Optional Neonatal Screening

What is a newborn hearing test?

In recent years, painless and safe methods to test the hearing of newborns are available to us, such as otoacoustic emissions. The method of otoacoustic emissions allows hearing to be checked already in the first days after birth. This specific examination is carried out as a mandatory routine examination for all newborns in the major centers of the USA and Western Europe, but also in all public and most private hospitals in Greece, in accordance with the recommendations of the World Health Organization and the Global Foundation for Children with Hearing Loss.

How is the hearing test carried out?

The method that is applied, which is called "recording of otoacoustic emissions", is a painless, reliable and brief method, performed only by specialized otorhinolaryngologists with special equipment and cannot be replaced by a simple pediatric assessment. During the examination, a speaker is placed in the newborn's ear, which sends specially designed sounds to the inner ear (cochlea). The sounds cause stimulation of the cochlear cells, which produce a special signal that is recorded and analyzed. Results are obtained instantly.

Should the hearing test be performed in all newborns?

Normal hearing from the first months of life is a basic condition for the understanding and development of speech. If a baby has a hearing problem, then the normal course of his/her speech and language development is significantly disturbed, affecting not only his/her socialization, but also, at a later time, his/her school performance. The early diagnosis of the problem is of great importance, as it can now be medically treated, ensuring that the child has a normal development.

What is screened during the newborn eye examination?

Any anatomical abnormalities of the eyeball, opacities of the ocular media (cornea, lens) and the fundus of the eye are checked. But mainly, through this examination, serious conditions can be ruled out, whose early diagnosis and treatment are decisive for maintaining the newborn’s good vision. Indicatively, defect such as congenital cataract, congenital aniridia, persistent hyperplastic primary vitreous, congenital glaucoma etc. can be identified.

How is the eye test performed?

A necessary condition for the ophthalmologic examination is mydriasis. This can be achieved by instillation of eye drops 30 minutes prior to the examination. The examination is performed at the newborn’s crib, by a specialized ophthalmologist, with special equipment. It is painless and lasts for just a few minutes.

Can I know if my baby is able to see?

Sight is a sense that develops after birth and a necessary condition for its proper development is to ensure that light reaches the posterior part of the eyeball. What is being tested is whether there is any factor preventing light from reaching the retina. The examination cannot fully diagnose the functional state of the eye, as it also depends on other factors that can disrupt it after birth and during the child's life, until the maturation of the visual system.

What is checked during the newborn’s orthopedic examination?

All joints of the newborn's arms and legs, as well as the spine, are carefully checked and examined. The purpose of the screening is the early detection and treatment of various orthopedic problems that exist since birth and may be hereditary or due to the poor intrauterine position of the fetus. Conditions such as clubfoot and developmental dysplasia of the hip are recognized and treated immediately, minimizing the chances of future surgery due to neglected recognition of the problem at birth. In particular, the newborn's hips are examined by using special tests and the screening is completed with an ultrasound examination of the hips.

In which newborns is the ultrasound screening of the hips performed and which condition is checked?

In many European countries, hip ultrasound is performed in all newborns as the only screening method which identifies hip dysplasia early and validly. Developmental dysplasia of the hip (DDH) is the most common congenital condition of the musculoskeletal system that is found in newborns, from the first moment of their birth. The condition cannot be diagnosed in utero nor can it be 100% clinically certified. Therefore, the ultrasound examination of the hips complements the clinical examination. The examination of the hips via ultrasound has a high diagnostic reliability, it identifies cases of mild dysplasia that would escape the clinical examination and does not subject the newborn to radiation.

Why is early diagnosis of hip dysplasia important?

The early diagnosis of a pathological condition of the hip is of great importance, both for the type of treatment that will be chosen, and for the outcome of the treatment. Neglected cases will need surgical treatment, while if the diagnosis is made in time, the condition can be treated conservatively with special splints.

What is Metabolic Disorder Screening and why is it useful?

This test is a blood test, which is based on Tandem MS (mass spectrometry) technology and allows the rapid detection of many metabolic disorders. It contributes to the early diagnosis of pre-symptomatic newborns and therefore to rapid treatment and therapy. In addition, it detects disease carriers, who will never manifest the disease, but can transmit it to their offspring. The above information is of great value, as family history alone is not a reliable means of screening for the discovery of hereditary diseases.

How and when is the sample taken?

At the age of 2-3 days, before leaving the clinic, we take a few drops of blood from the newborn's heel on a special card, the Guthrie card. The collection is done at the same time as the blood collection for the usual screening of 4 metabolic disorders (phenylketonuria, congenital hypothyroidism, galactosemia and G6PD deficiency), which is carried out for the respective national screening program. In premature newborns, the examination time is the same, as the aim is to test the newborn as soon as possible.

Is there a chance that the exam will need to be repeated?

Reexamination is rarely needed, in the following cases:

• if the sample is unsuitable
• if the result is inconclusive

In this case you will be notified as soon as possible, so that a new sample is taken.



What diseases or groups of conditions does it detect?

The program detects more than 40 conditions, such as:

• Endocrine disorders (e.g., congenital adrenal hyperplasia)
• Amino acid disorders, organic acidurias, fatty acid oxidation disorders, biotinidase deficiency
• Fibrocystic disease
• Sickle Cell Anemia (hemoglobin diseases)

In case of suspicion, the definitive diagnosis is made after additional special tests.