FAQs
If you have any further questions, please do not hesitate to contact us personally.
The target group of the Baby Health Check is all newborns. However, Baby Health Check should also be performed in healthy children as a screening examination, in case of a positive family history and in symptomatic children with a suspected diagnosis. Only where screening, rare diseases can be detected and treated at an early stage.
A few drops of blood are obtained by a small prick in the heel or by venous blood sampling and applied to a filter paper card. This card is then sent to the ARCHIMEDlife Medical Laboratory in Vienna. There, the blood sample is analyzed for certain proteins and metabolic products. The blood sample should be taken between the 36 and 72 hours after birth. If the parents leave the hospital before this time, the blood sample is taken earlier and a recommendation is made to have a check-up carried out by a pediatrician or family doctor within the recommended period. If the baby is delivered at home, the midwife will take the blood sample and send in the card. Symptomatic children or in special situations such as before a blood transfusion etc. should be tested earlier.
The list of target diseases can be found here. The BHC program has the advantage that the screening panel can be rapidly adapted as needed. We have made it our mission to expand the BHC screening to include additional rare diseases as new, promising therapies emerge.
There are several points of contact where the Baby Health Check Program can be performed. On the one hand, blood sampling can be done in birthing clinics or by pediatricians, or by a midwife in the case of home births or early discharge, or by a nurse in the newborn room. in the newborn room. Also, the physician who does the child checkups can take the blood sample and send it in.
The status of the specimen, from arrival at the laboratory to the test result, can only be by the physician via the ARCHIMEDlife web portal. As soon as the physician has received the received the medical test result, he/she will contact the parents to discuss the result. to discuss the results. The test result will be communicated in any case after 7-10 days.
If the diagnosis is confirmed, therapy is started immediately. Depending on the disease, this can take place in special departments, such as metabolic centers, but also in many children’s hospitals or pediatricians. many children’s hospitals or at pediatricians’ offices.
Although there is no cure for inborn errors of metabolism, early treatment can in most however, in most cases, early treatment can prevent or significantly alleviate the late can be avoided or significantly alleviated.
A special feature of the BHC-NBS screening is that we also perform the confirmation the same blood sample for confirmation diagnostics. This avoids the transmission of false-positive results can be avoided, and the time span from collection to possible diagnosis can be drastically shortened. Repeated blood sampling for recall and additional examinations are also not necessary. Highest sensitivity and specificity is our top priority.
The BHC program includes laboratory diagnostic tests of the highest quality and are quality and are strictly monitored. In general, however, it is in the nature of congenital metabolic metabolic diseases that in a very small number of cases (usually less than 0.1%) the laboratory laboratory testing may not yield a positive result. Important: If the child is clinically conspicuous, then further clarification should be carried out by a specialist.
No, as this is a screening examination. A child with specific symptoms and a negative BHC screening must be referred to a specialist for further clarification. If SMA or MPS is suspected, genetic confirmation diagnostics from the same DBS card is possible and included free of charge.
Yes, as well as children with “nonspecific symptoms” such as delayed developmental milestone, failure to thrive, hepatosplenomegaly, or frequent infections should be be investigated. At the beginning and with mild symptoms, these children can be easily and quickly “checked through”.
