Neonatal Testing

It is important to know that most babies are born perfectly healthy.  However, occasionally a very small number of newborns might suffer a disorder and/or illness that are not obvious through routine antenatal screening processes, or even immediately at birth. The aim of routine screening tests offered to parents and their baby(s) is to help health care professionals diagnose and/or treat the baby before problems arise. Newborn screening is free in Australia and is completely voluntary.  Your Doctor, Midwife or Paediatrician must ask you if you want your baby to be tested.

The first screening test done on delivery of your baby is that of the APGAR SCORE.  Your Midwife, Paediatrician or your Obstetrician will attend this. Your baby is scored at 1 minute of age and again at 5 minutes of age.  A score of 0 – 2 is given for each of your baby’s;  heart rate, respiratory rate, tone, reflexes and the colour of their skin.  A score of 7 – 9 is common.  If your baby’s score is under this than resuscitation – in various forms depending on the immediate condition of your baby – will be initiated.

Once your baby is over 48 hours old a midwife will attend a HEEL PRICK TEST. Parents will need to sign (the card that the blood is collected on) giving their permission for the test to occur.   It takes approximately 2 weeks for the results to be available.  Your baby’s blood is taken from your baby’s heel – similar to that of an adult having a blood sugar test.  The blood is collected on special filtered paper and sent to the newborn screening laboratory.

Detected through the neonatal heel prick test, but not inclusive, are 4 rare but serious genetic disorders; 1. Phenylketonuria (PKU), 2. Galactosaemia:  3. Congenital Hypothyroidism (these if detected early, following a special diet can prevent health problems), and 4. Cystic Fibrosis (CF). Other conditions that can also be identified include several conditions affecting the breakdown of fats (fatty acid oxygenation defects) and proteins (amino acid metabolism disorders).  If a problem is detected the parents will be contacted for further testing – as those baby’s diagnosed with these conditions will require specialized follow-up.

Whether you deliver in the private of public health care system, a Paediatrician will also check your baby within 24 hours of delivery. This NEONATAL EXAMINATION is

extensive: checking everything from your baby’s spine, respiratory, cardiac, palate, limbs, eyes, abdomen, fontanelle’s & sutures, reflexes, genitalia and hips. Developmental Dysplasia of the Hip (DDH) affects one in every 700 babies. Higher risks of DDH is associated with where there is a family history of DDH.  The hips are generally rechecked by your health care professional at 6 weeks.  Heart problems, including congenital heart disease are also checked at birth and again at 6 weeks of age.  It is essential that you follow up with your doctor.

A HEALTHY HEARING SCREEN is also offered to all babies after birth prior to  leaving the hospital. It is preferable that your baby is asleep and has had its first bath.  The test is performed by placing a few electrodes on the baby’s head to measure the auditory (or hearing nerve firing) in response to a variety of sounds that are presented to the baby through small earphones. The Audiologist presents different pitches or frequencies of sound and different loudness or intensity, to determination the softest levels at which the baby’s hearing system responds. The test is extremely reliable in detecting mild, moderate, severe and profound hearing losses, regardless of the cause. It is important to identify a hearing loss as soon as possible after birth to give your baby the best chance of normal speech and language development. Results from the hearing test are available immediately following the test.

The above blog is only touching the surface of many neonatal screening.  With all testing, please ask your chosen health care professional any questions or concerns you may have.


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