There are plans to add two more genetic disorders for screening for Wisconsin\u2019s newborn screening program. X-Linked Adrenoleukodystrophy (X-ALD) and Mucopolysaccharidosis Type 1 (MPS 1) will be part of newborn screenings on August 1st. <\/p>\n
Hospitals across Wisconsin routinely test for over 48 blood disorders, hearing loss, and critical congenital heart disease (CCHD). This comes after a recommendation from the U.S. Department of Health and a state review to have both genetic disorders included.<\/p>\n
Dr. Mei Baker, the director of Wisconsin\u2019s newborn screening program, says the screenings for newborns are safe. The tests can help determine what treatments may be needed for treating a genetic disorder early on.<\/p>\n
\u201cIn our newborn screening report, we have a disclaimer that screening negative means you have low risk, but the risk is not zero. You should assess further,\u201d Dr. Baker said. \u201cDon\u2019t simply say, \u2018Oh, my newborn screening is normal, I\u2019m good.\u2019 So it\u2019s very important. I think the more we understand, the more we can set up the appropriate expectation.\u201d<\/p>\n
X-ALD can damage the adrenal glands and the nervous system without proper treatment. MPS-1 can lead to hearing loss, damaged vision, and other developmental delays for newborns. Dr. Baker says stem cell therapy is the recommended treatment for both of these genetic disorders.<\/p>\n
\u201cWe really emphasize prevention. I think traditional medical practice is reactive. When you are sick, we treat you right. Our knowledge is increasing to allow us to understand the disease,\u201d Dr. Baker said.<\/p>\n
She added that advance treatments like gene therapy, bone marrow transplants, stem cells, and enzyme replacement are used for these disorders. Parents are advised to get their newborns screened between 24 and 48 hours after being born for X-ALD AND MPS Type 1. <\/p>\n
The sooner a genetic disorder is identified, the sooner treatment options can be implemented to help the infant\u2019s condition. Dr. Baker also reiterated that parents should not panic if the screening results are positive for X-ALD<\/a> or MPS Type-1.<\/a> She says a follow-up confirmation test is needed.<\/p>\n \u201cI really want the parents to understand that newborn screening is a risk assessment. So, just like every screening, I want them to take the screening results seriously\u2013but, on the other hand, do not panic yet until you have a consultation with your care physicians,\u201d Dr. Baker said. <\/p>\n She added that when your physician recommends a confirming test for X-ALD and MPS Type 1. Dr. Baker urges parents to do this follow-up screening as soon as possible.<\/p>\n In Wisconsin, newborn blood screenings are required by law in order to protect the health <\/a>of babies. Now a parent may refuse newborn blood screening testing for their infant if it\u2019s against religious beliefs, practices, or personal convictions.<\/p>\n