Archive for the 'Newborn Screening and Genetics' category

Newborn Screening: This Tiny Test is a Big Job That’s Always Improving

Jan 12 2015 :: Published in Newborn Screening and Genetics

By Scott J. Becker, executive director, APHL

Newborn screening saves or improves lives – 12,000 each year, to be specific. Every year over four million babies born in the United States have their heels pricked during the first days of life to check for certain devastating conditions that are not otherwise apparent at birth. The small number of babies who test positive for those conditions may suffer serious and irreversible damage without early detection. Newborn screening enables health professionals to identify and, in most cases, treat those babies allowing them to grow up to live healthy, normal lives. The newborn screening program is one of our nation’s greatest public health achievements, but that doesn’t mean it is perfect.

Newborn Screening: This Tiny Test is a Big Job That’s Always Improving |

Last year a series in the Milwaukee Journal Sentinel drew public attention to some of the areas in which the newborn screening program needed to improve. That story and a recent editorial in USA Today focused on the amount of time between specimen collection, testing and reporting of results. Timeliness is critical for the newborn screening program to be a success, and we acknowledge the valuable contribution these articles have made.

Continual quality improvements – including timeliness – have been and continue to be a priority for public health laboratories, the agencies responsible for identifying and reporting positive newborn screening test results. In fact, APHL recognized the efforts of many state programs during the 2014 Newborn Screening and Genetic Testing Symposium. Many state newborn screening programs have conducted hospital site visits; conducted targeted outreach to lagging performers and publicly recognized top performers; provided hospitals and other specimen submitters with guidelines for collection of specimens; reinforced regulatory requirements; and provided training for use of overnight courier shipping software. Program changes like these in states around the country have significantly improved specimen transit times.

APHL and its members have collaborated with the Department of Health and Human Services Discretionary Advisory Committee on Heritable Disorders in Newborns and Children to develop updated recommendations on timeliness guidelines. These activities occur in tandem with a series of other quality improvement activities including proficiency testing, evaluation of emerging technologies and implementation of quality practices pertaining to screening, confirmation and results reporting.

I am proud of the work state newborn screening programs are doing every day. We do not take the public health laboratories’ role in this life-saving program lightly, and I thank the staff for their dedication to improving it. Our focus is on the babies – it always has been and always will be.

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Family Stories are the Best Way to Grasp the Value of Newborn Screening

Sep 18 2014 :: Published in Newborn Screening and Genetics

By Michelle M. Forman, senior media specialist, APHL

Family Stories are the Best Way to Grasp the Value of Newborn Screening |

Did you know that September is National Newborn Screening Awareness Month? Even though this simple test is performed routinely on all babies born in the United States, it is still important to understand what it tests for and what to do if your baby has abnormal results. There is no better way to grasp the value of newborn screening than through the stories of families who have lived it.

I have gone through the newborn screening process twice, once with each of my children. The nurse came, whisked the baby away for a quick test and brought her/him back with a bandage on their heel. If I didn’t work in this field, I probably wouldn’t have asked. There was just too much going on during those days in the hospital. But I did ask – and I asked the pediatrician for their results. Fortunately, my children’s results were both normal.

Yes, newborn screening is looking for conditions that are extremely rare. Yes, the odds are that your baby does not have one of these hereditary conditions. But it is possible that they do and, if caught early by this amazing public health service, they can be treated and go on to live a healthy life.

After coming to know the families who shared their stories with me, seeing my baby taken to the nursery for that little heel prick was of immense comfort. Below is a list of all of the personal and family stories we have on our blog sorted by condition. They are stories of fear, stories of close-calls and many are stories of joy. Were it not for newborn screening, these families would have dramatically different lives than they do now. But instead, they are watching their children reach milestones, win awards, graduate and even start families of their own.

Thank you to the nurses, doctors, laboratorians and advocates working on newborn screening every day!

3-methylcrotonyl-CoA carboxylase deficiency (3-MCC)

Biotinidase Deficiency

Congenital Hypothyroidism

Critical Congenital Heart Disease (CCHD)

Cysitic Fibrosis


Isovaleric Acidemia

Malonic Aciduria

Maple Syrup Urine Disease (MSUD)

Phenylketonuria (PKU)

Propionic Acidemia

Severe Combined Immunodeficiency (SCID)

Sickle Cell

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Chemical Exposure Study in NY is Innovative and Promising

Each year, about 250,000 babies are born in New York. Shortly after each birth, hospital staff pricks the baby’s heel, capturing and drying several drops of blood on a special filter paper known as a Guthrie card. The blood sample is then sent to the state’s newborn screening program at the Wadsworth Center, where it is screened for 45 different genetic, endocrine or metabolic disorders. The speed of the screening process and confirmatory diagnostic testing allows at-risk infants access to prompt and often life-saving medical care.

