What is Newborn Screening?

Newborn disease screening refers to the screening of certain serious congenital metabolic diseases and endocrine diseases through blood tests, so that children can be diagnosed and treated early to avoid growth caused by brain, liver, and kidney damage, Mental retardation or even death.

Basic Information

Also known as

Newborn screening

English name

neonatal screening

English alias

newborn screening

Visiting department

Pediatrics

Newborn Disease Screening

Object

All live-born babies born 72 hours (breastfeeding at least 6 to 8 times).

2. content

The type of screening disease varies by race, country, and region, and is also related to the social, scientific and technological development, economic level, and degree of disease harm in each country.

The internationally recognized conditions for screening diseases are: a certain incidence; the lack of special symptoms at an early stage; serious harm; can be treated; reliable screening methods suitable for large-scale screening.

At a conference held in Europe in 1974, 20 diseases were recommended for screening, including phenylketonuria (PKU), maple syrup, histidine, and galactosemia. In 2006, the American Society of Medical Genetics Neonatal Screening Expert Group evaluated the severity of 84 neonatal congenital diseases. According to the screening technology, diagnosis, differential diagnosis, and treatment conditions, it was divided into the first category and 29 types Screening for diseases, 25 types of secondary screening diseases in the second category and it is not easy to screen for diseases at this stage.

The current screening diseases in China are still mainly phenylketonuria (PKU) and congenital hypothyroidism (CH). In some areas, such as glucose-6-phosphate dehydrogenase (G6PD) defects are selected according to the incidence of the disease Screening for diseases and other diseases or start to use tandem mass spectrometry to screen newborns with rare genetic metabolic diseases such as other amino acids, organic acids and fatty acids.

3. Method

(1) Blood collection time Blood collection should be performed 72 hours after the baby is born and breastfeeding at least 6-8 times.

(2) Blood collection filter paper The blood collection filter paper must be consistent with the standard filter paper, which is a special pure cotton high-quality filter paper with fairly uniform texture, thickness, water absorption, and water permeability. The filter paper selected by most neonatal disease screening centers is the internationally recognized American Schleicher & Schuell 903 special filter paper, which not only ensures the quality of screening, but also has comparability with international screening materials.

(3) Choose the blood collection site and method to choose the inside or outside of the heel of the baby. The method is: massage or heat compress the baby's heel to make it congested, puncture it with a disposable blood collection needle after alcohol disinfection, and the depth is about 2 to 4 millimeters. To fully penetrate the back of the filter paper. Each infant is required to collect 3 blood spots, and the diameter of each blood spot should be 10 mm.

(4) Preservation and Delivery of Specimens Blood filter paper is dried in the shade at room temperature and delivered to the screening center within a specified time, or temporarily placed in a paper bag and stored in a refrigerator at 2-10 ° C.

(5) Filling requirements for blood collection cards All items should be filled in one by one on the blood collection cards, and items should not be omitted. The handwriting must be clear and the text must be standardized.

(6) Screening methods With the development of experimental diagnostic technology, most domestic screening laboratories have adopted fluorescence analysis (full quantification) for PKU screening, and very few still use the traditional Guthrie bacterial inhibition method (semi-quantitative). PKU screening can also be performed using high performance liquid chromatography. CH screening includes enzyme-linked immunoassay and enzyme immunofluorescence. Over the past 10 years, developed countries have used tandem mass spectrometry to screen about 25 genetic metabolic defects including amino acid, organic acid, and fatty acid metabolism disorders, which greatly improves the screening efficiency. Tandem mass spectrometry is the development direction of future newborn disease screening.

(7) Processing of screening results In order to ensure the quality of testing, testing is performed by a special person. If the test result is negative, the city and county management centers are generally not notified. If the positive and suspicious cases are re-examined, if they are still positive, they will be reported to the city and county centers. (Or follow-up), review and diagnosis.

(8) Patients who are diagnosed after case tracking should be given long-term and correct medication or diet control in time to ensure the social effect of neonatal disease screening.