新生儿筛查试验

定义

新生儿筛查试验 look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early.

The types of newborn screening tests that are done vary from state to state. 到2011年4月, all states reported screening for at least 26 disorders on an expanded and standardized uniform panel. The most thorough screening panel checks for about 40 disorders. 然而,由于 苯丙酮酸尿 (PKU) was the first disorder for which a screening test developed, some people still call the newborn screen "the PKU test".

除了验血, screening for hearing loss and critical congenital heart disease (CCHD) is recommended for all newborns. Many states require this screening by law as well.

选择的名字

Infant screening tests; Neonatal screening tests; The PKU test

如何执行测试

Screenings are done using the following methods:

• 血液测试. A few drops of blood are taken from the baby's heel. The blood is sent to a lab for analysis.
• 听力测试. A health care provider will place a tiny earpiece or microphone in the infant's ear. Another method uses electrodes that are put on the baby's head while the baby is quiet or asleep.
• CCHD屏幕. A provider will place a small soft sensor on the baby's skin and attach it to a machine called an oximeter for a few minutes. The oximeter will measure the baby's oxygen levels in the hand and foot.

如何准备考试

There is no preparation needed for newborn screening tests. The tests are most often done before leaving the hospital when the baby is between 24 hours and 7 days old.

考试的感觉如何

The baby will most likely cry when the heel is pricked to get the blood sample. Studies have shown that babies whose mothers hold them skin-to-skin or breastfeed them during the procedure show less distress. Wrapping the baby tightly in a blanket, or offering a pacifier dipped in sugar water, may also help ease pain and calm the baby.

The hearing test and the CCHD屏幕 should not cause the baby to feel pain, cry, or respond.

为什么要进行测试

Screening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses.

If follow-up testing confirms that the child has a disease, 可以开始治疗了, 在症状出现之前.

Blood screening tests are used to detect a number of disorders. 其中一些可能包括:

• 氨基酸代谢紊乱
• Biotinidase不足
• 先天性肾上腺增生
• 先天性甲状腺功能减退
• 囊性纤维化
• 脂肪酸代谢紊乱
• 半乳糖血症
• Glucose-6-phosphate dehydrogenase deficiency (G6PD)
• Human immunodeficiency disease (HIV)
• 有机酸代谢紊乱
• 苯丙酮酸尿(北大)
• Sickle cell disease and other hemoglobin disorders and traits
• 弓形体病

正常的结果

Normal values for each screening test may vary depending on how the test is performed.

注意: Normal value ranges may vary slightly among different laboratories. Talk to your provider about the meaning of your specific test results.

异常结果意味着什么

An abnormal result means that the child should have additional testing to confirm or rule out the condition.

风险

风险 for the newborn heel prick blood sample include:

• 疼痛
• Possible bruising at the site where the blood was obtained

注意事项

Newborn testing is critical for the baby to receive treatment. 治疗可能会挽救生命. However, not all disorders that can be detected can be treated.

Although hospitals do not perform all screening tests, parents can have other tests done at large medical centers. Private labs also offer newborn screening. Parents can find out about extra newborn screening tests from their provider or the hospital where the baby is born. 像“银币游行”这样的组织 www.marchofdimes.org also offer screening test resources.

参考文献

Centers for Disease Control and Prevention website. 新生儿筛查门户. www.疾病预防控制中心.gov / newbornscreening. 更新于2021年11月29日. 2023年5月26日生效.

麦坎德利斯SE，克里普斯KA. Genetics, inborn errors of metabolism, and newborn screening. 见:Fanaroff AA, Fanaroff JM，编. Klaus and Fanaroff's Care of the High-Risk Neonate. 7日艾德. St Louis, MO: Elsevier; 2020:chap 6.

Sahai我. 新生儿筛查. 见:Gleason CA, Sawyer T，编. 艾弗里新生儿病. 11日艾德. Philadelphia, PA: Elsevier; 2024:chap 18.