Provenzano Aldesia, Farina Antonio, Seidenari Anna, Azzaroli Francesco, Serra Carla, Della Gatta Anna, Zuffardi Orsetta, Giglio Sabrina Rita
Medical Genetics Unit, Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy.
Division of Obstetrics and Prenatal Medicine, IRCCS Sant'Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.
Diagnostics (Basel). 2021 Oct 14;11(10):1904. doi: 10.3390/diagnostics11101904.
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 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.
妊娠期肝病可能表现为与妊娠期相关的急性病症，其特征为瘙痒、黄疸和肝功能异常。该疾病可能会与其他肝病误诊，其中一些可能会对胎儿健康产生影响。因此，建议实施快速诊断策略，以便为这些情况下的妊娠管理提供信息。我们报告了一例通过同源体外受精（IVF）怀有双胞胎的健康女性病例，该女性在妊娠晚期出现黄疸和不适。生化检查和肝脏高回声性引发了对妊娠期急性脂肪肝（AFLP）的怀疑。对三联体进行的非侵入性产前全外显子测序（WES）在该基因中鉴定出Phe305Ile杂合变异。考虑到双胞胎妊娠，该变异相对于野生等位基因的百分比为31%，表明仅母亲存在杂合性。该分析表明母亲患有妊娠期良性复发性肝内胆汁淤积症（ICP1：#147480），并提示有必要提前分娩以避免母亲健康状况恶化。双胞胎出生后的WES证实了分子数据。
