{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T08:51:22Z","timestamp":1769503882180,"version":"3.49.0"},"reference-count":21,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T00:00:00Z","timestamp":1634169600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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\u2019s health. WES after the birth of the twins confirmed the molecular data.<\/jats:p>","DOI":"10.3390\/diagnostics11101904","type":"journal-article","created":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T22:42:18Z","timestamp":1634251338000},"page":"1904","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4249-8412","authenticated-orcid":false,"given":"Aldesia","family":"Provenzano","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Department of Experimental and Clinical Biomedical Sciences \u201cMario Serio\u201d, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6862-1810","authenticated-orcid":false,"given":"Antonio","family":"Farina","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Prenatal Medicine, IRCCS Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Seidenari","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Prenatal Medicine, IRCCS Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3675-8545","authenticated-orcid":false,"given":"Francesco","family":"Azzaroli","sequence":"additional","affiliation":[{"name":"Division of Internal Medicine, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5555-0745","authenticated-orcid":false,"given":"Carla","family":"Serra","sequence":"additional","affiliation":[{"name":"Department of Organ Failure and Transplantation, Sant\u2019Orsola-Malpighi Hospital, Via Massarenti 9, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0367-5276","authenticated-orcid":false,"given":"Anna","family":"Della Gatta","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Prenatal Medicine, IRCCS Sant\u2019Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsetta","family":"Zuffardi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3954-326X","authenticated-orcid":false,"given":"Sabrina Rita","family":"Giglio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09126 Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1111\/hepr.13540","article-title":"Liver disease in pregnancy","volume":"24","author":"Sasamori","year":"2020","journal-title":"Hepatol. 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