Washington State Newborn Screening Statistics/Bulletin

2009 Statistics

2^nd Quarter	2009	General
21,294	41,154	Hospital Births*
43,127	83,292	Specimens Tested (most infants have two newborn screens performed)
2^nd Quarter	2009	Infants Diagnosed
2	3	Amino Acid disorders^�
0	0	Biotinidase Deficiency
2	3	Congenital Adrenal Hyperplasia
25	41	Congenital Hypothyroidism
4	6	Cystic Fibrosis
2	4	Fatty Acid Oxidation disorders^�
0	0	Galactosemia
2	2	Organic Acid disorders^�
5	6	Sickle Cell Disease and Other Clinically Significant Hemoglobinopathies
42	65	All Dried Blood Tests Combined
31	37	Early Hearing Loss**
73	102	All Disorders Combined
* Excludes babies born in birthing centers or at home
� 2 Phenylketonuria (PKU), no other disorders detected
� 2 Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, no other disorders detected
� 2 Glutaric acidemia type 1 (GA-1), plus two children with a condition not on the screening panel (3-MCC), no other disorders detected
** Current numbers underestimate the actual number of infants with hearing loss born during this time. Hearing loss may not be detected until the infant is older (the national goal is for infants to be diagnosed by three months of age).

A baby with VLCAD deficiency (a life-threatening fatty acid oxidation disorder) was identified by newborn screening in May of this year. The first screening specimen had abnormal results for this condition. The second specimen (collected at 10 days of age) had normal results. VLCAD deficiency, like many of the other disorders that have recently been added to the newborn screening panel can be life-threatening in the first one to two weeks of life. However, by five days of age an affected infant may have normal screening results for a fatty acid oxidation disorder (once a baby is on regular scheduled feedings). This means an infant with a life-threatening condition could be missed.

It has therefore become more imperative to collect the first newborn screen earlier than previously recommended. Although it is acceptable to obtain the initial blood specimen any time before five days, the ideal time of collection is when the baby is between 24 and 48 hours of age. It is still important to collect a second screen, ideally at 7 � 14 days. This second screen can detect other disorders that have abnormal results later.

The practice of forgoing an early screen with the intent to collect it at a later date is dangerous, placing the child at significant risk of permanent damage or possibly death. This was the case for a baby born in Washington last year who died of maple syrup urine disease (MSUD) at 12 days of age because he didn�t get his newborn screening specimen collected until 10 days of age. Therefore, refusals of the first screen should not be accepted for any reason, except as allowed by law � � on the grounds that such tests conflict with religious tenets and practices�. If a parent does refuse, the risk of not testing should be made very clear and properly documented.

Many health care providers are under the impression that newborns must receive milk feedings prior to obtaining the first blood specimen for valid results. This has been shown to be untrue. Even extremely early specimens will detect most, although not all, affected infants.

We ask that you share this information with staff at your facility. If you have any questions, please call our office at (206) 418-5410. Thank you.

On October 8, 2008 the Newborn Screening program presented statistical data and summary handouts for the years 2005 and 2006 with preliminary data for 2007.