Dried Blood Spot Testing for Biliary Atresia

C-S Lee el al. JPGN 2023; 76: 418-423. A Pilot Study of Biliary Atresia Newborn Screening Using Dried Blood Spot Matrix Metalloproteinase-7

Methods: The study used stored DBS samples collected from 48 to 72 hours of life were retrieved from newborn screening centers in Taiwan (n=25 biliary atresia (BA), 107 non-BA)

Key findings:

  • MMP-7 levels of BA patients on the DBS were significantly higher than those of non-BA patients (19.2 ± 10.4 vs 5.6 ± 2.7 ng/mL, P value < 0.0001).
  • BA patients in this cohort underwent Kasai operation at a mean of 43 days. 32% (n=8) had surgery before 30 days of life, and 24% (n=6) had surgery after 60 days.
  • In this cohort, at time of publication, 9 (36%) of BA patients had received a liver transplantation at a mean of 2.4 years. Patients with their native liver tended to have had an earlier Kasai (38 days vs 54 days, P=0.057).

In their discussion, the authors note that BA starts very early in life. Increase in MMP-7 within 3 days of birth, supports “speculation that most BA ” may start before birth (JPGN 2019; 69: 396-403, What Is The Evidence That Biliary Atresia Starts in Utero?).

My take: Incorporating MMP-7 testing with newborn screening needs to be looked at in a bigger study. Efforts to identify BA cases earlier have largely been unsuccessful over the past several decades despite the knowledge that delayed diagnosis leads to worse outcomes.

Figure from JPGN Twitter Feed

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