Newborn disease screening refers to group screening of some serious inborn errors of metabolism and endocrinology through blood tests, so that children can be diagnosed and treated early to avoid damage to the brain, liver, kidneys, etc. Growth, intellectual development impairment, and even death.
Neonatal disease screening is a systematic project integrating organizational management, experimental technology, clinical diagnosis and treatment, and publicity and education. It should follow the principles of autonomy, usefulness, harmlessness and fairness.
Newborn disease screening content
Free screening
1. Congenital hypothyroidism (CH)
2. Phenylketonuria (PKU) High benzene Alaninemia (HPA)
3. Congenital adrenal hyperplasia ( CAH)
4. Glucose-6 phosphatase deficiency (G-6PD deficiency)
Self-funded screening
Tandem mass spectrometry screening
Screening objects
All live births that are more than 48 hours old (lactating at least 6 to 8 times) Son.
Screening method
The blood collection site and blood collection method are usually the inside or outside of the baby's heel. The method is to massage or heat the baby's heel to make it engorged. After alcohol disinfection, use a disposable blood collection needle to puncture, about 2 mm deep, the deepest Squeeze out the first drop of blood after discarding no more than 3 mm, and drop the blood on a specific filter paper to allow it to fully penetrate to the opposite side of the filter paper.
Result query
You can check the results at home one month after blood collection. For babies with problems, staff will contact the guardian in time. Parents, please ensure that the phone number submitted does not change for 3 months.
1. Follow the public account
2. Report query
1
What is newborn disease screening?
Neonatal disease screening refers to the implementation of special examinations for congenital and hereditary diseases that seriously endanger the health of newborns during the newborn period, and provides maternal and infant health care technology for early diagnosis and treatment.
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screening objects?
All newborns have the right to be screened for diseases.
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Why should we screen?
Through newborn disease screening, it helps to early detect and treat patients with congenital genetic metabolic diseases, reduce or avoid serious consequences, and improve population quality and quality of life.
4
What diseases are screened for?
National newborn disease screening diseases include phenylketonuria (PKU) and congenital hypothyroidism (CH); in addition, more and more regions have carried out screening for congenital adrenal hyperplasia (CAH) and tandem mass spectrometry screening for inherited metabolic diseases.
htmlScreening of 336 genetic metabolic diseases (see the table below for details of the diseases).
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When is screening done?
Blood is collected from the heel of the baby 48 hours after birth, within 7 days, and after adequate breastfeeding.Where is
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screened?
A newborn disease screening center designated by the health administrative department.
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Interpretation of screening results
The vast majority of babies can get a "screening negative" result, which means that your baby's risk of disease is very low. Babies who "screen positive" will be recalled by the hospital for review, so it is very important to fill in the correct address and contact information when collecting blood.
If you receive a recall notice, please be sure to cooperate and go to the hospital for review as soon as possible; data shows that most of the babies recalled for review are healthy. If the re-examination result is still positive, please follow the doctor's advice for further testing and confirm the diagnosis.
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The importance of screening
If there is no newborn disease screening, the baby will have different degrees of clinical symptoms during the growth and development process, and the body is likely to have suffered irreversible damage from this time.
Newborn disease screening helps to detect sick babies at the first time and provide timely food control and treatment. As long as regular treatment is adhered to, the vast majority of children will grow, develop, learn, and work like normal children.
Newborn screening, the first step in your baby’s healthy life!
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Common genetic diseases
Phenylketonuria (PKU)
Phenylketonuria is a metabolic disease genetic disease, due to The patient lacks phenylalanine hydroxylase , resulting in the inability to metabolize benzene normally. Alanine , toxic metabolites will accumulate in the body and damage brain development, leading to low mental development in children. The incidence rate of
in China is about 1:14,000.
Symptoms: The child has no abnormal appearance when he is born. After 3 months of birth, he begins to have symptoms such as irritability, unpleasant odor in urine, white hair and skin, and even epilepsy; he will develop severe intellectual disability in the future.
Treatment Dietary control is the main treatment for this disease. Early detection and early treatment will not affect the patient's intelligence.
Congenital hypothyroidism (CH)
Congenital hypothyroidism is a disease caused by insufficient synthesis of thyroid hormone due to congenital developmental disorders of the thyroid gland. The disease can cause growth retardation and mental retardation in children, and is commonly known as " cretinism ".
The incidence rate in China is about 1:2,000, and the incidence rate in some remote areas is significantly higher than the average.
Symptoms: Patients with congenital hypothyroidism are often asymptomatic in the neonatal period. Within 2-6 weeks after birth, untreated children may develop jaundice and edema, which will gradually develop into lethargy, difficulty eating, constipation and abdominal distension. . These symptoms are not easy to attract the attention of parents and even doctors. Delayed diagnosis and treatment can lead to lifelong intellectual disability.
The main treatment method for treating this disease is oral levothyroxine. As long as the children insist on taking the medicine, the children can grow and develop normally.
Congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia is a group of autosomal recessive genetic diseases caused by abnormal adrenaline secretion caused by obstruction of the steroid hormone synthesis pathway. The incidence rate of
in China is about 1:13,000.
Clinical manifestations There are three clinical manifestations: salt-wasting type, simple virilization and mild type.Among them, typical salt-losing children have salt-losing symptoms in the neonatal period, and may suffer from growth failure, unknown vomiting, and refusal to eat; severe patients may experience shock or even death. The simple virilization type manifests as masculinization of external genitalia in female infants and precocious puberty in males without testicular enlargement.
drug treatment: long-term treatment is mainly adrenocortical hormone replacement therapy. Surgical treatment: For patients with severe abnormalities of gender development, surgical correction can be performed.
Tandem mass spectrometry screening for inherited metabolic diseases
In recent years, with the development of tandem mass spectrometry (MS/MS) technology, its sensitivity and signal-to-noise ratio have been significantly improved, and a sample can be counted within 2 minutes. Detection of ten small molecule substances. MS/MS technology began to be used to screen newborns for genetic metabolic diseases in the early 1990s. It simultaneously detects the levels of multiple amino acids , free carnitine, and acylcarnitine to screen amino acids, organic acids, and fatty acid oxidative metabolism. It has realized the transformation from "one experiment detects one disease" to "one experiment detects multiple diseases". The overall incidence rate of
in China is about 1:12,000.
Clinical symptomsThe clinical manifestations are non-specific and diverse.
The main treatment for amino acid metabolic diseases is diet control; for organic acid metabolic diseases, diet control plus medication is often the main treatment; for fatty acid oxidation metabolic diseases, the main treatment is to change eating habits, avoid fasting and take medication. treat. With early detection and early treatment, the intelligence of patients with these three major types of diseases will not be affected or the symptoms of the patients will be alleviated.
Content Comprehensive Basic Public Health Service Project Promotion Platform
Submissions from Obstetrics
Editor: Suzy
Photography: Cui Wen
Reviewer: Xue Xiaoxiao
Editor: Ding Ding
