Abstract
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother’s health. WES after the birth of the twins confirmed the molecular data.
Highlights
Numerous liver diseases can occur during pregnancy, and some of them can be accompanied by serious consequences for the mother and the baby
We describe the case of a woman with diamniotic dichorionic twin pregnancy (DCDA)
X and the Y chromosomes combined the fraction and the analysis of autosomal single-nucleotide polymorphisms (SNPs) having a cell-free fetal DNA (cffDNA) fraction and the analysis of autosomal single-nucleotide polymorphisms (SNPs) frequency greater than 2%, we confirmed the dizygosity of the male twins, as expected by having a frequency greater than 2%, we confirmed the dizygosity of the male twins, as in vitro fertilization (IVF), and estimated the total cffDNA as approximately 10%
Summary
Numerous liver diseases can occur during pregnancy, and some of them can be accompanied by serious consequences for the mother and the baby They often have very similar presentation, and their diagnosis does not seem to be obvious in all cases [1,2,3]. Who arrived at clinical observation at 32 + 3 weeks of pregnancy for generalized itching, evocative of intrahepatic cholestasis, with liver enlargement suggestive of severe steatosis. This result, together with leukocytosis and increased serum transaminases and uric acid led to the suspicion of AFLP, five Swansea criteria being met. Since variants of some genes associated with AFLP can result in severe disease of the newborn if at homozygous or compound heterozygous state, we decided to analyze at the same time both fetal and parents’ DNA
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