Can pre-pregnancy checkups reduce the risk of newborn genetic metabolic diseases?

Mar 03, 2025 Source: Cainiu Health
Dr. Zhang Lu
Introduction
Genetic counseling involves a professional assessment to understand family history and potential risk factors, providing information regarding disease risks and management strategies. Genetic testing utilizes modern molecular biology techniques to analyze specific genes in order to identify the presence of abnormalities or mutations. Serum amino acid analysis evaluates whether a fetus has congenital metabolic abnormalities by measuring the levels of various amino acids in the blood.

Pre-pregnancy examinations can usually reduce the risk of newborns having inherited metabolic disorders to some extent, but cannot completely prevent them.

Genetic counseling involves professional assessment to understand family history and potential risk factors, providing information regarding disease risks and management strategies. Genetic testing uses modern molecular biology techniques to analyze specific genes to determine whether abnormalities or mutations exist. Serum amino acid analysis evaluates whether a fetus has congenital metabolic abnormalities by measuring levels of various amino acids in the blood. This helps with the early detection of potential inherited metabolic disorders.

Pre-pregnancy examinations can reduce the risk of inherited metabolic disorders, but cannot guarantee that a newborn will be completely disease-free. Some genetic disorders may arise from new or low-frequency mutations that are undetected, or certain conditions cannot be accurately predicted with current genetic testing technologies. Additionally, environmental factors may also interact with genetic factors to influence the development of diseases.

Maintaining a healthy lifestyle and undergoing regular prenatal checkups can also help prevent diseases in newborns.