Negotiating Responsibility: Case Studies of Reproductive Decision-Making and Prenatal Genetic Testing in Families Facing Huntington Disease

Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of prenatal testing on this process. This involves analyzing: how people present themselves as acting responsibly whether or not they utilize genetic testing; who they feel responsible to in their family and elsewhere; the impact that testing has on these relationships; and, how negotiating responsibility changes over time with repeated use of prenatal testing, changing risk status and maturational changes. Two key findings are: how decision-making is perceived can become as important as what is decided; and, how responsibility is negotiated depends on which of these relationships are prioritized. Implications of the findings for clinical practice are noted and suggestions made for further applications of the model.     

Women's knowledge of prenatal ultrasound and informed choice

This study evaluated women's understanding of prenatal ultrasound in terms of meeting the requirements for informed choice. A cross-sectional survey was conducted to evaluate (1) how information is provided, (2) women's perceived value of the information received and, (3) their understanding of ultrasound in relation to the principles of informed choice. Women (n = 113) completed a questionnaire prior to their 18-week ultrasound. Fifty-five percent stated they received no information from their care provider. Only 31.9% considered health care providers as a very helpful source of information. Yet, 69.0% stated their care provider gave them information that facilitated their understanding. Gaps were identified in women's understanding of ultrasound. Specifically, 46.0% did not view ultrasound as a screen for anomalies; some were uncertain about the safety (18.6%), diagnostic capabilities (26.5%), and limitations of testing (37.2%). These results suggest that women's understanding of ultrasound does not meet the requirements of informed choice.     

Nausea During Pregnancy: Relation to Early Childhood Temperament and Behavior Problems at Twelve Years

Associations between maternal nausea during pregnancy and child behavioral outcomes were investigated in a large birth cohort. Generally, 2nd- and 3rd-trimester nausea were more predictive of child outcomes than 1st-trimester nausea. Children whose mothers reported nausea in middle or late pregnancy had lower sensory thresholds and higher levels of activity and emotional intensity in infancy and were reported to be lower in task persistence at age 5. At age 12, these children were viewed by teachers as more careless with their school work and as having more attentional and learning problems.     

Letter to a genetic counselor

The author describes her personal experience terminating a pregnancy after receiving an abnormal amniocentesis result: While still waiting for the results, she and her husband attempted to deny the importance of the pregnancy, an approach which they subsequently regretted. When they received the abnormal result, they found themselves able to make necessary decisions quickly, despite being in shock. It then took some time before they realized what a major loss they had actually suffered. The painful aftermath included accepting emotional responsibility for their decision to abort, as well as explaining that difficult decision to their older children. Thoughts of a possible subsequent pregnancy could not be faced at once. Over time, the author found the support of friends and colleagues, and even of a support group, to be invaluable. All in all, the entire experience was more painful than she would have predicted, and she hopes that this account will prove helpful both to genetic counselors and to other patients who receive abnormal results from prenatal diagnosis. A list of suggested readings is appended.Rose Green is a pseudonym.     

Seeing the baby: The impact of ultrasound technology

This paper reports results of a study of prenatal diagnosis patients who underwent ultrasound examinations and lost their pregnancies through miscarriage or elective terminations. The majority of the women felt that viewing the ultrasound image influenced their relationship to the fetus and their coping with the pregnancy loss. The women commented on the power of ultrasound to make their pregnancies more real as well as the painful yet sometimes beneficial consequences of seeing the fetus. Clinical implications are considered for health professionals who provide prenatal diagnostic services or counseling after pregnancy loss.     

Genetic counseling after abnormal prenatal diagnosis: Facilitating coping in families who continue their pregnancies

Families continuing a pregnancy after abnormal prenatal diagnosis face a unique crisis. Case examples are combined with clinical observations and a review of selected literature to define the elements of this crisis. Counseling strategies are discussed that may facilitate coping. Further research is needed to define the experience, as well as to identify effective coping strategies and successful counseling approaches.