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2022
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11
Why do newborns need to have heel blood samples taken? This screening is essential!
Newborn metabolic disease screening is an effective method for early detection of affected children. If detected and treated early, the affected babies can develop healthily just like normal children.
Author:
The baby was only a few days old.
Then the nurse took him away.
To collect the 'heel blood'.
Parents are quite anxious:
Will the baby feel pain when the needle goes in?
What is the purpose of collecting heel blood?
Is it possible not to collect it?
With the development of science and technology, people can detect relevant indicators in the blood of newborns through laboratory tests, allowing for early detection and effective treatment before disease symptoms appear, thus preventing unfortunate events.
Newborn metabolic disease screening is an effective method for early detection of affected children. If detected and treated early, sick babies can develop healthily like normal children; however, if discovered late and treatment is not timely, the baby may experience severe growth and developmental disorders and intellectual disabilities. Therefore, parents must actively cooperate with hospitals to conduct heel blood screening according to the screening procedures.
There are currently dozens of metabolic diseases that can be screened. In our country, the legally mandated screenings for phenylketonuria (PKU) and congenital hypothyroidism (CH) have been included in free screening programs and must be performed. Newborn disease screening only requires a few drops of heel blood from the baby to screen for dozens of metabolic diseases, including PKU and CH.
01
Screening methods
1. The blood collection time for healthy newborns is within 72 hours to 7 days after birth, and they should be adequately breastfed, preferably not exceeding 20 days after birth. Blood samples of four drops should be taken from the inner and outer edges of the heel and sent to the newborn disease screening center for laboratory testing.
2. If suspicious cases are found, the screening center will promptly notify the parents. Once parents receive a re-examination notice, they must take the baby to the hospital for a re-examination as soon as possible to conduct detailed checks for a clear diagnosis, allowing for timely treatment before clinical symptoms appear.
02
Four diseases screened
1. Phenylketonuria (PKU)It is an autosomal recessive genetic amino acid metabolic disorder caused by a deficiency of phenylalanine hydroxylase, leading to the accumulation of phenylalanine in plasma or tissues due to abnormal metabolism. PKU infants do not show specific clinical symptoms during the newborn period but may exhibit feeding difficulties, vomiting, and eczema. Abnormalities gradually appear after about 3-4 months, with urine and sweat having a musty odor, extreme excitement, high muscle tone, and even convulsions, leading to intellectual developmental delays. Early diagnosis and a low-phenylalanine diet can result in normal intellectual development.
2. Congenital hypothyroidism (CH)It is a disease caused by insufficient synthesis of thyroid hormones or receptor defects, leading to growth retardation and intellectual disability. Most CH infants are asymptomatic during the newborn period or may have delayed jaundice, constipation, abdominal distension, etc., making it easy to misdiagnose. Typical symptoms appear after six months, including a characteristic appearance and posture (large head, short neck, swollen face, wide-set eyes, low nasal bridge, thick lips), intellectual developmental disorders, and low physiological function. Early detection and treatment can prevent the occurrence of intellectual disabilities.
3. Congenital adrenal hyperplasia (CAH)It is a group of diseases caused by enzyme deficiencies in the steroid hormone synthesis pathway of the adrenal cortex, classified as autosomal recessive genetic diseases. 21-hydroxylase deficiency is the most common type, divided into simple virilizing type, salt-wasting type, and non-classic type. The simple virilizing type presents as pseudoprecocious puberty in boys and pseudosexual ambiguity in girls. The salt-wasting type shows severe vomiting, diarrhea, difficult-to-correct hyponatremic dehydration, and severe acidosis shortly after birth. If not diagnosed and treated promptly, it can be life-threatening.
4. Glucose-6-phosphate dehydrogenase deficiency (G6PDd)It is an X-linked incomplete dominant genetic disease. Its onset is often triggered by the ingestion of fava beans, hence it is also known as 'fava bean disease'. Patients may experience acute hemolytic anemia and hyperbilirubinemia under conditions of infection, oxidative stress, or food and drug triggers, with severe cases leading to kernicterus and even life-threatening situations. Prevention is crucial; timely detection of G6PDd patients through newborn disease screening and avoiding exposure to related food and drug triggers are the main measures for prevention.
Why is the blood collection site at the heel?
Some mothers may wonder, since it is all about blood collection and testing, why is the heel chosen as the blood collection site? Can't blood be drawn from the finger or other areas?
There are two reasons:
1. Collecting blood from the heel is simpler than from the hand.
In fact, screening for these diseases does not necessarily require heel blood; blood from other sites can also be used.
However, the blood supply in the newborn's foot is relatively rich, which helps doctors locate the baby's blood vessels and allows for quick collection of the required blood volume.
Moreover, the newborn's hands are generally in a clenched state, and if blood is to be drawn from the hand, it would require forcibly prying open the baby's hand, which could affect the development of the baby's hand.
Therefore, drawing blood from the heel is the most appropriate.
2. Drawing heel blood causes less harm to the baby.
Many mothers feel sorry for their babies when they cry loudly during heel blood collection and even worry about whether the baby will be harmed.
But in fact, when drawing heel blood, the baby's pain sensation is relatively less pronounced compared to other areas, and the harm to the baby is also relatively low, so mothers need not worry too much.
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