Chemical Exposure Study in NY is Innovative and Promising |

Some of the remaining collection cards, which are held under highly secure conditions without any identifying links, are now being utilized in a fully consented biomonitoring study funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). The study will examine the link between environmental chemical exposures, childhood development and long-term health outcomes.

Biomonitoring is the direct measurement of natural and synthetic chemicals in a person’s body via blood, urine or breast milk samples. In this study, called Upstate Kids, 3,800 children are enrolled from birth and followed through the age of three. The study is approved by the Department of Health’s Institutional Review Board and is being performed with the full consent of the parents of enrolled children. It is a collaboration of the Wadsworth Center and the Center for Environmental Health within the New York State Department of Health and the State University at Albany, School of Public Health.

How is it possible to use stored collection cards for this purpose? According to Kenneth Aldous, PhD, director of the Environmental Health Sciences Division at Wadsworth, biomonitoring is experiencing a rapid expansion in capability due to “the advancement in computers and analytical instrumentation, which has allowed us to measure samples more quickly, using smaller and smaller volumes of human body fluids.”

It is natural that scientists who study the levels of chemicals in people, tracking the rise and fall of certain toxins through the years, would recognize the value of stored newborn blood samples. Dr. Kurunthachalam Kannan, a scientist at Wadsworth working on this study, noted that, “With the help of the parents, we can link the baby’s weight, head circumference, height, and other demographic information to health outcomes of babies. By gaining permission to extend the study once the children reach adulthood, we may also be able to monitor them over their lifetimes.”

The stumbling block for researchers has been that the dried spots on the cards are very tiny, far beyond what they consider a “smaller volume” sample. Is it even possible to create a sensitive enough assay to allow researchers to use the small volumes contained in these residual collection cards? Wadsworth experts now believe that it is.

Using a technique that involves liquid-liquid extraction and high performance liquid chromatography/tandem mass spectrometry method, Kannan and his colleagues have looked for certain endocrine disrupting environmental chemicals (polybrominated diphenyl ethers [PBDEs], perfluorooctane sulfonate [PFOS], perfluorooctanoic acid [PFOA] and bisphenol A [BPA]) in both whole blood samples and dried blood spots. Although they are still trying to determine how to get an accurate measurement of the sample’s exact volume, the results from the collection cards have been remarkably accurate in comparison to the whole blood samples.

In an interesting quirk of the study, the researchers realized they also needed to understand the specific amount of background chemical contamination present on the card. According to Kannan, it matters how the nurses handle the card at the hospital, how it is packaged and mailed, and even how long it is held during the newborn screening process. To evaluate this ambient contamination, laboratorians used a blank punch, reasoning that this spot (taken from an area of the card without any blood) would experience the same contamination as the dried blood, thus allowing scientists to correct for potential contaminations that happened in the hospital after birth compared to chemical exposure that occurred through the placenta.

The success of this study may open the door for biomonitoring programs to study all kinds of childhood exposure to chemicals. In the past, scientists were only able to make educated guesses on chemical exposure via a complex modeling process. Measuring the chemicals directly in people provides valuable information about the sources of chemical exposure and potential long-term health effects. As further research is done, it may also be possible to test for biomarkers for developmental concerns.

In addition to blood samples drawn at birth, and regular motor and social development updates, this study is also gathering extensive demographic information about maternal age, health and assisted reproductive interventions. Many people have concerns about the effect of IVF on the long-term health of the child and studies like this one may provide some answers. The parents of these children will receive ongoing updates of developmental progress and if any child develops health issues, there will be significant data that may help inform the child’s treatment.

With access to the incredible storehouse of information available from these collection cards from nearly every child in the state, in future approved studies, scientists may be able to look at a broader population for trends in chemical exposure over time. Just as public health programs succeeded in getting lead out of gas and paint, and ultimately out of people’s bodies, these studies will help identify which chemicals are causing problems for human health.

At the heart of it, said Aldous, “What is getting into us through the environment? What other chemicals are already present in newborns and how have they been exposed?” Also, said Kannan, “Why are some people sensitive to a chemical exposure of a small amount, when it takes much more to cause a health problem in the next person?”

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Dylan Coleman Has a Story to Warm Your Heart

Feb 14 2014 :: Published in Newborn Screening and Genetics

by Nancy Maddox

Dylan Coleman Has a Story to Warm Your Heart |

Dylan Coleman, a vivacious one-year-old, is super smiley and loves to be held. “He’s got a ridiculous amount of hair,” says his mom, Michele, and “he loves his older brother.”

Yet if not for a simple newborn screening test, Dylan would likely not be alive today.

