Newborn screening mothers need to know (Part 2)

This is an automatically translated article.

The article was written by Assoc. Prof. TS.BS Nguyen Viet Nhan - Genetic consultant, Department of Fetal Medicine, Vinmec Times City International General Hospital.

Endocrine or genetic diseases are often not evident in newborns, making it difficult for families to recognize that the baby is having problems. intellectual capacity, slow movement, morphological defects in children. Currently, Vinmec Times City General Hospital has implemented effective newborn screening methods to help detect a number of neonatal diseases early, thereby providing timely interventions and treatment.

1. G6PD . enzyme deficiency

G6PD (Glucose-6-phosphatase dehydrogenase) deficiency is a very common genetic defect in humans caused by a gene mutation located on the X chromosome.
G6PD enzyme present in red blood cells helps to protect red blood cells from being destroyed by oxidants. People with this enzyme deficiency when eating certain foods or taking certain medicines will break down red blood cells causing anemia and other complications, so all newborns need to be screened. and early diagnosis of G6PD deficiency.
If detected early, children with G6PD deficiency will be monitored for neonatal jaundice, parents will be advised to help children avoid using foods, drugs or exposure to substances that can serious consequences for children.

3. Congenital hypothyroidism

Congenital hypothyroidism is mainly caused by abnormalities in the development of the thyroid gland in the fetal period and is usually not inherited. In children with this condition, the thyroid gland will not make enough of the hormone thyroxine needed for the child's growth. If not detected early and treated, children will suffer from mental retardation, motor development, and learning disabilities.

3. Congenital adrenal hyperplasia

Congenital adrenal hyperplasia is an inherited disease caused by an autosomal recessive gene mutation. The disease causes the adrenal gland (this gland located above the kidney) not to produce enough of its hormones, so it has to increase in size to compensate, so it is called hyperplasia.
In boys in the neonatal period, the disease can cause severe salt loss, dehydration, and death. The disease will cause the genitals and other male sexual characteristics to develop abnormally. In girls, the disease can cause virilization of the genitals from the fetal stage.

4. Diseases caused by congenital metabolic disorders

Food after being eaten will be digested, absorbed and metabolized in cells to serve the body's vital activities. This metabolic activity is carried out through many reactions catalyzed by enzymes or enzymes.
Each enzyme is usually encoded by a gene, if this gene is mutated, it will make the enzyme it encodes inactive, causing a stagnation of an entire metabolism that will lead to metabolic disease or disorder. congenital metabolic disorder.
Depending on the metabolic processes affected, people are divided into different groups of metabolic diseases. Although individual types of metabolic disease are rare, there are many different metabolic processes in the body, so metabolic disease in general is quite common, on average, the likelihood of a child having a metabolic disease will be about from 1/3000 to 1/4000.
Children with metabolic disease are completely normal at birth, only from the time the child is breastfed (breast milk or bottle milk) do metabolic disorders begin to appear and progress slowly. If not diagnosed and treated early, the disease can lead to serious nerve damage, heart, liver, and kidney failure. Many cases of metabolic disease present with neonatal sepsis, so management is delayed due to misdiagnosis.
Currently with 1 drop of dried blood on the heel of a child can screen for from 30 to over 50 different metabolic diseases. Although some metabolic diseases are still incurable, diagnosing genetic mutations will help geneticists advise families on ways to prevent future pregnancies.

5. How to detect children's diseases early?

In order to be able to detect children with G6PD deficiency, hypothyroidism, adrenal hyperplasia and congenital metabolic diseases, 24 to 72 hours after birth, medical staff will use a needle to prick the child's heel to collect about 3 to 5 drops of blood on a special blotting paper for testing.
The blood draw may make the baby cry and upset a bit but it has absolutely no effect on the baby's health. Screening results will be available 3 to 7 days after sampling. In case the screening results show that the child is at high risk for 1 of the above diseases (screening positive), the family will be invited to bring the child back to the hospital for confirmation of diagnosis, intervention and treatment. if the child is really sick.
Customers can directly go to Vinmec Health system nationwide to visit or contact the hotline here for support.
MORE:
Newborn screening mothers need to understand in part 1 Benefits of newborn screening Prenatal and newborn screening: What you need to know