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Newborn Testing

September 15th, 2011 by Hasham

Newborn Tests and Procedures During Your Baby’s Hospital Stay

Your newborn baby has just arrived. This first, precious, golden hour is upon you. What happens now? Many practitioners will allow you to have the baby placed directly on your abdomen or chest. Warm towels or blankets will be placed over both of you to help keep your baby warm. This time for bonding in many hospitals and birth centers is limited to the first hour, though this can vary from place to place and by your request. Once you and your baby are ready, there are some standards tests that are done for nearly all babies, including those born at home.

Newborn testing is an important thing to think about before labor. During pregnancy we focus so much on the actual birth preparation sometimes we don’t devote enough time to other topics, including newborn testing. I am going to focus on the first few days of your baby’s life and what tests are commonly done.

Newborn Weight and Length

Weight and length are also done routinely everywhere. Although, when these tests are done does vary from place to place. Some hospitals will immediately remove your baby from you and begin an initial assessment. Many professionals believe that this is a bad idea because the baby has a very short window of the quiet alert state in which to really connect with the parents before entering a deeper sleep state. Many parents are requesting in their birth plans that these procedures are delayed until after that first hour of life.

If you are giving birth in a birth center or home, these procedures are more flexible. Talk to your doctor or midwife about the normal protocol and see how it fits with your ideas.

Newborn Eye Drops

Eye drops have changed recently in many states. In the past Silver Nitrate was used routinely and this burned a baby’s eyes, while trying to prevent infection. Now, more commonly you will find Erythromycin used. Make sure you ask.

Again, this is something that you may wish to be delayed until after that first hour of life. While the newer medication doesn’t burn your baby’s eyes it will make it more difficult to see, and newborns can see. There are state laws that govern the application of eye drops. Most states have laws that say it is up to the practitioner to provide the eye drops, with no specific time indicated. Find out what your state law says.

Vitamin K

This is usually an injection given after the birth. Your baby isn’t born with intact clotting factors. This started being common and become law when forceps deliveries were very common, to help prevent bleeding in the brain because of the extra trauma to the baby’s head. Today we are still using this state law and giving babies vitamin K routinely, despite the fact that forceps deliveries have changed and occur less frequently.

Many other countries have newer policies of when to provide vitamin K as opposed to doing it routinely.

Some families are requesting that the vitamin K be given orally. While we aren’t sure how well this works many pediatricians are agreeing to this. Recently vitamin K has been linked to jaundice and even a potential increase in childhood leukemia. Discuss the issues with your pediatrician.

What tests can be performed after my baby is born?

According to the March of Dimes, there are tests for over 30 disorders. However, not all states test for all of these disorders. The March of Dimes feels that states should screen for at least 30 specific disorders. The following list of these 30 disorders also includes the amount of babies affected if the data is known:

1. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC)

2. 3-OH 3-CH3 glutaric aciduria (HMG)

3. Argininosuccinic acidemia (ASA)

4. Beta-ketothiolase deficiency (BKT)

5. Biotinidase deficiency (BIOT); 1 in 60,000

6. Carnitine uptake defect (CUD)

7. Citrullinemia(CIT)

8. Congenital adrenal hyperplasia (CAH); 1 in 19,000

9. Congenital hypothyroidism (HYPOTH); 1 in 3,000

10. Cystic fibrosis (CF) affects approximately 30,000 children and adults in the United States

11. Galactosemia (GALT); 1 in 50,000

12. Glucose-6-phosphate dehydrogenase deficiency (G6PD)

13. Glutaric acidemia type I (GA I)

14. Hb S/Beta-thalassemia (Hb S/Th)

15. Hb S/C disease (Hb S/C)

16. Hearing deficiency; 3-4 in 1,000

17. Homocystinuria (HCY); 1 in 350,000

18. Isovaleric academia (IVA)

19. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD)