Flash back to December 2012, to the day Dylan was born in Silver Spring, Maryland. “The baby went to the nursery to sleep, and in the morning they didn’t bring him back to me when I asked for him,” said Michele. “I asked again:  Where is Dylan? Can I have him?”

As a pediatrician soon explained to Michele, Dylan’s pulse oximetry test—a painless procedure that uses a beam of light to measure to measure the oxygen in the blood—showed that Dylan wasn’t getting sufficient oxygen to his lower extremities. Doctors suspected a problem with his heart and arranged for Dylan to have an echo cardiogram, a sonogram of the heart that would let them view its parts in motion.

Said Michele, “I was very annoyed. I was dressed and ready to go home. My husband had already left to tend to our other son,” who was then two-and-a-half years old. “I was curious,” said Michele, “but I don’t remember being nervous. I was ready to go home.”

After waiting five hours for the on-call, weekend cardiologist to arrive and perform the echo cardiogram, Michele received devastating news:  Dylan was born with multiple heart defects and would have to have open heart surgery or he would die.

The newborn was taken directly to the neonatal intensive care unit and, late that evening, was transferred to Children’s National Medical Center in Washington, DC.

“A cardiologist drew a heart and walked me through the problem,” said Michele. “I totally felt like I was disconnected from my body, like I was blowing in the wind.”

In brief, Dylan’s aorta, the largest blood vessel in the body, was not completely developed (i.e., interrupted) and he had a hole between his pulmonary artery and aorta that enabled oxygenated and unoxygenated blood to mix. Also, his ductus arteriosis—a blood vessel that is used in utero and normally closes soon after birth—hadn’t yet closed.

The open ductus arteriosis, however, was actually good news. As Michele explains, “The interruption of the aortic arch was like an accident on the highway, and the [still-open] ductus was a detour, so the blood still could get through to the stomach and legs.”

As Dylan awaited surgery, he was given a drug called prostaglandin to keep the ductus arteriosis open and thereby maintain some blood flow to his lower body.

“If you don’t have blood flow to the stomach,” said Michele, “lots of things start to break down. [Without early medical intervention] Dylan might not have died right away, but within 72 hours his organs would have started to fail, because he wasn’t getting blood. . . . . The chances of him living a normal, healthy life went down and down and down, really, every minute that we waited [for medical intervention].”

Five days later, Dylan’s surgery was a complete success, and, about two weeks after that, he was discharged from the hospital. Said his mom, “You would never know that he had surgery. He does everything that he should be doing. He’s sweet and happy. At his last check up in August 2013, Dylan’s cardiologist told us everything was great and his heart is fully repaired.”

Michele Coleman realizes how lucky her family is. The state of Maryland began crib-side screening for congenital heart defects—via pulse oximetry—in September 2012, just a few months before Dylan was born. In fact, Dylan was the first baby born in Maryland to be diagnosed with a heart defect as a result of the test.

Had Michele delivered in Washington, DC, where she and her family live, Dylan would not have received routine newborn screening for heart defects.

Without pulse oximetry, Michele said, “we may have had a very different outcome.”

Maryland was the third state to add critical congenital heart disease (CCHD) to its newborn screening program. The state screens about 74,500 newborns each year, and, as of February 10, 2014, had detected four infants with CCHD via pulse oximetry testing, including Dylan.

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Despite Congenital Hypothyroidism, Madeleine’s Life is Magna Cum Laude

Dec 02 2013 :: Published in Newborn Screening and Genetics

Baby Madeleine was born in Massachusetts in 1991 – the second child in her family.  When her parents got a call that her newborn screening was positive for congenital hypothyroidism (CH), they didn’t know what to think.  They didn’t know that babies born with CH can’t produce enough of the essential thyroid hormone, and that if left untreated they could have developmental delays or intellectual disabilities.  They were about to learn everything they needed to know to prevent their new beautiful daughter from having any of these negative effects.  Madeleine is now 22 years old.

This is an interview with Madeleine’s mother.

Despite Congenital Hypothyroidism, Madeleine's Life is Magna Cum Laude |

Had you heard of newborn screening before your daughter was born?

I don’t remember being aware of any screening, although in the back of my mind I must have known that somehow there were conditions that had a test.  I remember reading about a few rare conditions, like PKU and cystic fibrosis.  However, I definitely had not heard of hypothyroidism. I didn’t know what it was.

When did you get the call that Madeleine’s results were abnormal?  What was that experience like?

I got the call about eight days after Madeleine was born.  It was the Friday before Easter, around 4pm, when the doctors’ offices were about to close.  Our pediatrician, Dr. Robert Thomas, called and immediately I knew something was odd.  He started off by telling me that he had just received the results of the newborn screening and that she was positive for a condition called hypothyroidism but that it was eminently treatable and that I shouldn’t panic.  At the time I didn’t really know what hypothyroidism was and all I could think of was that it was related to Down’s syndrome.  But the doctor quickly set me straight about that and said that if she had to get anything, this was easier than any other condition.

