Newborn screening is a series of scheduled examinations of newborn babies to rule out congenital metabolic and hormonal disorders and to detect abnormalities in the infant early. Newborn screening is organized nationally and is usually started immediately after birth at the maternity hospital while the mother and baby are still on the ward.
What is newborn screening?
Newborn screening is a series of scheduled tests on newborn babies to rule out congenital metabolic and hormonal disorders and to detect abnormalities in the infant early. Newborn screening involves examining the newborn baby for congenital metabolic and hormonal disorders a few days after birth or at U2. The aim of newborn screening is to detect these at an early stage, as timely treatment can often prevent serious consequential damage or a difficult further life for the baby. For this reason, newborn screening is initiated in the maternity hospital, if possible, by taking blood from the baby’s heel between 36 and 72 hours after birth. This corresponds to the third day of life and can already coincide with the U2 by the pediatrician. If the mother leaves the maternity hospital with the baby beforehand or gives birth at another location, she must visit the pediatrician for the U2 anyway and should combine this with the newborn screening in this time window. In addition to conventional newborn screening, there is also extended newborn screening, which screens for up to 12 possible conditions. This can be supplemented by hearing screening, in which the function of the sense of hearing organs is checked in order to intervene quickly, if necessary, should a disorder be detected. The range of disorders screened includes thyroid function disorders, hormonal and metabolic disorders caused by the function of internal organs, and also some rare disorders, but failure to treat them would mean deep cuts in the child’s daily life.
Function, effect, and goals
Newborn screening is kept as low-impact as possible for the infant. At the time of the U2 appointment or for a separate screening, the attending physician draws blood from the heel, as it is quick at this point and the newborn baby feels the draw as little and as briefly as possible. Afterwards, the baby is allowed to return to the mother immediately and usually calms down quickly. If the mother delivers in a hospital or clinic, the newborn screening is still performed there in consultation with her. If she wants to go home earlier or gives birth elsewhere, she must visit the pediatrician herself for newborn screening. Newborn screening is performed on every newborn baby to rule out serious and sometimes rare diseases with serious consequences for the baby at an early stage. It usually takes hours or days for the blood test results to come in and for the attending physician to talk to the baby’s parents about the newborn screening results. Although most newborn screenings come back with a good result, the goal of screening is to quickly detect congenital conditions. Metabolic diseases are often congenital, and the first clues show up very quickly after birth. Since newborns are still very delicate, a metabolic disease in their first days would naturally be an immense burden. Above all, however, metabolic diseases in newborns can lead to terrible consequential damage if they are not treated. If, on the other hand, they are detected and treated at an early stage, damage can be minimized or even completely ruled out and the foundation laid for a largely normal everyday life. Depending on the state, newborn screening may include a test for cystic fibrosis, as this condition also requires immediate treatment to facilitate the infant’s daily life and maximize his or her quality of life. In some cases, newborn screening can be moved up or back. However, further screening may then be necessary, as the best window for screening is between 36 and 72 hours after birth. This also applies if complications were added at birth and the newborn needs to be treated elsewhere.
Risks, side effects and dangers
Newborn screening requires only a blood sample. The baby will not remember the test or feel pain during it. Some babies may cry after the blood sample is taken, but they can usually be calmed down quickly by their parents. Breastfeeding or cuddling to calm them after the blood sample is taken work very well. The blood sample is taken with a tiny needle, so complications such as bruises or even infections at the puncture site are extremely rare. Modern hygiene measures almost completely rule these out. Special features of newborn screening arise in the case of prematurely born children. If the child is born a few days or even weeks later than expected, or if there was uncertainty about the expected date of delivery, this is irrelevant and the result of the newborn screening is considered valid. Children born before 32 weeks of gestation or just after, and thus considered premature, are also screened after birth, but the screening must be repeated on the calculated date of delivery. At this stage of life, inborn errors of metabolism may not yet be sufficiently detectable in the blood count and may not fully develop until the time the child should have been born. Therefore, within a few weeks after birth, newborn screening is repeated with a new blood draw.
