Infant disease screening

Infant disease screening is an early screening project for congenital diseases carried out 3 to 7 days after birth and after full breastfeeding, through heel pricking, hearing testing and other methods. The current national free basic screening missed diagnosis rate of serious diseases is less than 0.5%. Early intervention can avoid more than 90% of irreversible mental and physical damage. All healthy full-term newborns should complete basic screening. High-risk families can supplement high-incidence rare disease screening items as needed, without blindly purchasing high-priced full screening packages.

I was stationed at the obstetrics department a while ago, and I met a new father born after 1995. He held the informed consent form and wandered around for almost ten minutes. He stared at the wrinkled baby in the swaddling clothes and frowned, fearing that the heel would pierce the blood and cause the baby to cry. In fact, I have seen this kind of struggle too many times. Many parents' understanding of screening is still "no need to check if there are no symptoms." They do not realize that the most cunning thing about these congenital diseases is that there is almost no abnormality before half a year old. By the time it is discovered that the development cannot keep up, the damage to intelligence and nerves has been irreversible.

I was particularly impressed by a little girl I followed up last year. Phenylketonuria (PKU) was diagnosed by taking blood from her heel 3 days after she was born. On that day, her parents changed her to a special formula milk powder according to the doctor’s instructions. Now she is 3 years old, can recite Tang poems, run and jump, and goes to kindergarten exactly like a normal child. If this blood screening had not been done at the beginning, when her hair was slowly turning yellow and her reaction was slower than other babies when she was six months old, no amount of intervention would be able to recover the lost intelligence. To put it bluntly, these tens of dollars of free screening can really change a child's life.

Of course, now many parents will also encounter another paid screening informed consent form handed over by the nurse, ranging from hundreds of yuan for 10 tests to thousands of yuan for hundreds of tests. In fact, this area has always been controversial. I have been working in the pediatric follow-up team for two years, and I have seen the regrets of missed screenings that lead to children with low intelligence, and I have also seen the consequences of over-screening causing the whole family to panic. Last month, a young mother spent more than RMB 8,000 on a full set of genetic screening, and a genetic mutation of unknown significance was found. She carried her baby to three hospitals, read foreign literature for half a month, and cried for several days. Finally, the genetic doctor told her that the mutation had no clear pathogenicity at present, and the baby had no symptoms. Regular follow-up was enough. She had suffered for half a month in vain.

As for how to choose paid screening, the doctors in our department actually don’t have a completely unified view: Young doctors who do genetic research believe that if there is a child who has died of unknown reasons in the family, or both husband and wife have a genetic history, there is no harm in doing the full set, which is equivalent to saving a genetic file for the child, so that if there is any problem in the future, he can quickly compare it; he has been doing this for thirty years. The old director of the insurance department felt that there was no need for ordinary healthy families to join in the fun. Just choose SMA (spinal muscular atrophy) and congenital adrenocortical hyperplasia, which have relatively high incidence rates and have clear intervention methods, to check. For a hundred dollars, the price-performance ratio is very good. Checking for those rare diseases with an incidence rate of one in hundreds of thousands would simply put a psychological burden on yourself. To put it bluntly, basic screening is like the social security we pay. It is a must-buy and you will definitely make money without losing money; paid additional screening is like commercial insurance, which can be purchased as needed. Don’t be fooled by sales into buying a bunch of additional insurance that you don’t need at all.

The thing that many parents feel most distressed about is pricking their heel to draw blood. I have seen too many parents cry harder than their children when drawing blood. In fact, it is not that exaggerated. It is just like the routine of pricking the fingertips for blood tests. The baby cries twice and is comforted twice. For those who fail the first hearing screening, don’t collapse on the spot. Many of them are because the amniotic fluid and fetal fat from birth are still in the ears. 90% of them will pass smoothly at the 42-day re-examination. There is no need to ponder at home for several days. Oh, yes, a little experience from talking to the blood collection nurse: before collecting blood from the heel, feed the baby enough milk and wrap it warmer. When he is awake, he will be less frightened when he is pricked than when he is asleep, and the crying time will be shorter.

If you do encounter a notice of positive initial screening, don’t rush into confusion. Go to a designated institution for re-examination first. The false positive rate of basic screening is not low, especially the initial screening for congenital hypothyroidism. Many of them are due to temporary hormone fluctuations in newborns, so the probability of re-examination is particularly high. Even if they are finally diagnosed, most of the diseases included in screening now have clear intervention plans, and many are even covered by medical insurance. The effect of early intervention is much better than late intervention.

In fact, in the final analysis, the essence of infant screening is to get the first certainty in the baby's life. There is no need to deify its role, and don't use "the baby looks fine" as an excuse to escape. The free ones are done first, and the paid ones ask the doctor if there are any high-risk factors, and just choose the one that suits you - after all, a healthy baby is better than anything else.