Heel blood screening of newborns, and these chaos you don’t know.

"Newborns should take 48 heel blood screening for hereditary metabolic diseases. Has your child taken blood?" Heel blood screening for congenital hypothyroidism and phenylketonuria is required for newborns in China, which is a free item. Recently, a reporter’s investigation found that in some public hospitals, newborns were told to have a heel blood test for 48 diseases in 880 yuan at their own expense. Are the 48 diseases screened at one’s own expense suspected of "hitchhiking" in the national free testing program? Is it necessary to do such tests?

Free screening programs must be paid attention to.

Lv Zhihui, director of the Obstetrics Department of the Affiliated Hospital of Qinghai University, told the Science and Technology Daily reporter that conventional prenatal examination, B-ultrasound examination and MRI (magnetic resonance imaging) examination could not screen out hereditary metabolic diseases. Therefore, the state stipulates that newborns should be screened for congenital hypothyroidism and phenylketonuria after birth.

Phenylketonuria (PKU) is an autosomal recessive disease, which is caused by phenylalanine metabolism disorder in newborns. Phenylalanine is one of the essential amino acids in human body. If the phenylalanine in newborn can not be metabolized normally, it will cause central nervous system damage and a series of pathological changes if it is stored in the body. Children will have symptoms such as black to yellow hair, white skin, and shallow iris. Congenital hypothyroidism (CH) is a disease in which thyroid secretion is reduced due to congenital reasons, which leads to growth retardation and mental retardation of children. Children will have symptoms such as low muscle tone, difficulty in breastfeeding and low body temperature.

"If these two diseases are not treated in time, they will cause serious harm to the baby. Early diagnosis and early treatment after finding abnormality by heel blood can effectively avoid the occurrence of sequelae, and the children can basically return to normal level. If you miss the best treatment period in the first half of your life, you will probably never heal. " Lu Zhihui said.

Self-funded screening items can be selected within the scope of ability.

"Just a few drops of neonatal heel blood can quickly detect 4 kinds of macromolecular genetic and metabolic diseases and 48 kinds of small molecular genetic and metabolic diseases. The inspection fee is paid by 880 yuan. " In the investigation, the reporter found that in the maternity ward of a 3A hospital in Qinghai Province, the medical staff told Mr. Wang, the newborn’s parents. Like most working-class parents, for the sake of their children’s health, Mr. and Mrs. Wang signed the consent form and paid the fee without thinking.

Forty-five days later, Mr. Wang received a phone call from the staff of the testing institution, saying that 48 diseases of the child had passed the test. While the couple were happy, they inquired about the screening of 48 diseases in heel blood. "I don’t know if I don’t check it. After reading a lot of materials and forums, I know that this inspection is not necessary. Many parents question the necessity and rationality of the inspection. If it is necessary to check, why not include it in the scope of medical insurance reimbursement? " Mr. Wang expressed his doubts to the reporter.

The reporter looked up the information and found that 48 kinds of diseases were screened and tested in heel blood, including macromolecular diseases and micromolecule diseases. Macromolecular diseases include publishing diseases and Pompeii’s diseases, while small molecular diseases include organic acids, amino acids and fatty acid metabolic diseases. According to informed sources, whether it is self-funded inspection or free inspection, it is submitted for inspection by third-party institutions.

"I was 27 years old when I gave birth to a child, and I was 35 years old when I had a second child. When I was pregnant, I paid great attention to various pregnancy test indicators, fearing the slightest risk. After the second baby was born, the hospital also informed me that 48 heel blood screening items were self-funded items, and parents could choose not to do them, but considering my age, I think it is still necessary to do them. Even if you spend money, you have to buy peace of mind. " Ms. Liu, a second-born mother from Xi ‘an, can represent some parents’ psychology of saving money at their own expense.

Lv Zhihui believes that in foreign countries, dozens of genetic and metabolic diseases screening are routine projects, while in China, due to the cost of testing nearly 1,000 yuan, it has not yet been popularized. "At present, there are more than 100 kinds of genetic and metabolic diseases that can be screened, and most screening institutions in China screen 48 kinds. Depending on the people’s cognition, acceptance and economic situation, family conditions allow. The incidence of neonatal hereditary metabolic diseases varies according to different countries, races and regions. Although the incidence of screening is only one thousandth to one tens of thousands, it will bring great health risks if you miss the best treatment period abnormally. "

There is market chaos in self-funded testing projects.

With the improvement of people’s living standards, people pay more and more attention to health. Screening for neonatal diseases is a good thing, but at present, the types of screening are dazzling, and most parents do not have the ability to identify what to do and what not to do.

Self-funded testing has spawned a number of domestic third-party testing institutions, most of which are legal, but whether the test results are accurate and scientific does exist mixed phenomena in the industry. According to informed sources, there are also chaos in 48 heel blood screening programs in China. One of the chaos is that many parents are not rational and free to choose. Many hospitals package and sell these 48 screening programs to parents, but they don’t tell them enough information.

The second chaos is that the fees are uneven. Professor Han Lianshu, an expert of neonatal screening experimental group of National Health Planning Commission and deputy head of Shanghai Genetics and Metabolism Group, once mentioned that there are more than 100 hospitals and more than 10 third-party inspection institutions carrying out these screening projects in China, of which 2 to 3 third-party inspection institutions charge nearly 1,000 yuan, but most hospitals and third-party inspection institutions charge around 800 yuan. Some testing costs are only from 80 yuan to 120 yuan, but the market charges may reach 8900 or even thousands of dollars. "In fact, tandem mass spectrometry technology is very mature and the cost is not high." People familiar with the matter said, but at present, the country does not have a pricing and supervision standard, and there are different promotion methods in the market, and the price is chaotic.