Newborn screening: behind the scenes

newbornscreening_3.jpgRecently, I had a post about a story of a mother of a boy with MCAD (medium chain acyl CoA dehydrogenase defect) from Texas who is also a member of website. Some days before, Erica Ann Lehotzky, a senior studying microbiology, molecular genetics and also working at the Michigan Department of Community Health’s Newborn Screening lab left a comment on my Medscape interview. I asked her to take us behind the scenes to know more about the newborn screening systems, new tests and the future improvements.

  • When and why did you start to work in a newborn screening lab? Tell us a bit more about you!

I started my job in Michigan’s NBS lab nearly a year ago. I feel very fortunate for being offered the student position, as it’s the most rewarding work I’ve ever done. In May I’ll graduate with my bachelor’s degree in microbiology from Michigan State University, and will probably continue to work at the NBS lab over the summer.

  • You may not know that but in Hungary, babies are screened for only four diseases (phenylketonuria, galactosaemia, biotinidase deficiency, congenital hypothyreosis). In the state of Georgia, this number is 28. The reason is only the financial difference? What do you think?

I believe if even one infant has suffered through a condition that could have been prevented through screening, it should be added to the testing list. From a public health perspective, it is much more cost effective to prevent the symptoms of the conditions through early detection rather than paying for treatment when the child is older. Unfortunately, many governments only take the upfront NBS cost into perspective.

  • You test for over 40 diseases? How can it be possible? I mean you test every baby for 40 diseases or some of these are only for specific diagnostic reasons?

Every live birth in Michigan is tested for all of the diseases on our list. Occasionally we’ll get a “high risk baby,” such as if an older sibling of the infant had one of the disorders. In this case we make that baby first priority and try to get it through the process as fast as possible.

If you would like a full list of the diseases we test for, you can find it here in a pdf document.

We run 6 assays every day. Most only check for one or two of the diseases, however one is run using tandem mass spectrometry. The data produced is analysed and helps determine results for metabolic disorders. Most of the amino acid, fatty acid, and organic acid disorders are tested through this method.

  • You mentioned that cystic fibrosis will be added to the list soon. How will you test for CF?

I’ve been told that when we start testing for CF, it will be done at the same time as the assay that tests for Congenital Adrenal Hyperplasia (CAH).

  • You’re doing research in your lab. The subject is Group B Streptococcus. Tell us about it!

In addition to the NBS lab, I work in a research lab at my university. Much of our research there is on E. coli, but right now I’m on our Group B Streptococcus (GBS) project. GBS is the primary cause of sepsis and meningitis in infants, and can also cause disease in elderly patients. Many people (male and female) can be carriers of GBS without it affecting them. We performed a study a few months ago at our student health center to find the prevalence of GBS in female students. I’m now working on antibiotic susceptibility testing of the isolated GBS strains from that study.

Thank you, Erika, for the kind answers. I’m sure about that this short blogterview helped us to understand better the different newborn screening systems. Below take a look at the image representing the number of screened disorders by states:


If you would like to read more on the subject, don’t miss these sites: