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Abstract
Advances in the prognosis of relevant syndromes and severe congenital malformations in infants during the last few decades have enabled the treatment and survival of an ever-increasing number of infants, whose prospects were previously judged futile by professional health care teams. This required detailed counselling for families, which frequently started before birth when a diagnosis was made using genetic testing or ultrasound. Predictions of the estimated prognosis, and frequently the more-or-less broad range of prospects, needed to include the chances of survival and data on acute and long-term morbidities. However, in the interest of a having an informed basis for parental decision-making with a professional interdisciplinary team, this process needs to acknowledge the rights of the parents for a comprehensive presentation of the expected quality of life of their child, the potential consequences for family life, and the couple’s own relationship. Besides expert advice, professional psychological and familial support is needed as a basis for a well-founded decision regarding the best treatment options for the child. It needs to be acknowledged by the professional team that the parental estimate of a “good outcome” or quality of life does not necessarily reflect the attitudes and recommendations of the professional team. Building a mutually trusting relationship is essential to avoid decision conflicts.
Highlights
Within the last few years, there has been substantial progress in in utero diagnostics.There is a wide spectrum of conditions, ranging from genetic syndromes with differing prognoses to malformations of varying severities, that are diagnosed prenatally
1-year survival is above 90%; for those born with congenital diaphragmatic hernia (CDH), survival is greater than 80%; and 1-year survival is only 15% for children with trisomy
Several studies assessing health-related quality of life (HRQoL) through parent questionnaires found the HRQoL of children, adolescents, and adults with Down syndrome (DS) to be lower than the HRQoL of people without
Summary
Within the last few years, there has been substantial progress in in utero diagnostics. There is a wide spectrum of conditions, ranging from genetic syndromes with differing prognoses to malformations of varying severities, that are diagnosed prenatally. This leaves parents and clinical team with the difficult decision of whether a pregnancy should be continued or terminated, and how the child would be treated postnatally. Case numbers are frequently low, the range of outcome wide, and estimated outcomes can depend, e.g., on additional malformations that are detected prenatally (or not) [1] This is in contrast to the frequent situation of premature births or classical diseases in childhood and adulthood, where large cohort registries or prospective observational studies guide treatment advances and lifetime perspectives
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