Etiology of neonatal cholestasis after emerging molecular diagnostics.

ABSTRACT:

Background

In the pediatric group, most cholestatic patients had disease onset at 0-3 months of age, and more and more are found to have specific genetic defects after failing to obtain a definite diagnosis by routine evaluation. To investigate the etiological diagnosis for the newborns with cholestasis during the neonatal period after emerging molecular tests comprehensively.

Methods

We conducted a retrospective study to evaluate clinical characteristics, etiologies and outcomes in infants with neonatal cholestasis after emerging molecular diagnostics from January 1st to December 31st, 2019 in Children's Hospital of Fudan University.

Results

There were 160 cases of neonatal cholestasis with mean gestational age (GA) 32.6±4.8 weeks and birth weight (BW) 1,880±991 g, c

SUBMITTER: Wang H 

PROVIDER: S-EPMC8976681 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature