Alagille Syndrome
Genetic and congenital
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Suction Rectal Biopsy Provides Accurate Diagnosis of Hirschsprung’s Disease in Neonates

Posted on February 27, 2020
Suction Rectal Biopsy Provides Accurate Diagnosis of Hirschsprung's Disease in Neonates

Recent literature, including a European survey, has reported concerns over the accuracy of suction rectal biopsy (SRB) to diagnose Hirschsprung’s disease in neonates, leading a good proportion of healthcare providers to favor use of more invasive full-thickness transanal biopsies, which have been associated with bleeding, scarring, and the need for general anethesia. However, a single-institution retrospective review by a group of Utah physicians found that SRB resulted in adequate tissue for evaluation of Hirschsprung’s disease in nearly all of their patients aged <6 months of age on the first attempt and that it was highly accurate in both preterm (even those weighing <2500 g) and newborn infants.

The study included 153 patients and a total of 159 SRBs. Among these patients, 43 patients were diagnosed with Hirschsprung’s disease. A second SRB was required in 6 patients (3.9%) secondary to an inadequate tissue sample. No complications with SRB were reported. Sensitivity and specificity of SRB was 100% across all age groups (ie, preterm, term neonate, infant). About 50% of patients with a negative SRB were followed for at least 1 year and none received a subsequent diagnosis of HD.

Read more here.

Reference

Allen AR, Putnam AR, Presson AP, Allen CM, Barnhart DC, Rollins MD. Accuracy of Suction Rectal Biopsy for Diagnosis of Hirschsprung’s Disease in Neonates. Eur J Pediatr Surg. 2018 Aug 1. doi: 10.1055/s-0038-1667040.

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