Главная 7 Wellness Blog 7 Newborn Testing: Types of Tests for Newborns

Newborn Testing: Types of Tests for Newborns


Newborn Testing

Newborn Testing: Types of Tests for Newborns

Now that you have had your baby, there is still one more thing to do before your baby heads home. Depending on what state you live in, there are a number of different screening tests that your baby will receive.

These tests are intended to detect disorders that could result in complications such as early mortality or lifelong disability. Generally, most states only test for selected disorders and not all states do the same screening tests. It is important to be informed about any and all tests that are available for your baby.

According to the March of Dimes (MOD), there are tests for over 30 disorders. However, not all states test for each of these disorders. The March of Dimes believes that states should screen for at least the 30 specific disorders for which effective treatment is available.

The following list of these disorders also includes the number of babies affected if the data is known:

1. 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) 2. 3-OH 3-CH3 glutaric aciduria (HMG) or 3-hydroxy-3methylglutaryl-CoA lyase deficiency 3. Argininosuccinic acid lyase deficiency (ASAL): 1 in 70,000 babies 4. Beta-ketothiolase deficiency (BKD) 5. Biotinidase deficiency (BIOT): 1 in 75,000 6. Carnitine transporter deficiency (CTD) or carnitine uptake defect (CUD): 1 in every 40,000 babies 7. Citrullinemia (CIT) 8. Congenital adrenal hyperplasia (CAH): 1 in 15,000 9. Congenital hypothyroidism (HYPOTH): 1 in 3,000 10. Cystic fibrosis (CF) 11. Galactosemia (GALT): 1 in 30,000-60,000 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 every 200,000 18. Isovaleric academia (IVA) 1 in every 230,000 19. Long-chain L-3-OH acyl-CoA dehydrogenase deficiency (LCHAD) 20. Maple syrup urine disease (MSUD): less than 1 in 100,000 21. Medium chain acyl-CoA dehydrogenase deficiency (MCAD) 22. Methylmalonic acidemia (MMA, Cbl A,B) 23. Methylmalonic acidemia with Homocystinuria (MMA + HCU) 24. Medium chain acyl-CoA dehydrogenase deficiency (MCAD): 1 in 15,000 25. Phenylketonuria (PKU): 1 in 25,000 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): 1 in every 100,000 babies 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 one to two weeks later from infants whose initial test was taken within the first 24 hours of life.

For a list of the screening tests performed in your state, you can visit the National Newborn and Genetics Resource Center. Newborn screening tests are required by the state. If you do not wish to have these tests performed, you must discuss this with your healthcare provider.

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: When the baby is 3-5 days old or between the first 48-96 hours of life.
  • Satisfactory time for taking blood specimen for testing: When the baby is 2 days old or at least 24 hours since birth.
  • Limited results from blood specimen: When the 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 performed to confirm any diagnosis. Keep in mind that results can be abnormal if the blood was drawn too early or if the baby is premature. Other factors may contribute to an abnormal result as well.

Should I get additional screening tests for my baby?

There are many reasons why doctors and hospitals do not perform certain tests. This could be due to availability of the test, cost, insurance, staffing, and if your baby has a low risk of having a disorder. These additional tests are provided through a doctor’s written order, and it is best to discuss them with your doctor.

Possible reasons to consider additional screening tests would be:

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

If you doctor thinks that additional testing is not necessary, there are kits you can order from hospitals or laboratories that have these tests available. All you have to do is ask your doctor for an extra blood sample.

Where can I get more information about these tests and disorders?

If you would like to get additional testing, you can find out more information from savebabies.org

You can also call Baylor Medical Center at 1-800-4-BAYLOR (1-800-422-9567) or Mayo Medical Laboratories at 1-800-533-1710 where you can request a kit. These kits range anywhere from $25-$77 and test for 30-35 disorders.

If you are interested in learning more about these disorders, you can contact the March of Dimes or National Newborn and Screening Resource Center

Also, if you are planning to have a baby, you can get more information on genetic counseling and testing.

Похожие статьи

  • Prenatal Testing

    Non-invasive prenatal paternity test is the safest testing for you and baby during pregnancy. If you need to know the father of your child and are not…

  • Paternity Testing

    Contents Answers to Frequently Asked Questions About Paternity Testing: What risk does DNA testing pose to the mother and the developing baby? Can an…

  • Female Fertility Testing

    Female Fertility Testing When a couple has been unsuccessful at achieving pregnancy after one year, both partners need to go through a comprehensive…

  • Quad Screen Test

    Quad Screen Test The quad screen test is a maternal blood screening test that looks for four specific substances: AFP , hCG , Estriol, and Inhibin-A….

  • First Trimester Screen

    First Trimester Screen The First Trimester Screen is a new, optional non-invasive evaluation that combines a maternal blood screening test with an…

О admin

Оставить комментарий

Этот сайт использует Akismet для борьбы со спамом. Узнайте как обрабатываются ваши данные комментариев.


Check Also

Menstruation: A Journey Through Your Cycle, APA

Menstruation: A Journey Through Your Cycle Home / Women's Health / Menstruation: A Journey Through Your Cycle Menstruation is the discharge of blood and tissue from the lining of your uterus that occurs at the beginning of your menstrual cycle.

Best Pregnancy Pillow For Pregnancy (VIDEO) Wellness Blog

Contents 5. Moonlight Slumber Comfort-U Total Body Support Pillow 6. Preggle Chic Jersey XL Extra Long Comfort Air-Flow Body Pillow Discover the Maternity Pregnancy Pillow Pros and Cons! JOIN THE APA NEWSLETTER Maternity Photo Shoot Ideas and Tips   Best Pregnancy Pillow For Pregnancy (VIDEO) W ho could have imagined sleep during pregnancy would become a challenge? Looks like a job for hands down the best pregnancy pillow.

HPV During Pregnancy: Symptoms, Treatment and Prevention

Human Papillomavirus: HPV HPV During Pregnancy: Symptoms, Treatment and Prevention HPV, the Genital Human Papillomavirus, is a viral infection that affects nearly 6,200,000 new individuals each year.

Health – Fitness Archives Wellness Blog

Category - Health & Fitness A great way to bond with your baby during pregnancy is to track your baby's development month by month. Labor and birth are the most anticipated part of a pregnancy.

Comité Asesor Médico

Contents Helpful Information Pregnancy Comité Asesor Médico La se compromete a proporcionar usted con la información más precisa y actualizada relacionada con su embarazo reproductiva, y las necesidades de salud sexual.

Premature Ovarian Failure: Premature Menopause

Contents Is there a difference between Premature Ovarian Failure (POF) and Menopause? What are the Symptoms for Premature Ovarian Failure (POF)? What are my options if I have Premature Ovarian Failure (POF)? Premature Ovarian Failure: Premature Menopause Home / Women's Health / Premature Ovarian Failure: Premature Menopause Approximately 1 in every 1000 women between the ages of 15-29 and 1 in every 100 women between the ages of 30-39 are affected by premature ovarian failure (POF) also called premature menopause.

Labor and Delivery Prenatal Classes (VIDEO), APA Wellness Blog

Contents JOIN THE APA NEWSLETTER Bonding with your Baby: Making the Most of the First Six Weeks   Labor and Delivery Prenatal Classes (VIDEO) This is part two of a three-part Prenatal Classes series by midwife Holliday Tyson.

Fibroid Tumors: Causes, Diagnosis and Treatment

Contents Fibroid Tumors: Causes, Diagnosis and Treatment What are the different types of fibroids in the uterus? What is the health concerns related to uterine fibroids? Fibroid Tumors; Fibroid Uterus Fibroid Tumors: Causes, Diagnosis and Treatment Fibroid tumors are usually undetected non-cancerous masses that grow in the uterus.

Breastfeeding Latch: Proper Positioning

Breastfeeding Latch The most important part of successful breastfeeding is the latch. If your baby is not properly latched on to your breast, feedings could be painful.