20. Maple syrup urine disease (MSUD); 1 in 230,000

21. Medium chain acyl-CoA dehydrogenase deficiency (MCAD)

22. Methylmalonic acidemia (Cbl A,B)

23. Methylmalonic acidemia (mutase deficiency) (MUT)

24. Multiple carboxylase deficiency (MCD); 1 in 20,000

25. Phenylketonuria (PKU); 1 in 14,000

26. Propionic acidemia (PROP)

27. Sickle cell anemia (SCA); 1 in 400 African Americans and at lower frequency among Hispanics, Mediterranean, Middle Eastern and South Asian descent

28. Trifunctional protein deficiency (TFP)

29. Tyrosinemia type I (TYR I)

30. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)

The most common disorders that are tested for are Phenylketonuria (PKU), Congenital Hypothyroidisim, Galactosemia, Maple Syrup Urine Disease, Homocystinuria, Biotinidase, Sickle Cell Disease, Congenital Adrenal Hyperplasia and Cystic Fibrosis. The American Academy of Pediatrics recommends that a repeat specimen be taken 1 to 2 weeks later from infants whose initial test was taken within the first 24 hours of life.
What tests does my state screen for?

For a list of all the states in the US and what screening tests they do you can go to the National Newborn and Genetics Resource Center. Newborn screening tests are required by the state and are mandatory. If you do not wish to have these tests performed you must discuss this with your health care provider.
How and when is the testing done?

Blood is drawn from the heel of the baby, also known as the heel-stick test, before the baby is discharged from the hospital or within a few days of birth. The March of Dimes (MOD) has a timeline for the best time to take the test.

Optimal time for taking blood specimen for testing: Baby is 3-5 days old or between the first 48-96 hours of life.

Satisfactory time for taking blood specimen for testing: Baby is 2 days old or at least 24 hours since birth.

Limited results from blood specimen: Baby is 1 day old or less than 24 hours since birth.

There are two different testing types: newborn screening (NBS) and tandem mass spectrometry (MS/MS). The difference between these two tests is that MS/MS tests for many disorders at one time.

In most cases, you will not be notified if the results are negative. If the result is positive for any of the disorders, you will be notified immediately and further testing will be done to confirm any diagnosis. Results can be abnormal if the blood was drawn too early, the baby was premature, or other reasons.
Should I get additional screening tests for my baby?

There are many reasons why health care providers and hospitals do not perform certain tests. These reasons could be due to cost, low risk, availability, insurance and staffing. These tests are provided through a health care provider’s written order and it is best to discuss any of these screening tests with your health care provider. Possible reasons to consider additional screening tests would be:

* Previously affected child
* History of a previous infant death with possible metabolic disorder
* At risk ethnic population
* Family history of disorder
* Premature birth

Health care providers may feel that additional testing is not necessary because the risk of the baby having a disorder is extremely low and/or the test is not available. However, there are kits that you can order from hospitals or laboratories that have these tests available. All you have to do is ask your health care provider for an extra blood sample.

Health Experts Recommend More

Although most states require only a handful of tests, a panel of experts convened by the U.S. Department of Health and Human Services and the March of Dimes recommends newborns be screened for 30 genetic disorders, including hypothyroidism, cystic fibrosis, and sickle cell anemia. All of the disorders can be detected through a simple blood test, and many can be treated relatively easily — by changing a baby’s diet, for example, or by feeding a baby more frequently.

The Centers for Disease Control and Prevention, the March of Dimes, and the American Academy of Pediatrics also recommend that, in addition to genetic testing, all newborns be tested for early hearing loss before leaving the hospital.

To learn more about recommended newborn testing: The March of Dimes, an organization whose mission is to prevent birth defects and infant mortality, provides information about newborn screening on its website at.

Biography
Patricia Hughes is a freelance writer and mother of four. Patricia has a Bachelor’s Degree in Elementary Education from Florida Atlantic University. She has written extensively on pregnancy, childbirth, parenting and breastfeeding. In addition, she has written about home décor and travel.

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