Did you see any signs that something was wrong before that?

Madeleine as a newborn was very different from my first child.  She would sleep for five to six hours in between feedings and, when she did nurse, she would projectile vomit afterward.  I was a little concerned but knew we had a two-week visit with the pediatrician coming up.

What did the doctor tell you to do?  What did he tell you about the condition? 

The doctor explained hypothyroidism to me over the phone and, while he couldn’t tell me what had caused the condition in Madeleine’s case, he did say that there was a replacement hormone they would give her that would make up for the deficiency and that her mental ability would not be affected which was my main concern.  He also set up an appointment for Monday morning with the pediatric endocrinologist at our hospital so that we could start the process of getting her on track right away.

Were you familiar with congenital hypothyroidism?  Did you do any research between when you received the call and finally saw the doctor?

I was pretty ignorant about congenital hypothyroidism.  All I knew was the information that the doctor had given me on that Friday.  This was in 1991, before we had a computer and before most people had internet in their home, so I was not really able to do any research over the weekend.  However, I got a lot of information from the endocrinologist when we saw her on Monday.  At the time, I don’t think anyone knew how much of a thyroid Madeleine had, so we were still wondering if it was something that would go away over time.  Later in the week, they did a nuclear scan at the hospital, and I don’t think they were able to see much tissue.

How did it feel to get this information?

It was pretty overwhelming at the time.  It was all within a two-week period after I had given birth so I was pretty hormonal and at one point broke down in tears in the pediatrician’s office.  But everyone was so cheerful and reassuring that we got over it and just figured we would do what we had to do.  What was really most reassuring was that the doctors assured us she would have a normal intellectual ability, which was our biggest concern.

What was your daughter like as a baby?  What was she like as she grew up?

Madeleine was a happy, cheerful baby.  She reached all the milestones that parents look for in good time, and by the time she was a toddler was able to sit calmly to get her blood tests to check her thyroid levels which was amazing to the phlebotomists. She was a foodie from an early age.  Our friends would remark that they had never seen a toddler who loved guacamole!  She still loves to cook and was always a fruit and vegetable eater.  She was good in school and recently graduated magna cum laude from Mt. Holyoke College with a degree in Biology.  She has started a job as a research assistant in a lab at Boston Children’s Hospital and hopes to go to med school in two years.

It sounds like she is very successful and is leading a great life – Do you often think about what might have been?  Or have you put it out of your mind completely?

We really don’t think about it anymore since Madeleine’s thyroid levels have been so stable all these years.  She has been responsible for taking her pill every day. We don’t worry too much because even if she misses a day or two, she can make it up and it doesn’t affect her.  She is now responsible for getting her own blood test and seeing the endocrinologist once a year; every visit is pretty uneventful.  We are lucky to be living in a time when science has been able to control this condition.

How do you feel about newborn screening now?  Do you tell other expectant parents about it?

We are grateful that newborn screening was in place in Massachusetts and that we were able to catch this so early.  If it had not been caught and she had gone three or six months or even longer before the problem was diagnosed, we don’t know what the outcome might have been.  We were also very grateful to Dr. Marvin Mitchell and Rosalie Hermos at the newborn screening lab who reached out to us for a parent group and a conference when Madeleine was little.  We took a tour of the lab and saw the great work that was done there, and they gave us so much information that we felt very reassured.  This is a very valuable service to new parents, and we do tell other parents about it when the occasion presents itself.

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NFL Hall of Famer is Passionate About Newborn Screening

Nov 12 2013 :: Published in Newborn Screening and Genetics, Partners

Guest Post by Jim Kelly, President and Co-Founder, Hunter’s Hope Foundation; Retired NFL Quarterback and Hall of Famer

Last month, I had the privilege of participating in APHL’s 50th Anniversary Celebration of Newborn Screening.  I also spent time on Capitol Hill, meeting with members of Congress, senators and legislative staffers to gain support for the Newborn Screening Saves Lives Reauthorization Act.

My son, Hunter (2/14/97-8/05/05), was affected by a rare genetic disorder called Krabbe Leukodystrophy.  When Hunter was born, there was no newborn screening test for Krabbe. By the time he was finally diagnosed, we were told there was no treatment, no cure, and that he would live to be about 13 months old.

