US experts urge more neonatal screening for genetic disorders
http://www.100md.com
《英国医生杂志》
All newborn babies in the United States should be screened at birth for 30 detectable and treatable disorders, says a report of the American College of Medical Genetics. Babies should also be screened for 25 other disorders that are not now treatable but that may be in the future, making it important for their parents and doctors to know about.
Tandem mass spectrometry from a blood spot from the baby抯 heel makes it possible to screen for many disorders. Examining the blood spot can show abnormal concentrations of amino acids and fatty acids.
Currently regulations on testing of newborn babies vary widely among the states, and screening is universal only for phenylketonuria, congenital hypothyroidism, and galactosaemia, said Dr Michael Watson of the American College of Medical Genetics, who presented the report at a meeting on 22 September. He said the United States needed to have standardised rules for testing.
Other conditions often screened for are sickle cell anaemia, congenital adrenal hyperplasia, and hearing loss, but the rules vary from state to state.
Some conditions, such as galactosaemia, which results in intolerance to dairy products including breast milk, are emergencies. Other conditions, such as phenylketonuria, call for long term dietary changes.
The college抯 report was presented to the Maternal and Child Health Bureau of the US Health Resources and Services Administration, part of the federal Department of Health and Human Services. Its findings were supported by the March of Dimes charity, which works to prevent birth defects and improve the health of babies.
"New treatments, new information, new technologies are becoming available," said Michelle Kling, a spokeswoman for March of Dimes. "In the next decade DNA microarrays will detect up to 1000 disorders with one blood spot." The March of Dimes guidelines on neonatal screening are accessible at www.modimes.org
The recommendations have been sent to Tommy Thompson, the secretary of health and human services, and should soon be posted on the Health Resources and Services Administration抯 website and published in Pediatrics.
Advocates of screening hope that the secretary will recommend greater screening and will use the administration抯 pressure to get states to adopt uniform standards for screening. However, that is unlikely to occur before next month抯 election.(New York Janice Hopkins T)
Tandem mass spectrometry from a blood spot from the baby抯 heel makes it possible to screen for many disorders. Examining the blood spot can show abnormal concentrations of amino acids and fatty acids.
Currently regulations on testing of newborn babies vary widely among the states, and screening is universal only for phenylketonuria, congenital hypothyroidism, and galactosaemia, said Dr Michael Watson of the American College of Medical Genetics, who presented the report at a meeting on 22 September. He said the United States needed to have standardised rules for testing.
Other conditions often screened for are sickle cell anaemia, congenital adrenal hyperplasia, and hearing loss, but the rules vary from state to state.
Some conditions, such as galactosaemia, which results in intolerance to dairy products including breast milk, are emergencies. Other conditions, such as phenylketonuria, call for long term dietary changes.
The college抯 report was presented to the Maternal and Child Health Bureau of the US Health Resources and Services Administration, part of the federal Department of Health and Human Services. Its findings were supported by the March of Dimes charity, which works to prevent birth defects and improve the health of babies.
"New treatments, new information, new technologies are becoming available," said Michelle Kling, a spokeswoman for March of Dimes. "In the next decade DNA microarrays will detect up to 1000 disorders with one blood spot." The March of Dimes guidelines on neonatal screening are accessible at www.modimes.org
The recommendations have been sent to Tommy Thompson, the secretary of health and human services, and should soon be posted on the Health Resources and Services Administration抯 website and published in Pediatrics.
Advocates of screening hope that the secretary will recommend greater screening and will use the administration抯 pressure to get states to adopt uniform standards for screening. However, that is unlikely to occur before next month抯 election.(New York Janice Hopkins T)