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Published on: March 10, 2020
Birth defects: Risk factors and consequences
Camila Ive Ferreira Oliveira1, Agnes Cristina Fett-Conte2
1Department of Biology, Institute of Biosciences, Letters and Science (IBILCE), Paulista State University "Júlio de Mesquita Filho", São José do Rio Preto, SP, Brazil.
Insights
Birth defects (BDs), or congenital anomalies, are developmental alterations affecting about 3% of newborns. Understanding BDs is crucial for developing preventive strategies and improving genetic counseling.
Area of Science:
- Medical Science
- Genetics
- Developmental Biology
Background:
- Birth defects (BDs), also known as congenital anomalies, encompass structural and functional alterations during embryonic or fetal development.
- These conditions arise from genetic, environmental, or unknown causes, leading to physical and/or mental impairments in approximately 3% of newborns and contributing to pregnancy loss.
Purpose of the Study:
- To highlight the significance of birth defects (BDs) and congenital anomalies.
- To underscore the importance of understanding BDs for developing preventive and therapeutic strategies.
- To emphasize the role of knowledge in improving genetic counseling and public health initiatives.
Main Methods:
- This abstract summarizes existing knowledge on birth defects (BDs).
- It reviews known and potential risk factors contributing to congenital anomalies.
- It discusses the impact of BDs on infant mortality and the need for global information dissemination.
Main Results:
- Birth defects (BDs) are a complex and heterogeneous group of conditions, often with unknown etiology.
- Identified risk factors include advanced parental age, consanguinity, teratogenic agents (infections, drugs), and nutritional deficiencies like folic acid deficiency.
- BDs contribute significantly to infant mortality within the first year of life.
Conclusions:
- Increased global information on birth defects (BDs) is vital for implementing effective preventive measures.
- Knowledge of BDs is essential for advancing therapeutic interventions and providing adequate genetic counseling.
- Addressing BDs requires a comprehensive approach involving genetics, environmental factors, and public health awareness.
Abstract:
Birth defects (BDs) or congenital anomalies include all structural and functional alterations in embryonic or fetal development resulting from genetic, environmental or unknown causes, which result in physical and/or mental impairment. BDs occur in about 3% of newborn babies and in most cases of pregnancy loss. BDs are a very complex and heterogeneous group of single or multiple changes that, in most cases, are of unknown etiology. Among the risk factors are advanced maternal and paternal ages, parental consanguinity, teratogenic agents such as infectious agents and drugs, and poor nutrition, in particular folic acid deficiency. One of the consequences of these defects is the high death rate within the first year of life. Information on BDs is becoming increasingly more important throughout the world so that preventive measures can be taken. Knowledge of BDs enables the development of therapeutic and preventive strategies besides adequate genetic counseling.
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