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New born screening is a form of preventive health care in which babies are tested within the first 48 hours (approx.) of their life to discover evidence of diseases for which the principal symptoms may not be apparent.

In certain serious congenital metabolic disease the correct treatment given quickly can prevent death, development disability or other serious problems. Most of the children suffering from these very rare diseases appear to be completely normal at birth. In order to start treatment before symptoms appear and before permanent damage has to develop, screening tests are used to detect the earliest signs of the disease.

Only by testing all babies can we be sure of finding the few sick babies, for whom early recognition and treatment of the disease is vital. Screening is simple- the test is carried out with a few drops of blood taken on blotting paper when the baby is about 2 days old and has started taking milk.

It is important to recogonise that the newborn screening process involves far more than just the screening. The institution of a program requires that systems are in place for the efficient collection of samples from all newborns, for the reporting of results and possible recall of a child for diagnostic testing. Most important, a system must be in place to ensure babies with confirmed disorders receive the timely treatment that they require.

First, a DR, nurse, midwife, or other trained member of the hospital staff will fill out a newborn screening card. One part of this card is the filter paper to collect the baby’s blood sample. The other part is for important information for the lab performing the screen, such as the baby’s name, sex, weight, date/time of birth, date/time of heel stick collection, and date/time of first feeding. It will also include the contact information of the parents and the baby’s primary care provider for the follow-up results.

During the blood test, which is sometimes called a heel prick test, the baby’s heel will be pricked to collect a small sample of blood. Parents are welcome to be a part of this process by holding their baby while the heel stick is performed. Studies show that when mothers or health professionals comfort babies during this process, the babies are less likely to cry. The health professional will put drops of blood onto the filter paper card to create several “dried blood spots.” The newborn screening card is then sent to the state laboratory for analysis. Please note, if your DR has not offered you a test please DEMAND one.

The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected if the blood sample is drawn before 24 hours of age. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an infant that has the condition. Some states require babies to undergo a second newborn screen when they are two weeks old. This precaution ensures that parents and health professionals have the most accurate results.

A: Most babies experience some brief discomfort from the heel stick, but it heals quickly and leaves no scar.  The following suggestions may help make the screening experience more comfortable for you and your baby:

  1. Nurse/feed the baby before and/or after the procedure.
  2. Hold the baby during the procedure
  3. Make sure the baby is warm and comfortable during the procedure. Studies show that when mothers or health professionals comfort babies during the heel stick, the babies are less likely to cry.

Most babies are born healthy. However, some infants have a serious medical condition even though they look and act like all newborns. These babies generally come from families with no previous history of a condition. Newborn screening allows health professionals to identify and treat certain conditions before they make a baby sick. Most babies with these conditions who are identified at birth and treated early are able to grow up healthy with normal development.

The blood spot screening test helps to identify a range of health conditions, including:

  • Sickle cell disease: an inherited blood disorder. Treating babies will help prevent serious illness.
  • Cystic fibrosis: a life-limiting inherited disorder that affects the internal organs, especially the lungs and digestive system.
  • Phenylketonuria (PKU): a very rare condition that can cause mental disability (but is treatable once diagnosed).
  • Congenital hypothyroidism: another rare condition that can lead to impaired growth and mental development. Treated babies can develop normally.
  • Medium-chain acyl Co-A dehydrogenase deficiency (MCADD): a rare, but potentially life-threatening inherited disorder, where fat cannot be broken down by the body as well as usual. Babies with MCADD develop normally, but recognising the condition early enables parents to make sure they eat regularly and avoid serious illness.

The ZB Foundation will pay the cost of all babies born in Pakistan to receive a heel prick test. If you would like to pay for your childs test in order for another child to receive a paid test, then please notify The ZB Foundation directly.

As The ZB Foundation are the pioneers for New Born Screening within Pakistan, our mission is to inform all DRs that this simple test is free of charge and can infact, save your babies life. If your DR does not offer this test, please insist he perform the test or contact The ZB Foundation directly and we will do the test for you.

The ZB Foundation will inform your DR of the results. You will only be contacted if your child needs further tests or medical support. A NEGATIVE SCREEN MEANS THAT THE NBS RESULT IS NORMAL.A positive screen means that the newborn must be brought back to his/her health practitioner for further testing