'Because of the risks': how US pregnant women account for refusing prenatal screening.

Most research on prenatal fetal testing in general, and maternal alpha-fetoprotein (AFP) screening in particular, has focused on women who accept and even actively seek prenatal diagnosis. Much of this work suggests that agreeing to prenatal diagnosis is inextricably linked to the processes associated with the 'medicalization' of reproduction and that most women do not see refusal as an option. In contrast, little attention has been paid to women who decline fetal diagnosis. Instead, it is generally assumed that women who do so are resisting this thrust toward medicalization and/or are opposed to abortion. Our research is designed to address this imbalance. We analyze how a group of US women who refused the offer of AFP screening account for their decisions and compare their explanations with those of women who took the test. Contrary to our expectations, we found that refusal did not signify rejection of and/or resistance to the offerings of science and technology. Rather, women who refused often employed biomedical categories, particularly the concept of 'risk', to reject its very offerings. Furthermore, refusers and acceptors were more alike than different in their views on abortion, medicalization and pregnancy. We conclude that the key difference between the two groups lies in their interpretation and application of biomedical concepts and modern risk-assessment.     

Knowledge, action and resistance: the selective use of pre-natal screening among Bedouin women of the Negev, Israel

The selective use of prenatal screening by Bedouin women attending Ministry of Health, maternal and child health clinics in Israel is examined. The data consist of a review of 537 prenatal care records, 16 in depth interviews with mothers, and four interviews with health personnel. These data are part of a larger study that took place between 1994-99 amongst Negev Bedouin women, part of the Palestinian Arab minority within Israel. The record review shows that the majority of women who attend prenatal care do not take up referrals for Maternal Serum Alpha Feto Protein (MSAFP) testing or for amniocentesis tests. Although many women interviewed talked about the value of prenatal screening, they also spoke of 'false alarms' that may result from testing. Similarly, women were aware that the socially preferred pattern of consanguinity in marriage amongst the Bedouin may cause medical problems, however test uptake was unrelated to consanguinity. There was a variety of views concerning the permissibility of terminating a pregnancy. This study shows that women use prenatal screening selectively in a way that helps them to balance social and medical risk.     

孕妇孕中期产前筛查28450例随访分析

[目的]评价孕中期孕妇血清筛查在诊断胎儿21-三体综合征、18-三体综合征和神经管畸形中的作用。[方法]应用时间分辨荧光免疫技术检测孕中期(15～20周)孕妇血清中的二项指标(Free-β-hCG、AFP),结合孕妇的年龄、体重、孕周,用专用软件计算风险值。对筛查出的高风险孕妇经优生遗传咨询,行羊水穿刺和产前超声检查。[结果]在筛查的28 450孕妇中,检出高风险1 000例,阳性率为3.51%,其中21-三体高风险598例,18-三体高风险136例,神经管畸形高风险266例。自愿接受羊水穿刺的高风险孕妇中,检出21-三体综合征7例,18-三体综合征4例;产前超声检出无脑儿7例,脊柱裂2例。通过对所有筛查孕妇的随访共发现311例出生缺陷。[结论]通过产前筛查,结合产前诊断可以有效减少染色体病和神经管畸形患儿的出生,是降低出生缺陷有效的群体筛查方法。     

染色体微阵列芯片分析技术应用于产前诊断的关键问题探讨

染色体微阵列芯片分析（CMA）包括比较基因组杂交微阵列（array CGH）和单核苷酸多态微阵列（SNP array）,可以在全基因组范围内高分辨检测染色体的微缺失和微重复,与传统染色体核型分析和荧光原位杂交（FISH）检测相比,具有高通量、高分辨率和高自动化检测的优势,同时可以一次性同步检测许多与出生缺陷和先天性疾病相关的基因组异常,近年来已经开始应用于侵入性产前诊断。回顾近年来多个大样本和多中心的临床试验对CMA技术用于产前诊断的研究结果,借鉴美国妇产科医师协会（ACOG）和母婴医学协会（SMFM）发布的CMA在产前诊断应用中的建议,对CMA在应用过程中如何选择微阵列芯片类型、检测的适用对象和检测的时期、检测结果的解释以及相关的遗传咨询等关键问题进行了详细讨论,并指出CMA在产前诊断应用中面临的机遇和挑战,以及检测前和检测后遗传咨询在实际应用中的重要性和必要性。     

