Pregnancy is often faced with all sorts of fears. Women during their childbearing years are always seen to be wary on how healthy their baby is inside their wombs. They worry much about their baby’s looks, deformities, and some congenital disorders that could hinder their baby’s well being. Though there are many diagnostic procedures that tend to detect abnormality or deficiencies in the child during their pregnancy, there are other genetic or metabolic conditions that could progress into much complication if not determined and treated right away during the earliest possible time when the child is born. These conditions frequently deceive mothers because babies may still look normal, not until a certain time that symptoms may become full-blown resulting to mental retardation or worst, death.
The answer to this weariness is laid upon by Newborn Screening. It is simple yet reliable procedure performed as the earliest detection of the five common genetic or metabolic disorders affecting the newborns.
It has tackled many survivors; saving almost 45, 283 neonates from the time it has been implemented in the Philippines last 1996 up to the year of 2010 (Newborn Screening Reference Center, as of December 2010). It has made a great impact on the reduction of neonatal and child morbidity and mortality for the past years relying on the Republic Act no. 9288, known as Newborn Screening Act of 2004 which specifically stipulates the “National NBS System”; giving equal opportunities to all neonates to be able to undergo it.
The integration of NBS in the health care delivery system in the public health has gained enormous positive outlooks and as well defied the passive commitment of family as a single unit in the community to the services being offered to them. In addition to that, health care practitioners are expected to be apt in disseminating the importance of this health care service. Their role and obligation to teach every parent-to-bees about newborn screening creates the basic fundamental aspect.
Here are the frequently asked questions about NBS
1. What is Newborn Screening and how is it important?
Newborn screening as mentioned above is a procedure that helps detect the five common metabolic or genetic disorders that could occur in newborns. These metabolic disorders are still preventable if only can be determined and treated as early as possible.
During prenatal counsellings, NBS is being emphasized because of the inclination in neonatal mortality and child morbidity in the country. It happens that it provides a glint of hope for parents with their diagnosed child, which should not be regarded as a source of fear since a child diagnosed with such metabolic disorder can still resume a normal life if dealt with well.
2. How is NBS done? Is it safe?
Of course, it is safe. Up to now, there are no adverse reactions reported about it. The baby is being properly checked by a physician for other ailments prior to procedure; if there is, it is being noted in the record. Meanwhile, only a few drops of blood are needed in the procedure.
Through the heel-prick method (a technique used to draw a blood sample from the heel of the baby) a few blood sample is dropped in a special absorbent filter card, which is then being dried in room temperature and sent to the nearest Newborn Screening Center to be processed and interpreted.
3. When is it advisable to be performed?
It is usually performed during the first 48 to 72 hours of life of the baby, but at times it could be also done after 24 hours from birth.
4. How can we access our child to it? How much does it costs?
Newborn screening is almost available in all hospital facilities, some lying- in, and private clinics. Rest assured that it can be readily availed in the Rural Health Units and Public Health Centers. Nurses, midwives, and physicians may suggest you to have your child screened after 24th hour after delivery.
Philhealth has been sensitive to the needs of every family which made them infused Newborn Care Package with Newborn Screening. If the head of the family or the mother is a member, the package can be availed free of charge. Unless otherwise you are a non-member, then it could cost Php 550.
5. How will we be able to know the result of the procedure?
Usually, the result can be drawn after 7-14 days after the submission to the NSC or Newborn Screening Center. The result is being sent back to place of extraction, for instance, Rural Health Unit. Any result is considered confidential and you will be contacted through the contact number you provided during the procedure.
Be it known, that a result of NEGATIVE is referred as normal; while a result of POSITIVE means the baby should be retested. If the result is positive, the parents are often advised to bring their child to the nearest NSC for confirmatory testing.
6. What are those metabolic disorders that are being detected by NBS?
1. Congenital Hypothyroidism (CH) – it is due to the shortage or the total absence of the thyroid hormone, which regulates the metabolism of the body. It is a key for the proper growth and development of an individual, thus if not managed within a matter of two weeks, this could result to mental and growth retardation.
2. Congenital Adrenal Hyperplasia (CAH) – it is a disorder lacking in salt-and water regulating hormones by which leads to dehydration and severe salt loss. It is also fused with high levels of male sex hormones occurring in both male and female children. Sad to say, due to the threat of severe dehydration and electrolyte loss, a child may die within 7-14 days if not treated well.
3. Galactosemia (GAL) – it is a result of the lack of uridyl transferase, which facilitates the formation of glucose to galactose. Galactose is present in milk which is the primary food source of the baby; in this disease, the child has the inability to process this which in return could result to increased concentration of galactose in the blood. Accumulation of galactose in the body is harmful which could make liver damage, mental retardation and cataract as its consequences. Thus, this disorder can be controlled my administration of galactose free diet to the client.
4. Phynelketonuria (PKU) – it results from the absence of phenylalanine hydroxylase, which converts phenylalanine to tyrosine; an essential amino acid. The accumulation of phenylalanine in the body could put damage in the nervous system that is why children diagnosed with this condition is managed through a diet low in phenylalanine and by adding tyrosine in.
5. Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD) – is the lack in G6PD resulting to premature destruction of red blood cells or sometimes, abnormal toxic accumulation of bilirubin in the central nervous system which may happen when exposed to oxidative substances found in foods and drugs or chemicals.
The slogan, “Every child deserves a normal life”, inculcates that every parent deserves, too, to be informed of this and has full responsibility to submit their child to newborn screening. That is because according to the rights of a child, saying that, every child has the right to have adequate food and a healthy and active body.