Genetic counseling for a family with two distinct anomalies: A case report of a neural tube defect and 5p- syndrome in a fetus

A couple presented for genetic counseling because of an elevated maternal serum alpha fetoprotein. Ultrasound examination revealed the presence of a neural tube defect. The couple declined an amniocentesis, but chose serial ultrasound evaluations instead. Ultrasounds eventually identified microcephaly, but the couple continued to decline amniocentesis. After the child's birth, the diagnosis of 5p- syndrome was made. The couple's decision not to have an amniocentesis allowed the family their right to autonomy; however, prenatal chromosome analysis would have provided this couple with a great deal more prognostic information. We discuss the conflict between a counselor's duty to respect a client's freedom vs. duty to care for a client's welfare. We address issues of nondirective counseling and the need for more studies looking at the decision-making process in prenatal diagnosis.     

也论朱子对《周易参同契》的整理

本文系对"朱子删改《参同契》文本说"的回应。该说法认为,朱子以宋代之后才出现的"先天方位"思想作为诠释《参同契》思想的基本方向,为弥合其注释与正文之间的矛盾,朱子有选择地删改了《参同契》的文本。本文对该说的几个主要论据做出回应:针对在朱子之前《参同契》文本不稳定的观点,本文指出,《参同契》文本在唐代已经基本稳定,而唐宋之际阐发《参同契》的文献大量出现,导致了《参同契》与之相混同的现象;针对朱子首次把《参同契》所本无的"先天方位"思想强加到对《参同契》的解释中的说法,本文指出,在朱子之前已有先例以"乾坤坎离"释《参同契》的"牝牡四卦"的说法,而《参同契》本身也是陈抟、邵雍"先天方位"说的思想来源之一;最后,本文还就"朱子删改《参同契》文本说"的具体条目做出了分析,指出其判断多有失误。     

Specific Life Events and Chronic Experiences Differentially Associated with Depression and Anxiety in Young Twins

Behavioral genetic analyses indicate that environmental influences associated with depression and anxiety are specific to each symptom type; however, this has not been tested specifically in children. Sixty-one (61) child twin pairs in which at least one twin had a very high anxiety or depression score, and 29 nonanxious, nondepressed pairs were interviewed about life events and chronic stressors in the previous 12 months. Loss events, schoolwork stressors, family relationship problems, and friendship problems were all significantly associated with depression but not anxiety. Threat events were significantly associated with anxiety but not depression. Loss events and schoolwork stressors appeared to act as shared environment influences in that they made twin pairs resemble one another. Threat events, friendship problems, and family relationship problems were individual specific and accounted for differences within the pairs. These results clarify the associations between life events and depressive and anxious symptoms in children and adolescents and reveal specific associations previously unidentified in this age range.     

Disability Rights,Prenatal Diagnosis and Eugenics: A Cross-Cultural View

This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged from interviews with Israeli representatives of organizations “of’’ and “for’’ people with genetic diseases and congenital disabilities can be described as a two-fold view of disability: support of genetic testing during pregnancy, and support of the disabled person after birth. This two-fold view is explained as a secular construction situated in legal, economic and cultural contexts. The paper concludes by considering the implications of the “two-fold view’’ of disability for the profession of genetic counseling. It is argued that awareness of the existence of conflicting views among clients—such as the view of the ‘disability critique’ as well as of the “two-fold view of disability’’—should strengthen the significance of nondirectiveness.     

Nondirectiveness and Its Lay Interpretations: The Effect of Counseling Style, Ethnicity and Culture on Attitudes Towards Genetic Counseling Among Jewish and Bedouin Respondents in Israel

To evaluate the effects of ethnicity, culture, and counseling style on the interpretation of nondirectiveness in genetic counseling, a questionnaire containing premarital and prenatal case vignettes in two versions (pessimistic/optimistic) was administered to 281 Jewish and 133 Bedouin respondents. The first study population was comprised of Jewish students enrolled in a university and a community college in the Negev (southern part of Israel). The second study population was comprised of Muslim-Bedouin college students from the same area. The majority of Jewish respondents interpreted the nondirective message as intended by counselors, while the majority of Bedouin respondents did not. Counseling style was found to have a statistically significant effect on the interpretation of the general role of counseling. Gender and susceptibility were not found to have a significant effect on interpretation. Group differences are analyzed through a cultural lens in which different interpretive norms can generate expectations for either nondirectiveness or directiveness.     

Reproductive Genetic Counseling to Asian-Pacific and Latin American Immigrants

Latin and Asian-Pacific immigrants are the fastest growing new-comer groups in the U.S. contributing to 85% of immigration totals. New immigrants experience multiple barriers to accessing genetic counseling resulting from cultural, linguistic, financial, and educational factors as well as having unique perceptions on health, illness, reproduction, and life as a whole. In addition, new immigrants lack familiarity with Western medical practices as well as genetic risk and available interventions. We provided perinatal genetic services to 2430 clients, mostly new immigrants of Latin and Asian-Pacific descent over a period of 6 years. Counseling aides sharing the clients' cultural backgrounds were employed. A study assessing the efficacy of cross-cultural education regarding advanced maternal age risk and amniocentesis was implemented and linked to a database containing demographic and clinical information. Practical observations relating to cultural beliefs in the two groups relevant to perinatal genetic counseling were made.     

Practice variability in prenatal genetic counseling

This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included/excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education/Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center/Departmental Policy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions.     

TEMPORAL AND CLIMATIC VARIABLES IN NATURALISTIC OBSERVATION1

Home-observation data on 5- to 7-yr-old boys collected over 2 yr were examined for systematic variations in rates of desirable and undesirable behaviors associated with several temporal and climatic variables. Significant effects associated with time of day, day of the week, precipitation, and temperature were found. No significant effects on the naturalistic observation data were found for environmental factors associated with lunar phase. It was noted that the correlational nature of the findings did not obviate the necessity for control of the influence of temporal and climatic variables. Several methodological strategies for such control were discussed.     

Prenatal discrimination of a male and a female voice uttering the same sentence

Using a habituation/dishabituation procedure, near-term foetuses (36-39 weeks gestational age) were tested in a low variability HR state, to examine whether they could discriminate between a male and a female voice repeatedly uttering the same short sentence. Prosody and loudness of the two voices were controlled. Once the foetal heart rate (HR) habituated to the first voice, the effect of a second voice was investigated in two experimental conditions: male/female voice and female/male voice. HR variations after the onset of the second voice were compared to those occurring in two control conditions in which the same voice was presented twice (male/female voice and female/female voice). Highly conservative statistical criteria taking each subject's pre-stimulus HR variability into account showed that most foetuses exposed to the voice change displayed decelerative cardiac changes, with no significant difference between the two conditions. These HR decelerations were found in the first seconds following the onset of the new voice, and reached their peak amplitude within 10 s in most subjects. These responses lasted more than 10 s for two-thirds of the experimental subjects. Mostly transient HR accelerations and only a few decelerative changes were recorded in the control subjects. Furthermore, mean amplitudes of these changes were significantly lower than the HR decelerations induced by the new voice in the experimental conditions, suggesting that the latter were not spontaneous HR modifications but rather cardiac responses to the voice change. It is argued that near-term foetuses may perceive a difference between voice characteristics of two speakers when they are highly contrasted for fundamental frequency and timbre.