染色体微阵列芯片分析技术应用于产前诊断为关键问题探讨

染色体微阵列芯片分析（CMA）包括比较基因组杂交微阵列（array CGH）和单核苷酸多态微阵列（SNP array）,可以在全基因组范围内高分辨检测染色体的微缺失和微重复,与传统染色体核型分析和荧光原位杂交（FISH）检测相比,具有高通量、高分辨率和高自动化检测的优势,同时可以一次性同步检测许多与出生缺陷和先天性疾病相关的基因组异常,近年来已经开始应用于侵入性产前诊断。回顾近年来多个大样本和多中心的临床试验对CMA技术用于产前诊断的研究结果,借鉴美国妇产科医师协会（ACOG）和母婴医学协会（SMFM）发布的CMA在产前诊断应用中的建议,对CMA在应用过程中如何选择微阵列芯片类型、检测的适用对象和检测的时期、检测结果的解释以及相关的遗传咨询等关键问题进行了详细讨论,并指出CMA在产前诊断应用中面临的机遇和挑战,以及检测前和检测后遗传咨询在实际应用中的重要性和必要性。     

Invasive prenatal diagnosis in the Netherlands, 1991-2000: number of procedures, indications and abnormal results detected

OBJECTIVE: To provide an overview of invasive prenatal diagnosis in the Netherlands during the period 1991-2000 and to analyse potential trends. DESIGN: Retrospective. METHOD: The annual results from all 13 Dutch centres for invasive prenatal diagnosis over the period 1991-2000 were combined and described, with particular emphasis on indications, number and type of invasive procedures, and number and type of abnormal results. RESULTS: The percentage of pregnancies in which invasive prenatal diagnostics were carried out increased from 5% in 1991 to 6% in 1996 and remained at the same level until 2000. 'Maternal age' was the main reason for prenatal testing (69.2-73.3% of procedures). However, the number of pregnant women aged 36 or over increased by 69.9%. An abnormal result was found in an average of 4.7% of procedures, rising from 3.6% in 1991 to 5.4% in 2000. In 70.8% of cases with abnormal results, the pregnancy was terminated. Important trends were the relative decrease of cordocentesis (-82%) and chorionic villi biopsy (-18%) in favour of amniocentesis (+48%), and a strong decrease in the number of amniocentesis procedures on indication of increased risk of neural tube defect. CONCLUSION: The total number of invasive prenatal diagnostic procedures remained stable. However, there was an important decrease in the percentage of pregnant women aged 36 or over who underwent invasive prenatal diagnosis without previous prenatal screening.     

Reported Health Behaviour Changes after a Diagnosis of Gestational Diabetes Mellitus among Ethnic Minority Women Living in Canada

The aim of this cross-sectional study was to examine differences in health behaviours among ethnic minority and Caucasian women after a diagnosis of gestational diabetes mellitus (GDM). Data were derived from medical charts and a questionnaire among a multi-ethnic cohort of 898 Canadian pregnant women diagnosed with GDM attending prenatal diabetes clinics in Ontario, Canada. Health behaviours were compared between ethnic minority and Caucasian women, adjusting for relevant covariates. The mean age was 33.9 ± 6.1 years; 60.0 % self-reported to be part of an ethnic minority group. After adjustment for socio-demographic, behavioural and clinical characteristics, ethnic minority women were more likely to report reducing their meal portion sizes (odds ratio [OR] 1.98; 95.0 % confidence interval [CI] 1.20–3.26) and increasing their physical activity (OR 1.71; 95.0 % CI 1.12–2.62) in response to a GDM diagnosis compared to Caucasian women. Ethnic minority women were more likely to report changes in health behaviours after a GDM diagnosis. Further research is needed to determine the impact of these findings on maternal health and perinatal outcomes, during and after delivery.     

中国已婚育龄妇女产前保健服务研究

目的:分析我国已婚育龄妇女产前保健服务状况及其变化。方法:利用《1997年全国人口与生殖健康调查》和《2001年全国计划生育/生殖健康调查》两次调查资料,采用STAT/TRASFER软件转换数据库,经过变量重新设置,连接两次调查的数据库,用SAS8.02软件对数据进行统计分析。结果:①与1997年调查前3年相比,2001年调查前3年育龄妇女的产前检查率增加较小。②1998～2000年间,95%以上城镇妇女接受产前保健服务,76%的农村妇女接受产前检查。③1998～2000年间,西部地区妇女中,超过1/3不做产前检查。西部地区以农村、少数民族、文化程度低的妇女产前保健最为薄弱。西部地区农村产前检查率远低于全国农村的平均水平。④少数民族育龄妇女的产前检查率明显低于汉族育龄妇女;随着文化程度和经济收入的增加育龄妇女对产前保健服务的利用增加。文盲妇女、经济收入低的妇女产前检查率极低。结论:我国产前保健服务状况发展极不平衡,西部地区农村的产前保健服务急待提高。需加强对西部地区和弱势育龄妇女产前保健服务的支持力度。对西部农村妇女,特别是少数民族,文化程度低、经济条件差的妇女应实施财政补贴政策。     

