Newborn screening

Question

Hello,

we have three children. Our daughter, 10 years old, has CF (delta F-508-unknown), our sandwich child is healthy and our youngest child was born in July 2009. In his case a newborn screening also looking for CF was done. Since we have not heard anything from the clinic by now we are wondering how safe the screening is, or rather, can we assume that everything is okay? (is one informed as well if only one value is not okay?)

Thank you for your efforts.
Best regards,

Answer

Hello,

Currently, there is no countrywide standardised newborn screening for CF in Germany. Instead, CF newborn screening is available regionally following different protocols. Therefore, it is not possible to give a universally valid answer regarding a possible false-negative rate, i.e. about the probability that the test was negative (negative in this context means: no CF) although the baby does have CF in fact.

Probably, in your case a so called IRT (immunoreactive trypsin) test was done at the start; and if the value did not exceed a certain limit, which means was negative, no further test were done. In any case you would have been informed about a positive result. With a negative screening result chances that your child has CF are very small but the probability also depends on the protocol followed. Only the screening lab can give you more detailed information about the probability.

Best regards,
Prof. Stuhrmann-Spangenberg

23.01.2010