NFL Hall of Famer is Passionate About Newborn Screening |

When my wife, Jill, and I started Hunter’s Hope Foundation shortly after Hunter’s diagnosis, we knew it was too late to help our son. But we wanted to help other families like ours by funding research for improved treatments and ultimately a cure of Krabbe and similar disorders.  Through Hunter’s Hope, I’ve also become an advocate for newborn screening – not just for Hunter’s disease, but all diseases where early detection can make a difference.

While in DC, I had several meetings with legislators whose support will be instrumental in moving the Newborn Screening Saves Lives Reauthorization Act forward.  Additionally, I hosted a briefing to discuss this essential legislation and the importance of newborn screening to legislative staffers, as well as members of the media.  At the briefing, I was joined by Representative Chris Collins (NY), Representative Peter King (NY), and Representative Lucille Roybal-Allard (CA), one of the bill’s introducing sponsors.

I was also joined at the briefing by Jana Monaco and her children Stephen (16) and Caroline (11).  Stephen was diagnosed with isovaleric acidemia as a toddler.  By the time he was diagnosed, it was too late to reverse the physical and mental impairments he suffered as a result of the disease. Caroline was diagnosed with the same disease at birth through newborn screening.  Because she was diagnosed and treated early, Caroline is now a healthy 11 year-old.

NFL Hall of Famer is Passionate About Newborn Screening |

Children like Stephen and Caroline are the reason we must continue the work that was started with the Newborn Screening Saves Lives Act of 2008.  Prior to 2008, there was a huge discrepancy in the number of diseases states included in their newborn screening programs – New York was only screening for 11 disorders while Mississippi was screening for over 40 disorders.  I’m proud to say that today New York screens for almost 50 diseases including Krabbe.

I can’t tell you what a blessing it is to meet parents who introduce me to their son or daughter saying, “If it weren’t for newborn screening, my child wouldn’t be here today.”  In fact, the first child to be diagnosed and treated with Krabbe disease through New York’s newborn screening program started Kindergarten last month.

Although progress has been made, there is still more work to be done. 

I let our nation’s leaders know that the Newborn Screening Saves Lives Reauthorization Act must be a priority.  This is something we can do right here at home to make sure that all children born in our country are given the best possible chance at a healthy life.

All children should be given the chance to dream like I had as a little boy.  I saw my dreams come true when I became an NFL quarterback, but my son, Hunter, and so many kids like him never had the opportunity to dream.  I, together with my wife, Jill, am committed to doing everything that we can to make sure that all babies are screened for the maximum number of diseases possible at birth so that no one has to suffer the way Hunter did.

You can join me in this effort – click here to let your lawmakers know you want them to support this important legislation.


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What Exactly Does the Shutdown Mean for Public Health?

As we face day three of the federal government shutdown, we are hearing more about the deeply felt impact on our federal partners.  While we can be grateful that local and state public health agencies are still hard at work, the federal portion of the continuum is minimally staffed and operating a bare-minimum of essential programs that ensure the public’s health and safety.  Below are some of the negative effects we are hearing from the Centers for Disease Control and Prevention (CDC), the United States Department of Agriculture (USDA), the Food and Drug Administration (FDA), and the Department of Health and Human Services (HHS).

What Exactly Does the Shutdown Mean for Public Health? |

Reference Testing Services Will be Delayed or Absent

CDC provides highly specialized reference testing for rare pathogens and for rare instances of drug resistance. Although CDC will maintain many of these services, the number of staff performing these tests will be greatly reduced. The result will be a delay in delivery of potentially lifesaving test results.

For example, the Division of Tuberculosis Elimination performs sequencing to detect mutations associated with drug resistance to rapidly identify persons with drug resistant TB.  It is the only laboratory in the country that is currently utilizes this method (which provides a high level of detail) for public health investigations.  Delayed results will lead to delays in delivering optimal treatment to patients and mounting an appropriate public health response.

National Disease Surveillance Will Be Weakened

CDC collects data on infectious diseases from all 50 states, local jurisdictions and territories.  The compiled data tracks how diseases are spreading and helps scientists to identify multi-state outbreaks.  One of the best examples of this function is influenza surveillance.  Flu season is upon us; CDC monitors the flu virus strains that are circulating nationally, keeps track of any resistance to drugs, and determines how well this season’s flu shot will work against circulating strains, and sends national alerts to public health professionals when things look out of the ordinary.  It shares the data generated from this activity with state and local health departments, providing them with a “big picture” view of flu activity across the country. Armed with this information, they can prepare effectively for potential outbreaks in their area. But a prolonged government shutdown will reduce the clarity of the big picture view, since less data will be collected.

CDC Support of Local Outbreak Response will be Limited

CDC services like advanced testing and consultation to state and local public health programs facing cases or outbreaks of relatively rare diseases. Because these diseases are so rare, many jurisdictions rely heavily on subject matter expertise at CDC for advice and information when responding. Although CDC’s skeleton crew of staff will do its best to assist, state and local public health departments will be largely on their own when it comes to responding to outbreaks of relatively rare diseases like measles or mumps.

