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.     

Developmental Timing of Exposure to Elevated Levels of Phenylalanine Is Associated with ADHD Symptom Expression

This study addresses attention deficit hyperactivity disorder (ADHD), with a focus on how the timing of a known biological insult affects ADHD symptom expression. The sample consists of children exposed to elevated levels of phenylalanine, either postnatally as in Phenylketonuria (PKU; n = 46) or prenatally as in Maternal PKU (MPKU; n = 15). Non-hyperphenylalaninemic siblings of children with PKU (n = 18) serve as controls. Results indicate that elevated levels of phenylalanine are associated with ADHD symptoms. The manifestations of the symptom expression are dependent on exposure timing: prenatal exposure is associated with a higher likelihood of expressing hyperactive/impulsive symptoms and postnatal exposure is associated with a higher likelihood of expressing inattentive symptoms. This toxicity is dose-dependent and higher levels of phenylalanine appear more detrimental.     

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.     

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.     

Attitudes Toward Cystic Fibrosis Carrier and Prenatal Testing and Utilization of Carrier Testing Among Relatives of Individuals with Cystic Fibrosis

A questionnaire and an offer of free carrier testing was mailed to 173 relatives of individuals with CF. The questionnaire addressed their knowledge of clinical and genetic aspects of CF, as well as their attitudes toward carrier testing, prenatal diagnosis, and pregnancy termination for CF. Eighty-one individuals returned the questionnaire (47%) and 50 elected carrier testing (29%). Most respondents underestimated their carrier risk (60%), but overestimated their risk to have a child with CF (63%). Most (93%) indicated they would utilize carrier testing, and 70% would use prenatal testing; however, only 7% would consider terminating a pregnancy for CF. The intention to use prenatal testing was correlated with the perceived health of the proband and whether the respondent was planning to have (more) children. The acceptability of abortion was correlated with the respondent's perceived impact or burden of CF.     

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.     

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.     

Solidarity in Perinatal Medicine

In this paper it is argued that questions in perinatal medicine concerning treatment or non-treatment of severely handicapped children, after or before birth, cannot be answered solely by referring to the general aims and objectives of medical treatment and its specific deontology. Justifications of decisions about treatment and non-treatment need to be placed in a broader context of discussions about social justice and the social significance of medical practice as a whole.     

Associations between prenatal maternal mental health indices and mother–infant relationship quality 6 to 18 months’ postpartum: A systematic review

Maternal mental disorders can significantly impact on children's psychosocial and psychological development, incurring substantial ongoing economic and personal costs. A key mediating mechanism is mother–infant relationship quality (MIRQ). Research studies and perinatal mental health screening initiatives have predominantly focused on depressive symptoms and perinatal depression as predictors of MIRQ. While maternal depression is associated with suboptimal MIRQ, the findings have not been consistent. Personality characteristics are associated with parenting and proneness to depression, presenting a potential addition to prenatal mental health assessment. We conducted a systematic review of studies that have examined the link between prenatal depressive symptoms and/or personality characteristics with postnatal MIRQ. Our findings suggest that both maternal personality traits and depressive symptoms measured in early pregnancy are associated with postnatal MIRQ. A measure of personality characteristics may enhance prenatal mental health assessment, affording opportunities for targeted intervention commencing in pregnancy to improve MIRQ, parenting, maternal mental health outcomes, and infant psychosocial and psychological development, and thereby contributing to the reduction of human and economic cost burdens.     

Mother's prenatal and postpartum depression symptoms and infant's sleep problems at 6 months

Mother's prenatal and postpartum depression have been associated with infant's sleep problems. This study aimed to analyze (a) the effects of mother's prenatal and postpartum depression symptoms, including the effects of prenatal and postpartum anxiety and depression scores of the Edinburgh Postnatal Depression Scale (EPDS), on infant's sleep problems at 6 months, and (b) the interaction effect between mother's prenatal and postpartum depression symptoms and infant's sex on infant's sleep problems at 6 months. The sample was comprised of 164 mother–infant dyads whose mothers completed measures of depression at the third trimester of pregnancy, 2 weeks, 3 and 6 months postpartum and a measure of infant's sleep problems at 6 months (CSHQ-I). Mother's prenatal depression symptoms, specifically depression scores of the EPDS, predicted more infant's sleep anxiety and daytime sleepiness, while mother's depression symptoms at 2 weeks postpartum, specifically anxiety scores of the EPDS, predicted more bedtime resistance and CSHQ-I total scores at 6 months. Boys of mothers with more prenatal depression symptoms presented more sleep anxiety at 6 months. Both mother's prenatal and early postpartum depression symptoms have a negative effect on the emergence of infant's sleep problems. Additionally, boys seem more vulnerable to mother's prenatal depression symptoms.