Newborn Screening Experience
We were blessed with the birth of our 3rd grandson on Jan. 20, 2002. This gave us another opportunity to observe the process of newborn screening. If our grandson had been at high risk, we would have had him checked through the Clinic For Special Children in Pennsylvania at 24 hrs. of birth or sent a blood test immediately after birth to the lab in Columbia, Missouri for DNA testing. With either of these tests, results are available the next day - at two to three days of age. Instead, we made sure he was tested for 30 diseases by Neo Gen Screening in Pittsburgh, Pennsylvania as well as through our Indiana state screening program which includes MSUD.
One and one half years ago when our granddaughter was born, it took five days for the blood sample to reach the laboratory in Indianapolis. This time, with our grandson, blood was taken and sent to the state lab via mail from our local hospital two days after birth. The state received it 6 days later. Both times the test results were available from the state lab the following day. They assured me that a positive result would be faxed immediately to the doctor. However, since both grandchildren's tests were negative, they were mailed to the local hospital where the doctor picks them up when he makes his rounds and the results are then reported to the parents. Our son and his wife received our granddaughters report two weeks after birth and our grandson's lab report four weeks after birth. The most important is the return time for a positive test - possibly the earliest for our grandson would have been at 8 days of age. Is this acceptable?
Blood was taken from our newborn grandson for the Neo Gen screening test on the third day. (The instructions say the "ideal time to take the blood is between 24-48 hours of age, as close to 48 hours as possible.") We sent the sample via FedEx the same day it was taken. Neo Gen received it the following day, and the results were available the 5th day. However, the instructions say, "Abnormal results are available 3 working days after the receipt of the sample and are called directly to your physician. Normal results are mailed to your physician. It may take 2 weeks for them to receive the mailed results." If we had sent the specimens via mail as instructed by Neo Gen, the results would have been delayed several days.
Recently, near Philadelphia, parents were notified when their son was 10 days of age that he had MSUD. This child was detected through the Pennsylvania state screening program. This time frame seems to be typical of current screening programs. Although certainly better than no screening, this turn around time issue needs to be addressed. Is the big issue the cost of overnighting specimens? How does that cost compare with the risk of brain damage caused by several days of delay?