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THE INCREASINGLY COMPLEX LANDSCAPE OF PRENATAL DIAGNOSIS AND CONSULTATION

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Advances in prenatal diagnosis, imaging, and prenatal maternal-fetal and postnatal neonatal care have led to dramatically expanded opportunities and challenges for fetal management and prenatal counseling. Over the recent decades, medical and surgical treatment options for newborns with even the most complex congenital anomalies have substantially increased. Concurrently, prenatal screening and diagnostic capabilities have expanded, leading to early diagnosis of fetal problems. Maternal and family anxiety have been shown to be significantly reduced after antenatal consultation by an experienced, specialized staff.1,2 Nevertheless, depending on the specific fetal finding, the physician and family may still be left with significant uncertainty regarding outcomes. If the pregnancy is continued, management strategies for the expectant mother and fetus range from those narrowly focused on maternal or fetal well-being to pursuing prenatal interventions, which may now be offered for some fetal indications. How these strategies are presented, and by whom, may strongly affect an expectant mother’s decisions.3,4 Furthermore, incomplete communication and collaboration among medical and surgical subspecialists in complex fetal cases may lead to incorrect information dissemination, confused message framing for the family, and a muddied picture of maternal, fetal, and neonatal risk-benefit and outcomes.5 Finally, learning that an eagerly awaited child may be born with congenital anomalies can be the most emotionally stressful and difficult period in the life of an expectant mother or father; for some, the experience constitutes a true psychiatric trauma.6 Therefore, experienced personnel in support services, including medical social services, palliative care, and biomedical ethics, must be available for expectant mothers and families in these circumstances.

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For all of these reasons, a multidisciplinary approach to complex fetal diagnosis, management, intervention, and family consultation is critical to presenting as balanced and accurate a view as possible and to protect the interests of both mother and fetus.7 The expertise and input of each member is crucial to inform plans for the pregnancy management, delivery mode and venue, and immediate postdelivery neonatal requirements. The team composition in a multidisciplinary fetal center may vary depending on the cases evaluated and managed at a particular institution. Genetics, maternal-fetal medicine, fetal and pediatric diagnostic imaging, and neonatology expertise, as well as a range of medical and surgical subspecialists and social service support, are important for building a strong foundation in complex fetal care and prenatal counseling.

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This chapter is too brief to provide a comprehensive presentation of all aspects of prenatal diagnosis and counseling. We therefore focus on fundamental principles of three areas: genetic prenatal screening and diagnosis; imaging of fetal anomalies; and the benefits of a prenatal consultation by a neonatologist in complex fetal cases.

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GENETIC PRENATAL SCREENING AND DIAGNOSIS

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Over the last quarter century, prenatal genetic screening and diagnosis have become mainstays of the medical care of women who are pregnant or contemplating pregnancy. Maternal serum ...

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