Food Safety Will be Negatively Impacted – More People Could Get Sick

  • If you and others who ate the same food become ill from certain types of foodborne bacteria, you may never know the cause of your illness, as CDC will not be analyzing all of the data submitted, and FDA and USDA will not be following up on those leads to track the source of the illness.  These are necessary steps to ensuring fewer people get sick.
  • CDC will delay assessing the proficiency of state and local laboratories that participate in PulseNet.  This bi-annual assessment may be pushed back for several weeks, even if the shutdown only lasts several days.
  • State and local scientists who want to begin submitting DNA fingerprints to PulseNet will not be allowed to, as CDC certification of new PulseNet participants will be on hold.
  • In normal operating status, state and local food regulators do not have enough resources to properly inspect all retail food establishments and restaurants.  With federal inspection personnel on furlough, even fewer establishments will be inspected to make sure that they are following the regulations.
  • CDC’s IT staff have been furloughed. PulseNet IT staff are not present to aid public health laboratories if they are unable to connect or submit data to the national databases. If the system fails, national outbreak detection could come to a halt. If communication list-serves fail, there are few remaining staff with the know-how to repair these critical national communication tools.

Select Agent Program Has a Delayed Response

Due to the absence of either an FY 2014 appropriation or a Continuing Resolution for HHS and USDA, the Federal Select Agent Program, which oversees the possession, use and transfer of biological select agents and toxins that have the potential to pose a severe threat to public, animal or plant health or to animal or plant products, is not fully staffed and thus unable to provide timely regulatory compliance support to state and local entities. These regulatory gaps could have serious implications for safety and security.

Laboratory Response Network Anticipates Delays

Because the CDC is operating with minimal staff throughout, the Laboratory Response Network, which is the nation’s premier system for responding to potential bioterrorism, chemical terrorism and other public health emergencies, is down to just a few staff with anticipated delays in responding to requests for assistance from state and local public health laboratories and no support for daily reagent shipments.

The larger impact is the lack of federal support for state and local public health. While these state and local agencies continue to conduct routine surveillance and monitor the nation’s health, they rely on their federal counterparts to provide the big picture of disease spread, potential releases of biological threats as well as scientific guidance and methodologies to detect novel threats, like the MERS-coronavirus.

Newborn Screening Laboratory Quality Assessment Delayed

Closing CDC has delayed the fourth quarter assessment of newborn screening laboratory quality. If the delay is extended, then these laboratories will not be able to rely on the assistance of CDC to maintain their compliance with Clinical Laboratory Improvement Amendments, the federal law known as CLIA. Newborn screening depends upon high complexity laboratory operations that are governed by the requirements of CLIA, which include an independent external review to provide quality assurance – and is provided by CDC in the case of newborn screening.

The shutdown will force newborn screening laboratories to seek out non-traditional sources for external review, establish a working relationship with them – possibly at some expense, and pursue activities to meet the CLIA quality assurance requirements. This will not only be inefficient, cumbersome and potentially costly, it will also result in a greater degree of uncertainty because it has never been done.

As CDC’s website details, “The Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, operates the Newborn Screening Quality Assurance Program (NSQAP). NSQAP is a voluntary, non-regulatory program to help state health departments and their laboratories maintain and enhance the quality of test results. The program is operated in partnership with APHL. The program provides services to more than 85 domestic newborn screening laboratories, 31 manufacturers of diagnostic products, and laboratories in 67 countries. NSQAP has been the only comprehensive source of essential quality assurance services for dried-blood spot testing for more than 33 years.”

The shutdown will add an unnecessary burden and additional complexity to one of the most successful public health programs in the United States.

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Avery’s Story: One test has completely changed her life

Sep 18 2013 :: Published in Newborn Screening and Genetics

By Nancy Maddox, writer

“This is how naïve we were,” said Sherry Dilworth. “We had the whole family going to the hospital. We had a bag of bread; we were going to feed the ducks afterward.”

On that afternoon in 2009, Sherry and her husband were taking their third child, Avery, then just days old, for what they thought was routine follow-up for a mild case of newborn jaundice and fluctuating blood sugar levels. Like so many parents of children with inherited disorders, Sherry said, “I didn’t give a thought to newborn screening until it affected me.”

Sitting in the hospital waiting room, Sherry recalled, “I was laughing at a story my husband was telling when I heard the receptionist, speaking into the phone, say strange things like genetic testing and biochemical markers. The smile dropped from my face and I said to my husband, ‘I don’t think we know why we’re here.’”

