PubMed · 11662980
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Doreen MacLean. 1975-03-27. Genetics.. https://pubmed.ncbi.nlm.nih.gov/11662980/
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A fetus with thanatophoric dysplasia type 2 (TD2) associated with cloverleaf skull and abnormal development of the corpus callosum is reported. This case represents the first prenatal direct visualization of a partial agenesis of the corpus callosum (ACC) using high-resolution ultrasonography and colour power Doppler, which was confirmed by post-mortem magnetic resonance imaging (MRI). The causal link between cloverleaf skull in TD and partial ACC is discussed.
UNLABELLED: BACKGROUND AND RESEARCH QUESTIONS: Fetal malformations can be detected at an early stage during pregnancy by today's ultrasound technology. This study examined how pregnant women appraise the application of ultrasound technology when a fetal malformation is suspected and how this appraisal is influenced by the confirmation or rejection of the diagnosis and by the subsequent course of the pregnancy. METHOD: In a prospective study 86 pregnant women for whom a fetal malformation had been suspected in an ultrasound examination were assessed at three points in time: before the ultrasound examination at a specialized centre, one to two weeks after the examination, and four weeks after giving birth or after the premature termination of pregnancy. Assessments were conducted by means of questionnaire and semi-structured interviews. RESULTS: 96.4 % of pregnant women advocated routine ultrasound examinations, irrespective of whether the suspected malformation was confirmed or not and irrespective of whether the pregnancy was continued or terminated prematurely. The women rated as being most important the medical goals of the examination (e. g. determination of the child's health status) and less so the subjective and personal goals (e. g. visualization of the child). Communicative competence in the context of the examination (e. g. quality of information) were judged less favourably than technical competence (e. g. performance of the exam). 94.2 % of the women believed that the cost of the ultrasound exam should be carried by health insurances. DISCUSSION: The findings of the study show the strong significance which prenatal ultrasound examinations have for pregnant women. Acceptance of ultrasound technology is high even when the examination results cause psychological stress. However, they also indicate that more attention should be given to aspects of communication and interaction in training and application of ultrasound technology.
OBJECTIVE: Today's ultrasound technology permits the detection of foetal malformations during pregnancy. This study examined pregnant women's psychological responses to a suspected fetal anomaly and the subsequent course of psychological well-being. METHOD: 86 pregnant women with a suspected fetal malformation were assessed by means of questionnaires three times: before an ultrasound examination at a specialized centre, one to two weeks after the examination, and four weeks after giving birth or after premature termination of the pregnancy. Anxiety (STAI), depression (HADS-D) and feelings towards the child were assessed. RESULTS: A suspected fetal malformation results in psychological stress with anxiety and depression levels significantly higher than in normal samples. Regardless of either confirmation or rejection of the diagnosis of a malformation, stress decreases significantly after the ultrasound examination at the specialized centre. Only women who decide to terminate the pregnancy prematurely show increasing levels of stress in this period. Four weeks after giving birth or termination of pregnancy the assessed psychological parameters of all participants fall within the normal range. CONCLUSIONS: A suspected fetal malformation results in immediate psychological stress but not in an enduring psychological disorder. Women facing immediate premature termination of pregnancy exhibited the highest stress levels. The psychosocial distress caused by the diagnosis of a fetal malformation should be taken into consideration in the psychosocial consultation and treatment of concerned women and their partners.