Newborn Screening –  What’s good to know?

What does newborn screening mean? Newborn screening for congenital metabolic and hormonal disorder s is a very successful preventive measure in childhood . Newborn s have been screened for phenylketonuria since the 1960s, and for hypothyroidism and galactosaemia since the 1980s. In 2004, screening was extended to twelve target diseases. It was then expanded to include cystic fibrosis from 2016 and tyrosinaemia type I in 2018. Recently, severe combined immunodeficiencies were added in 2019.

Around one in every 1,000 children is diagnosed with one of the diseases described above. If undetected, these diseases can lead to life-threatening metabolic crises, organ damage, physical or mental disabilities, or even death. Newborn screening allows for immediate, targeted treatment as soon as possible after birth. This can prevent disabilities and even death. All aspects of newborn screening are regulated in a guideline for all laboratories published by the Federal Joint Committee of Doctors and Health Insurance Funds (April 2005).

The aim of screening is to detect all affected newborns as early as possible. The guidelines ensure that only a tiny number of families of healthy children are worried by false-positive findings. To achieve this, a standardized procedure with defined responsibilities is paramount.

Who is responsible for newborn screening? The clinic (service provider) which was responsible for the birth of the child is responsible for carrying out the newborn screening. The parents must be informed about the screening, usually by a doctor, in accordance with the requirements of the Genetic Diagnostics Law. The parents have to give their written consent . The results of the test are protected by medical confidentiality and may not be passed on to third parties without parental consent.

When is the best time to take the blood sample? The blood sample should be taken on the 2nd–3rd day of postnatal life (36th–72nd hours after birth). Newborn screening from a blood sample taken from the 36th hour of life is sufficient and, if carried out correctly, does not need to be repeated if results were within the normal range. If the blood sample was taken before the end of the 36th hour of life, you will then automatically receive a reminder to send in a second test card with the first result. It is therefore advisable to wait until the end of the 36th hour of life if your child is being discharged early. In the case of early-discharge children, or premature babies from whom the first sample was taken before the 32nd week of pregnancy, a follow-up test is mandatory after 36 hours of life or at 32 weeks of pregnancy.

What technique must be followed when taking and sending blood samples? Native, capillary heel blood or venous blood should be collected between the 36th and 72nd hour of life and drip ped directly onto a special filter paper card, dried, and sent directly to a screening laboratory.

No EDTA or lithium heparin blood may be used, as these additive s could interfere with the analyses. If possible, all circles, but at least four, must be completely saturated with blood. The air-dried filter paper cards must be sent to the laboratory on the day of blood collection. Collecting the cards over several days is not permitted. Under no circumstances should the filter paper cards be exposed to high temperatures (e. g., during the transport), as this can destroy enzymes and may lead to false results.

If the child has not fed in age-appropriate quantities by the time the blood sample is taken, this must be indicated on the test card.

How to deal with a positive result? A positive screening result (recall) is a suspected diagnosis and has to be investigated further immediately. Depending on the severity of the positive finding and the suspected diagnosis, repeat screening or direct clarification at a specialist center is highly recommended.

EXERCISE:

1. When taking a blood sample from the newborn, one can use EDTA or lithium heparin blood, this should work very well. A) True B) False

2. Who exactly is responsible for newborn screening? A) Clinic B) Parents C) Gynecologist D) Service provider E) Grandparents

3. In the case of early-discharge children or premature babies from whom the first sample was taken before the 32 nd week of pregnancy, a follow-up test is mandatory after 36 hours of life or at 32 weeks of pregnancy. A) True B) False

You’ll find the answer below.

BIBLIOGRAPHY 1. www.cdc.gov 2. www.dict.cc 3. www.nhs.uk 4. www.webster-dictionary.org 5. https://www.screening-dgns.de 6. https://www2.medizin.uni-greifswald.de

CARMEN LOBITZ Carmen Lobitz ist freie Trainerin, Lehrerin und MTL. Sie gründete 1998 in Berlin lobitz seminare, die unter anderem Englischseminare für Health Professionals anbieten. Kontakt: mail@lobitz-seminare.de www.lobitz-seminare.de

###more###

Lösung für Exercise:

1. B

2. A und D

3. A

Newborn Screening –  What’s good to know?

What does newborn screening mean?

Online-Angebot der MT im Dialog

Stellen- und Rubrikenmarkt

Newborn Screening – What’s good to know?

What does newborn screening mean?

Sie wollen den ganzen Text lesen?

Online-Angebot der MT im Dialog

Stellen- und Rubrikenmarkt

Newborn Screening –  What’s good to know?