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Suining Chuanshan District Maternal and Child Health Hospital
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Disease screening for neonatal diseases.
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Every family, every couple wants to have a healthy, lively and intelligent child. However, a considerable part due to congenital, genetic and environmental factors such as poor due to a variety of structural and functional abnormalities birth defects in newborn children abnormal born each year. Control of birth defects is not only a serious public health problem, but also a social problem affecting economic development and people's lives.

Neonatal screening is a healthcare institution in the neonatal population, with rapid, simple and sensitive testing methods, some congenital endanger the lives of children, endangering children's growth and development, leading to mental retardation of children, hereditary disease groups sieve inspection, so that the children in the clinical manifestation of the disease does not appear, but when you make an early diagnosis in vivo biochemistry, hormone levels have been significant changes, combined with effective treatment to avoid irreversible damage to vital organs occurs in children, to protect the normal children smart and physical development. It is one of tertiary prevention measures to reduce birth defects, it plays an important role in improving the quality of births.

Here's disease in our hospital neonatal disease screening centers currently screening as follows:

1. Congenital hypothyroidism (referred to as hypothyroidism)

A commonly known as cretinism low, due to congenital abnormalities thyroid, thyroid hormone synthesis metabolic disorder, no thyroid or caused. Children at birth is often a lack of specific manifestations of the disease, if not timely diagnosis and treatment, will result in serious physical development disorders and mental retardation.

CH actuator is a common cause of mental retardation, neonatal and atypical clinical manifestations, such as a physiological delay jaundice, feeding difficulties, children quiet, constipation, bloating and so are unlikely to cause to parents. Older children can occur nose flat, wide between the eyes, thick lips, tongue, and other special large extended extraoral often face.

Newborn screening is currently the early detection and diagnosis of congenital hypothyroidism is the only effective way to reduce disease. Treatment of children can avoid damage to the nervous system resulting in reduced IQ as soon as possible.

2. Phenylketonuria (referred to as PKU)

Amino acid metabolic disease phenylketonuria congenital, autosomal recessive inheritance. It is due to the reduction or loss of phenylalanine hydroxylase activity in children, which makes phenylalanine not be metabolized normally in the liver, thereby increasing the concentration of phenylalanine in the body and excreting a large amount of phenylpyruvate in the urine. It is called "phenylketonuria". If left untreated, the neurotoxic effects of excess phenylalanine and bypass metabolites can cause severe intellectual disability and secondary epilepsy in children.

When children with PKU are born, their appearance is not abnormal, and some children may have difficulty feeding, vomiting, and irritability. After 3-4 months of untreated children, their hair gradually turns yellow, their skin is white, their body and urine have a special rat odor, and they will develop mental retardation and even spasms in the future. If treatment is given immediately after birth, the occurrence of brain damage can be avoided. The later the treatment, the greater the degree of influence on the child's intelligence.

Low phenylalanine diet therapy is the main treatment for this disease. Treatment should be carried out under the guidance of doctors and parents, and regular follow-up should be performed not only to monitor the concentration of phenylalanine, but also to monitor the growth and development of children and mental development, and to pay attention to correct anemia or malnutrition caused by dietary treatment. At present, it is advocated to extend the treatment time as much as possible, and strict diet control is necessary at least before adulthood. For female patients who have reached the reproductive age, phenylalanine concentration should be strictly controlled from the first half of pregnancy until delivery, so as not to affect the development of the fetal nervous system.


The disease is a congenital disorder of glucose metabolism caused by lack of certain enzymes, which can cause liver damage, which is manifested as hepatomegaly, cirrhosis and ascites; can cause kidney damage, proteinuria, galactoseuria; can cause Eye lens damage and cataracts. Symptoms such as growth retardation and mental retardation can also occur. The disease should be treated as soon as possible after diagnosis. If galactose in food is strictly controlled early after birth, the child's physical and mental development may be normal, and clinical symptoms will improve. If treatment is started months after birth, cataracts and brain damage cannot be recovered.

4. Congenital adrenal hyperplasia (CAH)

It is a relatively common congenital metabolic disease, and it is autosomal recessive. Due to a congenital defect in an enzyme during steroid hormone synthesis.

The disease is clinically divided into salt-losing type, simple virilizing type, and atypical type (light or late). The consequences of salt-losing type are serious. Clinically, hyponatremia, hyperkalemia, and varying degrees of metabolic acidosis may occur. In severe cases, circulatory failure may cause death. The simple virilization type does not have the above-mentioned crisis in the neonatal period, but the affected male Infants usually have beards, pubic hair, and armpit hair at the age of 4-7 years, and eventually have short stature. Baby girls have virilizing external genitalia; atypical people have no obvious clinical symptoms in early childhood, often due to hairy, premature pubic hair, acne, or women. Visits to adulthood for menopause, amenorrhea, and fertility disorders.

Children diagnosed with CAH after neonatal disease screening should be treated immediately with hormones. Not only can they avoid life-threatening children from life-threatening conditions, but they can also make early judgments and correct the genitalia of female children. Later, with appropriate corticosteroids and sex hormones, the treatment can obtain a better prognosis. For male children, too many androgen disorders can be corrected in time to prevent the occurrence of pseudoprecocious puberty.

For children with CAH who are well-regulated and well-controlled, they have normal sexual development during puberty, and their final adult height can reach a more ideal level.

5. Glucose-6-phosphate dehydrogenase (G6PD) deficiency

It is a common congenital metabolic disorder. Patients develop acute hemolytic anemia or hyperbilirubinemia caused by certain incentives (such as drugs or ingestion of fava beans), so it is also called "faba bean disease". South China is a high-incidence area. The disease is an incomplete dominant inheritance of X-linked, the female heterozygote's performance varies greatly, and can range from normal phenotype to significant deficiency. Therefore, neonatal disease screening may miss some female heterozygotes. The onset of neonatal children can lead to bilirubin encephalopathy and left behind. Children with acute hemolysis may develop symptoms such as shock and acute renal failure.

G6PD deficiency is a hereditary genetic mutation disease. There is currently no special treatment, only symptomatic treatment. Measures such as removing incentives, stopping the use of drugs that induce hemolysis and stopping faba beans, controlling infection, and avoiding contact with naphthalene pills can effectively reduce the incidence.

Carrier cards will be issued to those diagnosed with neonatal disease screening, which will list banned and cautious medications to guide patients to avoid exposure.

It should be noted that the screening of neonatal diseases is different from the diagnosis, and the sensitivity of the screening is about 95%. Although most highly suspicious children can be detected, some factors may affect the experimental results, such as premature babies, low birth weight babies, twins, delayed feeding, sample contamination, etc. For some special types of diseases, such as secondary CH and delayed-onset CAH, G6PD of some women with heterozygosity, newborn disease screening is often missed. Therefore, newborns still need to regularly go to maternity and child health institutions for routine health check-ups and follow-up according to the requirements of child health care to ensure the normal growth and development of children.

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