Avery’s Story: One test has completely changed her life |

Unbeknownst to Sherry at the time, both she and her husband are carriers for a rare disorder called malonyl-coenzyme A decarboxylase deficiency or malonic aciduria for short. As confirmatory tests would show, Avery had inherited the defective gene from both parents.

Malonic aciduria is so rare that fewer than 30 cases have been documented worldwide. Untreated, it can be fatal. More commonly, it is associated with seizures, mental impairment, developmental delays and a heart condition called cardiomyopathy. Yet, because so little is known about the disorder—and Avery is among the first children to be diagnosed and treated from birth—physicians don’t even know how long affected youngsters will live.

When Sherry learned the full implications of the diagnosis, she said, “I could not fathom that we were talking about my perfectly happy and healthy looking baby girl and life expectancy in the same sentence… I’m thinking, Who are we to have this happen to us? But why not us?”

Despite the devastating news, Sherry considers her family lucky. The condition Avery has, she said, “all of our kids had a chance of inheriting.” Moreover, the state of Utah, where the family lived until recently, did not begin screening infants for malonic aciduria until 2006, just three years before Avery’s birth. “So had our other kids had it, they would have been missed.”

The disorder—which renders the body unable to convert certain fats to energy—is treated with a low-fat diet, regular feeding (as fasting can trigger a metabolic crisis) and daily doses of L-carnitine (a medicine that helps break down fats). Sherry said, “We have some minor issues [with Avery’s health], but what they told us could have happened was horrific. It is so amazing to me that this one test has completely changed her life. It would be so different right now.”

Today, Avery is four years old. She’s crazy about peaches, likes to push her baby dolls around in a stroller and is eager to start preschool this year. Sherry says, “She’s been wearing her backpack all week.”

In her young life, Avery has experienced minor problems with muscle tone and minor developmental delays—walking at 18 months instead of the usual 12, for example—but is otherwise a “normal” child. “If you didn’t know, you would see Avery and you wouldn’t have any clue that she has any health issues at all,” says her mom. “She climbs, she plays, she gets into trouble.”

In fact, Sherry says Avery has been fun for the whole family:

“Our older daughter, Neva, has autism and she prefers to be alone. Avery is super social. She flirts with everyone. She’ll just randomly talk to strangers and smile at them and everyone will say, ‘She’s so cute.’ . . . . She likes to dress up like a princess and she likes to wear those outfits to the store. If I’m in line, she’ll chat with the person behind us, she’ll chat with the person in front of us, and she’ll chat with the cashier. Neva adores Avery. She doesn’t like to play with other people, but she lets Avery go into her room all the time. Avery is like the thing that connects us all to each other. She’s like that for everyone; everyone has a special connection to her… There’s something about her that draws people to her. It’s infectious.”

Sherry is well aware how critical it was for Avery to have an early diagnosis. “If you took out newborn screening, we would have a completely different story,” she said. “The fact that we don’t have a tragic story, that’s the point. This is why newborn screening is so important.”

The state of Utah screens about 52,500 newborns each year for 38 disorders. About 350 Utah newborns are identified each year with a congenital disorder initially detected through bloodspot screening.


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I Work for the Babies, Says Minnesota Newborn Screening Laboratorian

Sep 10 2013 :: Published in Newborn Screening and Genetics

By Holly Winslow, Newborn Screening Analyst 2, Newborn Screening Program, Minnesota Department of Health

I fell into lab work.  What else is a fresh graduate holding a degree in biochemistry going to do? I signed up with the first lab to offer me a position.  It happened to be a lab connected to a large, private, very prestigious hospital. The pay was more than a newly minted college grad could hope for and it could only do good things to be associated with this prestigious organization on my fairly empty resume. I had no dreams to change the world. I only knew that laboratory work fit my skill-set and my degree, so I was there to learn all there was to know about the real world.

I Work for the Babies, Says Minnesota Newborn Screening Laboratorian |

I was introduced to and performed newborn screening in this private laboratory, but it wasn’t until I took a job at the public health lab that I fell in love with it. I save babies … every day. What more could a person ask for in terms of fulfillment in their career? The day to day routine of a public health laboratorian and a private hospital laboratorian are pretty similar. I test specimens using whatever assay I am assigned to that day. I review data and report normal, abnormal, and presumptive positive results based on my data. I take pride in the accuracy and efficiency of my work. This was the same at both the private and public health labs. So what made the difference between the private and public lab? Why did it take going to the public health lab for me to find my passion for newborn screening?

At the private lab, the focus was on the hospital. The specimens that we tested were not thought of as patients, and we didn’t consider the person behind the specimen. It was all about improving the testing we were doing in the lab. We wanted to be the best laboratory, which is not in itself a bad thing, as improving the laboratory improved the testing for the patients we served.  But this approach didn’t foster an environment that was patient-centered. I felt like I was working for the lab, not working for the patient.

