Benefits of newborn screening

This is an automatically translated article.

This article is professionally consulted by Master, Resident Doctor Dang Thi Ngoan - Pediatrician - Neonatologist - Department of Pediatrics - Neonatology - Vinmec Ha Long International Hospital. Uncle used to be a lecturer in the Department of Pediatrics - Hai Phong University of Medicine and Pharmacy, and was granted a certificate in Pediatrics at home and abroad such as: Westmead Hospital, Australia; Hai Phong Medical University and has strengths in the field of diagnosis and treatment of diseases in infants and young children, pediatric resuscitation - emergency.
Newborn screening aims to proactively detect, intervene and treat diseases, metabolic and genetic disorders early in the fetal and neonatal period. Thereby, the benefits of newborn screening are to help children born with normal development, reduce the number of people with disabilities and intellectual disabilities.

1. What is newborn screening?

Newborn screening is a screening test right after birth within 48 hours to detect babies most likely to have the disease so that it can be detected and treated at the earliest. Babies whose newborn screening test results show that they have the disease will be carefully examined again.
Measures for newborn screening:
Heel blood collection Children will be taken 2 drops of blood from the heel on absorbent paper, let it dry, then the blood sample will be sent to the testing center. Results will be available in 24-72 hours. For full-term and low-birth-weight babies, blood will be taken within 48 hours of birth, for premature and low-birth-weight babies, blood will be taken before the 20th day. Heel blood test helps detect some rare diseases. However, it poses a great danger to the health and development of children so that timely treatment can be provided to minimize complications that cause disability or death.
Measurement of hearing, tympanic and stapes According to research in Vietnam and around the world, for every 1,000 babies born, there are 3-4 children with congenital hearing loss. This rate increases 4-5 times in high-risk children such as premature babies with very low birth weight, mothers with infectious diseases in the first 3 months of pregnancy, meningitis, family members with hearing loss. congenital or progressive defects... However, when a child is found to have a late hearing loss (from 2-3 years of age), he or she can suffer permanent, irreparable defects in speech. , language and cognitive development compared with normal children. But with early detection and timely intervention, these children are completely capable of recovering.

2. Benefits of newborn screening

For infants and families: newborn screening helps to detect and intervene early on diseases, diseases and metabolic and genetic disorders right in the fetal and neonatal period, in order to reduce the number of children. born with certain disabilities, congenital diseases, hearing impairments, metabolic diseases, intellectual disabilities in the community, prevent severe physical and intellectual consequences, improve population quality, quality amount of human resources.
For the community: newborn screening tests help save treatment and care costs because children with congenital diseases can no longer go to school and can't work to generate income family and society into adulthood. On the other hand, the benefits of newborn screening also help save costs in intensive care due to the consequences of physical and mental retardation. Moreover, this is also a way to reduce anxiety and burden for families with sick children through consultation, treatment, early detection of diseases and prevention of complications, and at the same time, ensure that babies born on the same day. the healthier.

3. Diseases that can be detected by newborn screening

G6PD (G6PD) deficiency : This is a sex-linked genetic disease. Men are twice as likely to get the disease as women. In Vietnam, for every 1,000 babies born, there are 10-20 children with G6PD deficiency disease.
The disease causes neonatal jaundice, yellow eyes, if prolonged, can increase the risk of death from brain disease or cause dangerous complications such as mental retardation, motor and neurological retardation. .. Caused by G6PD deficiency patients have unstable red blood cells and are easily damaged by oxidizing agents that the body can absorb from food, drugs...
Congenital hypothyroidism (CH): When suffering from this disease, the child's thyroid gland cannot produce on its own or produces very little thyroid hormone, if not treated in time, the child will have irreversible growth retardation, both physical and intellectual due to the hormone. The thyroid gland is needed for the development of the brain and body throughout life. In addition, the disease can also cause some problems such as children at high risk of infections, especially respiratory infections and bone deformities, susceptible to atherosclerosis, coronary heart disease due to always high cholesterol in the blood. blood.
The most recognizable characteristics of children with congenital hypothyroidism are jaundice, special face shape (thick tongue, large eyes, puffy cheeks, flat nose), umbilical hernia, and short, disproportionate and slow body. growth in weight...
Congenital adrenal hyperplasia (CAH) : This is a sex-linked genetic disease, common in girls, that occurs when the adrenal gland's hormone production function is impaired. disorders. For children with this pathology, often early puberty, girls will have genitals that gradually develop masculinity because the adrenal glands produce androgens. In young girls with the disease, the enlarged clitoris can look like a small penis. Along with that, the clitoral labia may be slightly closed, blocking the entrance to the vagina. It is difficult to detect the disease in a fetus because it is not possible to distinguish between male genitalia and female genitalia on ultrasound.
Therefore, it is necessary to perform newborn screening by taking blood from the heel of the baby within 24-72 hours after birth to check if the baby has the disease before symptoms manifest.

Thalassemia: This is an inherited hemolytic anemia that affects both men and women. The disease has two main manifestations: anemia and iron overload in the body. About 1 - 4 weeks after birth, babies often have the following symptoms: vomiting, prolonged diarrhea, slow weight gain. Right from the time of birth, the child has abnormally enlarged external genitalia. It is a difficult disease to treat, but it is easy to prevent through newborn screening.
Congenital hearing loss: Congenital hearing loss occurs due to damage to the hearing organs right from the fetal period, so soon after birth, the child has hearing loss. Early detection and intervention of congenital hearing loss will help children to be able to hear and speak, create conditions for children to develop thinking and integrate into the community.
Some other diseases Some other diseases such as phenylalanine amino acid metabolism disorder, galactose metabolism disorder... can also be detected by newborn screening.
The implementation of newborn screening is not only a personal matter of any family but a long-term step for the population in particular and the whole society in general for the purpose of improving and improving the quality of the breed and the quality of life. the prosperity of society towards a future that minimizes disability caused by congenital diseases.
As a key area of ​​Vinmec Health system, Pediatrics Department always brings satisfaction to customers and is highly appreciated by industry experts with:
Gathering a team of top doctors and nurses in Pediatrics : consists of leading experts with high professional qualifications (professors, associate professors, doctorates, masters), experienced, worked at major hospitals such as Bach Mai, 108.. Doctors All doctors are well-trained, professional, conscientious, knowledgeable about young psychology. Besides domestic pediatricians, the Department of Pediatrics also has the participation of foreign experts (Japan, Singapore, Australia, USA) who are always pioneers in applying the latest and most effective treatment regimens. . Comprehensive services: In the field of Pediatrics, Vinmec provides a series of continuous medical examination and treatment services from Newborn to Pediatric and Vaccine,... according to international standards to help parents take care of their baby's health from birth to childhood. from birth to adulthood Specialized techniques: Vinmec has successfully deployed many specialized techniques to make the treatment of difficult diseases in Pediatrics more effective: neurosurgery - skull surgery, stem cell transplantation. blood in cancer treatment. Professional care: In addition to understanding children's psychology, Vinmec also pays special attention to the children's play space, helping them to have fun and get used to the hospital's environment, cooperate in treatment, improve the efficiency of medical treatment.

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