Dr Vijay Kumar

Screening Tests For Newborn Children

Catagory: NICU Author: Dr T.V Vijay Kumar


Early detection of critical but uncommon health disorders is made possible through newborn  screening. In the United States, newborn screening is provided to every baby. Which exams are  necessary are decided by each state. Results from neonatal screening tests are often normal. Your  infant will have a diagnostic test, which is a separate sort of test, if a result is not normal. Early  detection of health issues through neonatal screening frequently results in successful treatment. Early intervention is crucial since it might shield your child from more serious health issues. 

What is neonatal screening? 

Your kid will undergo newborn screening when he is one to two days old. At delivery, a newborn is  screened for dangerous but uncommon and usually curable medical disorders. It involves tests for  the heart, hearing, and blood. 

Your child may have a health ailment at birth even if they may not initially exhibit any symptoms of  it. With newborn screening, it is frequently possible to address a medical issue if it is discovered  early. Early intervention is crucial since it might shield your child from more serious health issues. 

In the United States, newborn screening is provided to every baby. Every year, almost 4 million  newborns get screening. 

When is foetal screening performed? 

When your baby is one to two days old after delivery, she receives newborn screening before she  leaves the hospital. Ask your baby’s doctor about newborn screening when she is 1 to 2 days old if  she wasn’t delivered in a hospital. In other areas, newborn screening must be repeated one to two  weeks later. 

What is the process of neonatal screening? 

Newborn screening is divided into three sections: 

a blood test The majority of newborn screenings use a blood test to look for uncommon but  dangerous medical disorders. Your baby’s heel is pricked by a medical professional to get a few  droplets of blood. He draws the blood onto a particular piece of paper and sends it to a laboratory  for analysis. By the time your kid is 5 to 7 days old, the results of a blood test are often available. Ask  your baby’s doctor or the hospital staff for further information about the timelines for shipping  blood samples to the lab and receiving test results back.

hearing examination. Hearing loss is tested for using this test. Your infant will wear small  headphones throughout this test, and a sophisticated computer will be used to monitor how your  baby reacts to sound. 

heart examination. This examination is performed on newborns to check for a class of cardiac  diseases known as serious congenital heart abnormalities (also called critical CHDs or CCHDs). It  makes use of a quick test known as pulse oximetry. Using a pulse oximeter device and sensors  applied to your baby’s skin, pulse oximetry measures the quantity of oxygen in your baby’s blood. 

What if the findings of the newborn screening are abnormal? 

Results of neonatal screenings are often normal. If your child’s screening findings are abnormal, she  may just require more testing. A diagnostic test is then suggested by your baby’s doctor to  determine whether a health issue exists. Additional testing is not required if the diagnostic test  findings are normal. Your provider can advise you on the following actions for your infant if the  findings of the diagnostic test are not normal. 

Will all of your children have the same health issues if one of them does? 

When newborns are screened, many health issues are discovered that run in families. Something  that is inherited is something that is genetically given from parent to kid. Cells in your body include  genes, which provide instructions for how your body develops and functions. 

The likelihood of a brother or sister developing the same illness is greater when one kid in the family  has the ailment than if there are no affected family members. 

Consult your doctor or a genetic counsellor if you wish to become pregnant and have a kid with a  medical issue. A genetic counsellor is someone who has received training to assist you in  understanding genes, birth abnormalities, and other illnesses that run in families, as well as how  they can influence your health and the health of your unborn child. 

Not all cases of hearing loss are hereditary. For instance, a pregnancy-related illness may be the  culprit. It often doesn’t occur throughout another pregnancy, as it did in this case. 

What sorts of medical issues are checked for during newborn screening? 

So be sure to ask your baby’s doctor about the specific tests your child will undergo as each state has  different requirements. To find out what conditions your state tests for, you may also go to  babysfirsttest.org. 

March of Dimes collaborates with states to guarantee that they are screening infants for the  ailments advised by the Department of Health and Human Services (also called HHS). RUSP, or  Recommended Uniform Screening Panel, is the name of the HHS-recommended list of medical issues. All newborns should be checked for at least 35 health issues, according to the March of  Dimes. If detected early, many of these medical disorders are treatable. Six groups comprise the  many health issues: 

Abnormalities of the organic acid metabolism. Metabolism is the efficiency and speed with which  your body breaks down food and liquids. Due to improper food digestion in babies with problems of  the organic acid metabolism, the body accumulates chemicals referred to as organic acids. 

  • Hypopropionate acidemia (PROP) 
  • Lack of methylmalonyl-CoA mutase causes methylmalonic acidemia (MUT) 
  • Metabolic acidosis (cobalamin disorders) Isovaleric acidemia (Cbl A, B) (IVA) 
  • A lack of 3-methylcrotonyl-CoA carboxylase (3-MCC) 
  • Aciduria from 3-hydroxy-3-methylglutaric acid (HMG) 
  • A lack of holocarboxylase synthase (MCD) 
  • Lack of beta-ketothiolase (BKT) 
  • Type 1 glutaric acidemia (GA-1) 
  • Disorders of fatty acid oxidation. The body converts fat into fatty acids during digestion to provide  energy. Fatty acid oxidation issues prevent a newborn from correctly converting fat to energy. 
  • Defects in the absorption and transportation of carnitine (CUD) 
  • Lack of medium-chain acyl-CoA dehydrogenase (MCAD) 
  • A lack of very long-chain acyl-CoA dehydrogenase (VLCAD) 
  • A lack of long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) 
  • A lack of trifunctional proteins (TFP) abnormalities of amino acid metabolism. Babies with these issues can’t effectively digest some  amino acids in their bodies. Protein synthesis in the body is aided by amino acids. 
  • Auria of argininosuccinic acid (ASA) 
  • Type 1 citrullinemia (CIT) 
  • Infection with maple syrup urine (MSUD) 
  • Homocystinuria (HCY) 
  • Phenylketonuria type I (PKU) 
  • Idiopathic tyrosinemia (TYR I) endocrine problems The glands that produce hormones are impacted by these issues. The body  produces substances called hormones. Hormones aid in a variety of bodily functions, including  growth and development. 
  • Congenital primary hypothyroidism (CH)
  • Adrenal hyperplasia that is congenital (CAH) abnormalities of the haemoglobin. Red blood cells are impacted by these issues and carry oxygen  throughout the body. 
  • Sickle cell disease (S,S illness) (Hb SS) 
  • Hb S/ßTh, beta-thalassemia S 
  • Hb S/C disease (S, C) 
  • Other illnesses 
  • inadequate biotinidase production (BIOT) 
  • a serious congenital cardiac condition (CCHD) 
  • Dysplastic fibrosis (CF) 
  • Traditional galactosemia (GALT) 
  • Pompe disease, a type II glycogen storage disorder (POMPE) 
  • loss of hearing (HEAR) 
  • severely compromised immune system (SCID) 
  • Type 1 mucopolysaccharidosis (MPS I) 
  • Adrenoleukodystrophy with the X gene 
  • Spinal muscular atrophy brought on by homozygous SMN1 exon 7 deletion