In an effort to try my hand outside of a laboratory, I tried working in corporate environmental health and safety. But I always felt the constraints of the company bottom line competing with the purpose of ensuring safety. My job was to create safety warnings for the company’s products through safety data sheets or product manuals. It sounded noble when I started the position. I would be ensuring that the products sold by the company were safe to be sold throughout the world. In reality, it was focused on following the regulations so that the product was in compliance, but not making it sound so scary that the consumer wouldn’t purchase the product. I was working for the company, not the consumer.

In the end, I came back to public health and newborn screening because we help everyone with no agenda and no bottom line. The Minnesota public health lab was where I learned to think about every specimen as a baby. The public health lab was where I found my passion for helping our most helpless citizens regardless of whether they could afford to be treated at a prestigious hospital or buy an expensive product. The public health lab was where I began to think of my work in the context of the community I lived in and what impact I could make on the health and wellness of my neighbors. The public health lab is where I came to believe enthusiastically and whole-heartedly in the mission of newborn screening – to improve lives of babies every day through one simple test.  The public health lab is where I will stay because here I don’t work for the prestige or the profit. I work for the babies.

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Riley and Teagan, Sisters Living With Cystic Fibrosis

Sep 05 2013 :: Published in Newborn Screening and Genetics

By Nancy Maddox, writer

Sara Rose Barth affectionately refers to her two young daughters—Riley, age 6, and Teagan, almost 4—as mini mes.

“Riley is exactly like her father in personality and stubbornness and being a night owl. Teagan is the early riser, the organizer, creative and over-the-top. She would be my mini me.”

Yet despite their differences, Barth says the girls “have a true sister bond.” Both were born with cystic fibrosis (CF), an inherited disorder that affects about 30,000 US children and adults and about 70,000 people worldwide. People with CF have a defective gene that causes the body to produce unusually thick, sticky mucus that clogs the airways—leading to potentially life-threatening lung infections—and obstructs the pancreatic ducts that secrete enzymes to help the body break down and absorb food.

Riley and Teagan, Sisters Living With Cystic Fibrosis |

When she had her first pregnancy, Barth knew she and her husband were CF carriers, meaning they each had a recessive mutation for CF. Genetic testing at 11 weeks of pregnancy indicated the baby had inherited the mutation from both parents and, if test results were correct, would be born with the disorder. “We did quite a big roller coaster ride of emotions,” said Barth. “We were going to continue anyway.”

Riley arrived six weeks early, and, Barth said, “has been a spitfire ever since.” Newborn screening confirmed the earlier test results.

During Barth’s second pregnancy, she and her husband opted to forego prenatal testing. As Barth says, “We weren’t going to do anything anyway.”

The Michigan Public Health Laboratory expedited Teagan’s newborn screening results, which showed that, like her sister, she has CF.

The main treatments for the disorder focus on minimizing lung and digestive problems caused by mucus build-up. Riley and Teagan take oral pancreatic enzymes to help digest food, take a specially formulated vitamin to get a nutrient boost, and have breathing treatments to keep the mucus moving through their lungs. They also take antibiotics to prevent lung infections and, every 18 to 24 months, receive two to three weeks of stronger, intravenous antibiotics—a “tune up” the girls call it.

“My kids are very good and understanding that treatments are not optional,” says Barth. “They know the routine and know what they need to do. They sometimes correct the therapists: ‘That’s not how you do that.’”

Nonetheless, Barth says, “We don’t let CF dictate our lives. We try to emphasize normalcy on a daily basis. The girls still have to follow rules and are disciplined.”

And they have a healthy dose of play. Both Riley and Teagan take swimming lessons in Novi, Michigan, where they live. Riley is a daisy scout, has been enrolled in ballet class since age three and is practicing lyrical jazz at the moment. “She is my diva,” says Barth. “She can go from happy-go-lucky to giving you the glare that would melt you. She has to know about everything. She’s always questioning and trying to figure things out.”

Teagan is taking a summer “princess ballet” class and also takes gymnastics. Barth calls her “your I’m gonna go play football in a dress kind of kid.” She says, “If there’s something to hang on or dangle from, she would be the kind of kid who goes and does it, no matter how high or where or what the risk is.”

Barth is grateful the girls received an early diagnosis, so they have the best possible chance for a long and active life. She says, “Newborn screening is not something to fear. It’s not knowing your kid is sick that you should fear. Newborn screening is your window into knowing what’s going on with your child.”

In 2011, the Michigan Public Health Laboratory screened 112,177 Michigan babies for newborn screening disorders. Eleven were identified with cystic fibrosis.

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