Prevention of chromosomal anomalies

Extensive newborn chromosome surveys have revealed a frequency of about 5 to 8 abnormalities per 1000 cases studied. These figures do not, however, reflect the true frequency of chromosomal anomalies, as a striking decrease in the frequency occurs from the very early days of the pregnancy through the neonatal period. Almost all the chromosomal anomalies impair intellectual development. This explains why most western populations agree with the principle of prenatal detection. Prenatal diagnosis of chromosomal anomalies started in the early seventies, with amniocentesis. Ten years later, choriocentesis was made available. Fetal karyotyping is an accurate method with a very low rate of false positive and false negative results. At the beginning of the nineties, what is the impact of these methods on the prevention of chromosomal anomalies? In south-eastern France, between 1984 and 1988, 22% of trisomies 21 were terminated after prenatal diagnosis. The rate of amniocentesis performed is 5% among women under 35 years of age, 24% among women between 35 and 37 years, 35% between 38 and 39 years and 56% in women over 40 years of age. Obviously, prevention is only partly due to systematic amniocentesis among women over 37. Around 20% of trisomies 21 are diagnosed after detection of growth retardation or a malformation upon sonographic examination, leading to an amniocentesis or fetal blood sampling. Why do only 55–60% of women over 37 years of age benefit from an amniocentesis, although this technique has been available for nearly 15 years and is performed free of charge for eligible women? Physician's attitudes and knowledge have been shown to be the most important factors for the adoption of this technology. The sociocultural status of women with access to amniocentesis is significantly higher than that of the general population; only systematic screening would be effective in reducing sociocultural inequities in access to prenatal diagnosis. But such a policy may conflict with the respect of women's individual autonomy. What does the future hold? Several screening tests are being developed which will define new risk groups. Maternal serum AFP, hCG and unconjugated estriol levels, combined with matemal age, can be very useful in determining a combined risk. This should increase the current detection rate to 60% with no additional amniocentesis performed. New cytogenetic techniques will soon be available. That will allow for quicker results, at a lower cost and at a very early stage of pregnancy. Chromosomal anomalies are likely to be the first birth defects to be almost completely prenatally screened among medically monitored pregnancies in the coming years.     

Alpha-foetoprotein assessment in amniotic fluid for the detection of neural tube defects: limited added value beyond week 20 ultrasound; retrospective study

OBJECTIVE: To evaluate the diagnostic additional value of routine alpha-foetoprotein (AFP) assessment in amniotic fluid for the detection of neural tube defects (NTDs), compared with week 20 ultrasonographic examination. DESIGN: Retrospective. METHOD: We retrospectively determined AFP concentrations in amniotic fluid obtained from 7981 women who had undergone amniocentesis for karyotyping and AFP assessment. An AFP concentration greater than 2.5 times the median was considered abnormal. Women were categorised into 4 groups based on the indication for invasive prenatal diagnostic assessment: advanced maternal age (group I; n = 6179), increased risk of foetal NTDs (group II; n = 258), ultrasonographically confirmed foetal NTDs (group III; n = 55) or other indications (group IV; n = 1489). RESULTS: In group I, 18 of 6179 samples had increased AFP levels (0.3%), 2 of which were associated with NTDs. In group II, 2 of 258 samples had increased AFP levels (0.8%); both were associated with NTDs. Increased AFP levels were found in 44 of 55 samples from group III (80%), and 223 of 1489 samples from group IV (15.0%). CONCLUSION: Routine assessment of AFP in amniotic fluid based on advanced maternal age provides little additional value in the detection of NTDs beyond that of week 20 ultrasound.     

Social and ethnic inequalities in the offer and uptake of prenatal screening and diagnosis in the UK: a systematic review

OBJECTIVE: To review studies addressing the question of whether there are social inequalities in either the offer or the uptake of prenatal testing in the UK. METHOD: Systematic review of studies assessing the offer or uptake of prenatal screening or diagnosis according to social class or ethnic origin. Electronic databases were searched using a strategy developed for a review of inequalities in access to maternity care supplemented with terms specific to prenatal testing. Further papers were identified from reference lists, citation searches and key organizations. RESULTS: From over 600 identified papers, 41 were potentially relevant. Twenty met the inclusion criteria. The studies included covered screening and/or diagnosis for Down's syndrome, neural tube defects, haemoglobin disorders and HIV. Many studies were limited by small numbers or poor reporting of data and analysis. Six studies reported data on prenatal testing according to women's social class or educational level. None found any significant social inequalities in testing. Some studies suggested that women of South Asian origin might be up to 70% less likely to receive prenatal testing for haemoglobin disorders and Down's syndrome than White women. A small number of studies suggested that South Asian women might be less likely to be offered testing. CONCLUSIONS: This review provides some evidence of ethnic inequalities in access to prenatal testing. Further research is required to improve our understanding of why testing may not be offered, the reasons for failure to take up testing when offered, and to identify whether there are other social inequalities in access to prenatal testing.     

