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Antenatal diagnosis and management of life-limiting conditions
Andrew C G Breeze1, Christoph C Lees
1Kingston Hospital NHS Trust, Galsworthy Road, Kingston-upon-Thames KT2 7QB, UK.
Insights
Many fetal abnormalities are treatable, but a few are life-limiting. This review discusses antenatal diagnosis and perinatal management for severe fetal conditions like skeletal dysplasias and trisomies.
Area of Science:
- Perinatology
- Fetal Medicine
- Medical Genetics
Background:
- Structural fetal abnormalities are common, but most do not significantly affect long-term outcomes or are treatable postnatally.
- A small subset of fetal anomalies are potentially lethal or life-limiting, requiring specialized management.
- Examples include severe skeletal dysplasias, certain urinary tract anomalies leading to anhydramnios and pulmonary hypoplasia, central nervous system disorders, and trisomies 13 and 18.
Purpose of the Study:
- To review the principles and emerging considerations for antenatal diagnosis.
- To discuss perinatal management strategies for life-limiting fetal conditions.
- To provide an overview of key conditions requiring specialized fetal care.
Main Methods:
- Literature review of antenatal diagnosis and perinatal management of severe fetal abnormalities.
- Discussion of current and emerging diagnostic techniques.
- Analysis of management principles for lethal and life-limiting fetal conditions.
Main Results:
- Antenatal diagnosis of severe fetal conditions relies on advanced imaging and genetic testing.
- Perinatal management requires a multidisciplinary approach involving fetal medicine specialists, neonatologists, and geneticists.
- Care focuses on optimizing outcomes for the infant and providing support for the family.
Conclusions:
- Early and accurate antenatal diagnosis is crucial for planning perinatal care.
- Management of life-limiting fetal conditions necessitates a comprehensive, family-centered approach.
- Advances in fetal medicine offer new possibilities for diagnosis and management, improving care for affected infants and families.
Abstract:
Whereas structural fetal abnormalities are relatively frequent occurrences, many of these do not impact measurably on future life and/or are amenable to postnatal therapy. A small minority are considered to be potentially lethal or life-limiting. Examples include specific skeletal dysplasias, urinary tract abnormalities - typically those which lead to anhydramnios and pulmonary hypoplasia, some disorders of the central nervous system and trisomies 13 and 18. Without seeking to compile an exhaustive list of such conditions, we discuss the principles and new considerations in relation to antenatal diagnosis and perinatal management of such disorders.
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