Skip to content

Genetics

Font Size

Newborn Screening

Shortly after birth, a blood sample is taken from a newborn to screen for diseases such as phenylketonuria (PKU) and congenital hypothyroidism. This type of testing is important, because treatment is available to improve the health of the child. Newborn screening is required in the United States, but states vary on which tests they offer.

Examples of tests used for newborn screening include:

  • Phenylketonuria (PKU) screen, which measures the amount of phenylalanine in a baby's blood. Babies found to have PKU should be put on a special low-protein diet to prevent intellectual disability.
  • Cystic fibrosis screening test, which measures levels of immunoreactive trypsinogen (IRT), a digestive enzyme, in a newborn's blood sample. Abnormally high levels of IRT suggest cystic fibrosis, although further testing is needed to confirm the diagnosis.
  • Hemoglobin test, which tests for types of hemoglobin in a baby's blood that may point to sickle cell trait or sickle cell disease. Babies who have sickle cell disease need special medical care throughout their lives.

Other tests, such as newborn hearing tests, can tell whether a baby may need future hearing services or genetic testing. Approximately 50 out of 100 cases of newborn hearing loss are caused by genetic factors.1

1

WebMD Medical Reference from Healthwise

Last Updated: March 12, 2014
This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.
Next Article:

Hot Topics

WebMD Video: Now Playing

Click here to wach video: Dirty Truth About Hand Washing

Which sex is the worst about washing up? Why is it so important? We’ve got the dirty truth on how and when to wash your hands.

Click here to watch video: Dirty Truth About Hand Washing

Popular Slideshows & Tools on WebMD

disciplining a boy
Types, symptoms, causes.
psoriasis
What it looks like.
No gym workout
Moves to help control blood sugar.
acupuncture needle on shoulder
10 tips to look and feel good.
Epinephrine Injection using Auto-Injector Syringe
Life-threatening triggers.
chest x-ray
7 early symptoms.
woman biting a big ice cube
Habits that wreck your teeth.
Breast Cancer Overview
Symptoms and treatments.
embarrassed woman
Do you feel guilty after eating?
pacemaker next to xray
Treatment options.
caregiver with parent
10 tips for daily life.
birth control pills
Which kind is right for you?

Women's Health Newsletter

Find out what women really need.