Analysis of clinical characteristics and genetic testing in patients with acute fatty liver of pregnancy: a retrospective study

Abstract Background Acute fatty liver of pregnancy (AFLP) is an acute, rare and potentially lethal disease typically occurring in the third trimester pregnancy. So far, there no effective means prevention. Therefore, this study, we retrospectively analyzed clinical features AFLP patients for a better understanding. Meanwhile, first time, genetic background associated with onset was discussed by high-throughput sequencing, hoping to provide evidence counseling prenatal diagnosis AFLP. Methods Thirteen admitted our hospital other from March 2012 February 2020 were selected. Clinical data about general condition, laboratory test, biopsy prognosis mother fetus collected retrospective analysis. In addition, peripheral blood five one newborn infant his sequenced whole-exome sequencing gene mutation bioinformatics methods. Results The initial symptoms varied differently, jaundice (9/13, 69%), fatigue (8/13, 62%) nausea vomiting (6/13, 46%) being most common. Moreover, main maternal complications coagulopathy (13/13, 100%), followed acute renal dysfunction (10/13, 77%). Raised serum bilirubin, transaminases uric acid found all (100%), hypoglycemia six (46%) on ultrasound seen (5/12, 42%). One (7%) death occurred neonates survived delivery. surprise, showed that related enzymes involved metabolism noted pregnant women children receiving testing. Conclusions Early visit, early detection, termination multidisciplinary comprehensive treatment are key factors improve their infants. Furthermore, although limited size knowledge, report present lack common oxidation Chinese via sequencing. Thus, further studies needed larger more samples validate conclusion.