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We hear about adults and children having health tests and different diagnoses but what about babies? New born babies generally have a blood test (called a PKU test) up to 48 hours after they born. It involves pricking the baby’s heel and collecting just a small amount of blood. Only a few drops. It is usually then sent to a scientific laboratory to test for various disorders or health conditions that may stop normal development for a baby. Life threatening illnesses, intellectual delays and physical disabilities, which may even occur later down the track, can all be detected in a screening like this, even if the baby seems healthy.

 Your baby may have to have the blood tests repeated and this usually happens if the first test was performed on the newborn within 24 hours of birth. Additional test can be done after this if the test results show as being abnormal as the correct results need to be confirmed. Parents will always be informed of retests in the space of these few days if these extra tests are necessary. 

Baby tests at Home:-

Newborn screening tests have slight variations in every state but by law each state MUST screen for 21 specific disorders. Your state may screen for 30 conditions or more and you should ask about the extra or "supplemental" screening if you are living in a state that only tests for the minimum of 21.  Health Resources and Services Administration (HRSA) actually recommends screening for 29 specific conditions including cystic fibrosis, phenylketonuria (PKU), sickle cell disease, hearing loss, critical congenital heart disease and others. This is to try and make testing of newborns in the United States the same in all health departments and make the testing way more thorough.

There are three segments to screening a newborn. A pulse oximetry test to detect the baby's blood levels of oxygen, a heel stick test will collect a small blood sample and a hearing screen. The recommendations include a test for hearing loss in newborns. The hearing test for babies is done by putting a small instrument or soft earphone in the baby's ear to test their hearing capabilities.

You will be informed by your medical team what is involved in a PKU test. It is what is best for your precious baby but find below the newborn test list:-

  • Amino Acid Disorders
  • Argininemia (ARG)
  • Argininosuccinic Aciduria (ASA)
  • Benign Hyperphenylalaninemia (H-PHE)
  • State preferred name: hyperphenylalaninemia
  • State preferred name: citrullinemia
  • State preferred name: phenylketonuria
  • State preferred name: congenital hypothyroidism
  • State preferred name: carnitine uptake deficiency
  • State preferred name: long chain hydroxy acyl-CoA dehydrogenase deficiency
  • State preferred name: 2-methylbutyryl-CoA dehydrogenase deficiency
  • State preferred name: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • State preferred name: multiple carboxylase deficiency
  • State preferred name: isobutyryl-CoA dehydrogenase deficiency
  • State preferred name: methylmalonic acidemia
  • State preferred name: PA
  • State preferred name: galactosemia
  • Citrullinemia, Type I (CIT)
  • Classic Phenylketonuria (PKU)
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Maple Syrup Urine Disease (MSUD)
  • Tyrosinemia, Type I (TYR I)
  • Tyrosinemia, Type II (TYR II)
  • Tyrosinemia, Type III (TYR III)

·         Endocrine Disorders

  • Congenital Adrenal Hyperplasia (CAH)
  • Primary Congenital Hypothyroidism (CH)

·         Fatty Acid Oxidation Disorders

  • Carnitine Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Palmitoyltransferase Type II Deficiency (CPT-II)
  • Carnitine Uptake Defect (CUD)
  • Glutaric Acidemia, Type II (GA-2)
  • Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
  • Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Trifunctional Protein Deficiency (TFP)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

·         Hemoglobin Disorders

  • Hemoglobinopathies (Var Hb)
  • S, Beta-Thalassemia (Hb S/ßTh)
  • S, C Disease (Hb S/C)
  • Sickle Cell Anemia (Hb SS)

·         Organic Acid Conditions

  • 2-Methylbutyrylglycinuria (2MBG)
  • 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
  • Beta-Ketothiolase Deficiency (BKT)
  • Glutaric Acidemia, Type I (GA-1)
  • Holocarboxylase Synthetase Deficiency (MCD)
  • Isobutyrylglycinuria (IBG)
  • Isovaleric Acidemia (IVA)
  • Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B)
  • Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT)
  • Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
  • Propionic Acidemia (PROP)

·         Other Disorders

  • Biotinidase Deficiency (BIOT)
  • Classic Galactosemia (GALT)
  • Cystic Fibrosis (CF)
  • Hearing loss (HEAR)
  • Severe Combined Immunodeficiency (SCID)



Baby Home Test Kits

Genetic, developmental and metabolic disorders are all checked for in a newborn screening test on all newborn babies and have slight variations in each state. Most states require three to eight tests and test for around 40 diseases or disorders. These tests help detect any problems early so they may be treated and before symptoms may develop.

Phone contacts for your state: National Newborn Screening and Global Resource Center: www.genes-r-us.uthscsa.edu

The importance of Newborn Screening: www.cdc.gov

Types of testing: www.americanpregnancy.org

How to collect Urine for a test for your baby: U.S. National Library of Medicine: www.nlm.nih.gov