Newborn disease screening baby's first health defense

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Newborn disease screening baby's first health defense

2021-11-26 12:04:24 52 ℃

Director of newborns in Sichuan Maternal and Child Health Hospital. He graduated from the Chengdu Medical College, the Department of Clinical Medicine, Master of Business Administration, Southwest University of Finance and Economics, engaged in the testing and management of neonatal disease screening laboratories for more than 10 years, experienced, published relevant documents.

Baby's birth, let the quasi-father expectant mother, the baby grows up healthily, should be their biggest expectations. As a medical worker, I have to tell the joyful parents - some babies look very healthy, but in gestation, some congenital diseases may have been suffered from some congenital diseases.

According to relevant information, there are about 1 million children who have been lacking every year, 5.6% of birth defects, with an average of 1 defects every 30 seconds. The innate diseases and defects will seriously affect the baby's body and intellectual development. For parents and families with such children, whether they are in substances or spirit, they will have a serious impact.

The "Mother and Baby Health Care Law of the People's Republic of China" stipulates that in order to practice the basic national policy of improving the quality of population, the health education of newborns in the country, and actively advocate the screening of newborns, let the doctor and parents join hands together, guard The first step in the healthy growth of the baby.

Newborn disease screening refers to the congenital, hereditary disease, which is a congenital, hereditary disease, which has hapnected life, has caused children's disability, leading to children's disability, leading to children. 4 diseases: congenital thyroid dysfunction (CH), phenyltrunenuria (PKU), glucose-6-phosphate (G6PD) deficiency, congenital adrenal cortex (Cah).

Overall, through newborns screening, before the clinical manifestation of the baby did not have a disease, early discovery, early diagnosis, morning, early treatment, therapeutic effect will be better, the treatment cost will be lower, the baby will grow up healthier.

First, congenital thyroid dysfunction (CH): causing baby short, intellectual development.

Congenital thyroid dysfunction, commonly known as "congenital A low" or "congenital just", is one of the most common endocrine diseases in pediatrics. Due to the prehealth of hypoplasia or hormone synthesis disorders in the child, it has lack of thyroid hormone in the body, resulting in short development of children, short, and mental development.

There is no abnormal performance when the congenital is low, and the neonatal period often has a reasonable jaundice time, accompanied by less cry, less moving, feeding difficulties, abdominal swelling, constipation, etc., symptoms after 3 ~ 6 months Obviously, slow growth and intellectual development. The diagnosis is a child with low congenital A, and it is necessary to go to the professional institution to carry out regular treatment, take the medicine on time, do not easily stop the drug or change, and regulate the dose according to the doctor's advice.

Second, phenylketone urine (PKU): affects nervous system development, resulting in impaired intelligence.

Phenylketonuria, is a commonly stained heredible hereditary disease, and the child gets a pathogenic gene from parents or in the process of pregnancy, and there is a gene mutation in the pregnancy, causing hydroxylate of phenylalanine in children. The lack of enzyme or coenzyme, so that the child is phenylalanine obtained from the food to be transformed normally, causing metabolites to accumulate in vivo, severely affecting the development of nervous system, making brain development, resulting in low intelligence.

When the phenyclone urine is born, the appearance looks normally. After a few months, the intellectual development is behind, the hair is turned yellow, the skin is white, sweat, and the urine will have special murine ruthlessness, and finally developed " Dementia. Children diagnosed as phenyclone urine, need to choose a suitable treatment according to different disease types: Some children need special diet treatment, such as before the child's intellectual body is not developing completely, it is necessary to eat no phenylalanine. Milk powder, rice, face and other staple food; some children need drug treatment, even lifelong treatment.

The third is glucose-6-phosphate dehydrogenase (G6PD) deficiency: causing anemia, causes renal failure when severe.

Glucose-6-phosphate dehydrogenase deficiency, commonly known as "broad bean disease", is a hereditary gene mutation disease, my country's Guangdong, Guangxi, Yunnan, Sichuan and other places is high, the incidence is 4% ~ 15%, individual The region is as high as 40%, and the child is in a case where some incentives use drugs or edible broad beans, causing hemolytic anemia, and then clinical manifestations such as jaundice, hemurin urine, and severe acute renal failure or even death.

Broad bean patients, no special treatment, focusing on prevention, hospitals will send a glucose-6-phosphate dehydrogenase lacking card, Carneson has disabling and cautious drugs, such as In daily life, we should avoid eating broad beans and its products, avoiding daily necessities such as Camorphic Pills, and disabling acetamiline-free antipyretic, guiding children to avoid contact inducement, preventing disease.

The fourth is congenital adrenal skin hyperplasia (CAH): causes shortness, affecting psychological development.

Congenital adrenal skin hyperplasia is a group of common commonly stained recessive hereditary diseases. Due to the congenital lack of enzymes in adrenal hormone synthesis, the corticotonic hormone synthesis is completely or partially hindered, and adrenal cortical function can occur in clinical adrenal skin function. Degradation or female male, male pseudo-procurement, short body, developmental disorder, seriously affecting psychological development of children.

Children with congenital adrenal adrenal hyperplasia, depending on the type of disease, the degree of condition and the clinical manifestation, can be divided into simple male, dilute type, and atypical three, each type of symptomatic treatment according to clinical symptoms. 1. Which babies need to receive screening?

In principle, all newborns have the right to health care, and all newborns should receive screening.

2. The husband and wife are very healthy, the family has no relatives of genetic metabolic diseases, is the baby necessary to accept screening?

Is necessary. Although the parents seem healthy, the husband and wife may be the carrier of some pathogenic genes, or the mother is infected with viral infections during pregnancy, will increase the risk of the baby's affected medical paralysis.

3. Baby can eat it to eat can sleep, it seems normal, do you need to accept screening?

need. Baby with genetical metabolic diseases, often looks normal during birth, parents are difficult to find the baby in the age of 1, most of them from 2 to 3 years old, causing attention. Even if intervent treatment is started, its cognitive development level will remain behind in the same age.

In order to popularize the screening consciousness, the country has achieved a free screening of conventional "four diseases", so the parents remember that the baby is born, it is best to conduct newborns in the specified time.

4. How to screen it?

The screening process is: signing the informed consent of the awareness - Pumping blood - laboratory test - further examination - the diagnosis of disease - Treatment - Treatment - Regular follow-up.

5. What is the requirements for screening?

Newborne disease screening blood collection refers to the birth of 48 hours, within 7 days, fully breastfeeding more than 6 times, collecting children with blood to screen. For various reasons (premature infants, low body weight, etc.) There is no blood collection, the latest should not exceed 20 days after birth, earnestly perform early screen, early diagnosis, early treatment.

6. Screening results are positive, what should I do?

Screening results are negative, meaning that your baby is very low in newborns' genetic metabolic diseases. However, in the baby of the negative results, there is still a need for congenital diseases. Therefore, the baby needs to conduct a regular child health check.

There are very few parts of the baby, the screening results are positive, the parents don't have to panic, this shows that the possibility of the baby is relatively large, the staff will notify you to take a baby to the hospital through your reservation, to determine Does the baby are really sick. For those who are diagnosed, as long as they adhere to formal treatment, most children will grow their development and study like normal children.

Chen Shuolian

Editor Hew

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