Yeast Infections

Yeast Infections A yeast infection occurs when the normal levels of acid and yeast in the vagina are out of balance and cause a very uncomfortable, but not serious, condition called a yeast infection.

Hives During Pregnancy: Causes, Treatment – Prevention

Hives During Pregnancy About 1 in 5 pregnant women experience changes in their skin during pregnancy, including acne, skin darkening, and stretch marks. Although women may feel self-conscious about these new “beauty marks,” skin changes during pregnancy are a normal occurrence.

Genital Herpes

Genital Herpes Genital herpes, also known as herpes simplex virus (HSV), is a viral infection that affects nearly 1,600,000 new individuals each year. Approximately 45 million Americans are currently infected with genital herpes.

Bonding with your Baby: Making the Most of the First Six Weeks Wellness Blog

Bonding with your Baby: Making the Most of the First Six Weeks It doesn’t matter whether you birthed your baby or received that blessing through adoption, it is amazing how many moms hold their newborn baby in their arms and then look up with that puzzled expression on their face and ask the question, now what? The good news is that moms often instinctually know what to do. Most of it is natural, and it comes out of a deep commitment to care and love for that fragile new creation.

Urinary Tract Infection – Causes, Symptoms, and Prevention

Contents What are the signs and symptoms of urinary tract infections? How do I know if I have a urinary tract infection (UTI)? What is the treatment for urinary tract infections? Urinary Tract Infection: Bladder Infection Home / Women's Health / Urinary Tract Infection: Bladder Infection A urinary tract infection (UTI) is a bacterial inflammation in the urinary tract.

Premenstrual Syndrome (PMS), American Pregnancy on PMS

Premenstrual Syndrome (PMS) & Premenstrual Dysphoric Disorder (PMDD) Home / Women's Health / Premenstrual Syndrome (PMS) & Premenstrual Dysphoric Disorder (PMDD) Approximately 85% of women who menstruate report changes in the days or weeks before their menstruation that cause problems that affect their normal lives.

Abnormal Pap Smear

Abnormal Pap Smear Women are encouraged to start getting yearly Pap smears at the age of 21 or within 3 years of becoming sexually active. Pap smears are not diagnostic tests, but they are screening tools used to find any abnormal cells or dysplasia in the cervix.

Donor Milk: Is It Safe?

Donor Milk Breastmilk is the prefect food for your baby, and the best breastmilk is your own. However, if you cannot provide breastmilk, donor milk may be available from your hospital or local milk bank.

Introducing the Bottle to Your Baby: Getting Started

Introducing the Bottle Once breastfeeding is going well, your baby can begin drinking your breast milk from a bottle. You should avoid feeding your baby with a bottle if there are any problems with nursing at your breast, because it can confuse your baby and increase the breastfeeding difficulties.

Tipped Uterus: Tilted Uterus

Tipped Uterus: Tilted Uterus The uterus is the hollow, pear-shaped organ where a developing fetus will grow. The uterus is normally in a straight vertical position.


Gonorrhea Gonorrhea is a bacterial infection that affects over 700,000 new individuals each year. The current number of cases is unknown. It is common for individuals infected to not have any symptoms.

Breastfeeding While Pregnant: Safety and Challenges

Breastfeeding While Pregnant Breastfeeding During Pregnancy: Safety and Challenges You may have just started adjusting to breastfeeding only to find out you are pregnant again.

Hepatitis B

Hepatitis B Hepatitis B is a viral infection that affects nearly 73,000 new individuals each year. Approximately 1,250,000 people in the United States are carriers of this disease.

Nutrition During Breastfeeding

Nutrition During Breastfeeding Home / Breastfeeding / Nutrition During Breastfeeding To Breastfeed or Not to Breastfeed? If you are expecting, you are probably giving some thought to how you will feed your bundle of joy once she enters the world.

Ovarian Cancer Resources

Contents What are clinical trials and how can I enroll in one? I’ve been diagnosed with ovarian cancer. Where can I find help & support? Ovarian Cancer Resources If you’ve been diagnosed with ovarian cancer, you probably have a lot of questions.