Ensuring a public health impact of programs to reduce HIV transmission from mothers to infants: the place of voluntary counseling and testing

Since 1999, many African governments have launched programs to offer short-course antiretroviral drug regimens to reduce mother-to child transmission of HIV. HIV testing in prenatal care is the gateway to these antiretroviral regimens. Pilot projects in Africa show an uptake of antiretroviral drugs in 8% to 50% of pregnant women presumed to be HIV infected; often, a minority of eligible women in care received these regimens. Use of lay counselors and rapid onsite HIV testing may alleviate health service barriers. Community education to promote voluntary counseling and testing, which involves men, is the long-term solution. In the short term, possibilities to enhance delivery of an effective intervention include group pretest counseling, universal offer of testing with women having the right to "opt out," universal treatment (mass treatment for those whose HIV status is not determined by voluntary counseling and testing), universal testing with women having the right to "opt out" of learning their test results, and mass treatment for all without testing.     

Prenatal care, childhood obesity, and ethnic health disparities: analyses from a unique population database

This paper explores the association between prenatal care and childhood obesity across racial/ethnic groups, with special focus on Asians, Native Hawaiian and other Pacific Islanders (NHOPI), and non-Hispanic Whites. Data were drawn from a statewide population-based data source that linked vital and administrative records for a large cohort of children (n=227,032). Multivariate logistic regression was used to estimate odds of overweight and obesity among children whose mothers received first trimester prenatal care versus those who did not. Compared with White and Asian women, NHOPI women had later initiation of prenatal care. However, NHOPI women who initiated early prenatal care had children with significantly lower risks of obesity and overweight than their counterparts who delayed such care. Timely prenatal care may be associated, with lower childhood obesity through focused monitoring and counseling on pregnancy-related weight gain as well as through reducing other potentially deleterious prenatal behaviors for this high-risk and underserved population.     

不同羊膜腔穿刺适应证患者的染色体异常核型检出情况分析

目的分析不同羊膜腔穿刺适应证患者的染色体异常核型检出率及其遗传咨询方法。方法选择2009年1月至2013年12月于内蒙古医科大学附属医院行羊膜腔穿刺胎儿染色体检查的523例患者中羊水细胞培养成功的520例患者为研究对象。本研究遵循的程序符合本研究遵循的程序符合内蒙古医科大学附属医院人体试验委员会所制定的伦理学标准,得到该委员会批准,并征得受试对象本人的知情同意,与之签署临床研究知情同意书。分析不同羊膜腔穿刺适应证患者的染色体异常核型检出率。结果 520例羊水细胞培养成功的患者中,异常核型检出率为4.42%（23/520）。高龄妊娠患者染色体异常核型发生率为1.45%（3/206）,中孕期母体血清筛查高危患者为3.15%（7/222）,胎儿超声结果异常患者为12.72%（7/55）,夫妇一方系染色体平衡结构异常患者为66.67%（2/3）,无创产前DNA检测示高危为80.00%（4/5）,有染色体异常儿生育史患者为0（0/29）。23例检出异常核型胎儿中,染色体非整倍体异常胎儿为19例（82.6%）,染色体结构异常为4例（17.4%）。结论目前羊膜腔穿刺染色体异常核型检出率较低。对胎儿进行超声检查和无创产前DNA检测有助于提高羊膜腔穿刺染色体异常核型检出率。     

Ethnicity,education attainment,media exposure,and prenatal care in Vietnam

Objective. Prenatal care coverage in Vietnam has been improving, but ethnic minority women still lag behind in receiving adequate level and type of care. This paper examines ethnic disparities in prenatal care utilization by comparing two groups of ethnic minority and majority women.

Design. We examine the roots of ethnic disparity in prenatal care utilization, focusing on how education and media exposure change health behaviours and lessen disparities. We rely on the 2002 Vietnam Demographic and Health Survey to draw our sample, predictors and the three dimensions of prenatal care, including timing of onset, frequency of visits, and type of provider.

Results. Results from multinomial-, and binary-logistic regression provide evidence that ethnic minority women are less likely to obtain frequent prenatal care and seek care from professional providers than their majority counterparts. However, we find that ethnic minority women are more likely to obtain early care compared to ethnic majority women. Results for predicted probabilities suggest that education and media exposure positively influenced prenatal care behaviours with higher level of education and media exposure associating with accelerated probability of meeting prenatal care requirements.

Conclusion. Our results imply the needs for expansion of media access and schools as well as positive health messages being broadcasted in culturally competent ways.