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Provenzano A, Farina A, Seidenari A, et al. Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder. Diagnostics (Basel). 2021;11(10)doi: 10.3390/diagnostics11101904.
Provenzano, A., Farina, A., Seidenari, A., Azzaroli, F., Serra, C., Della Gatta, A., Zuffardi, O., & Giglio, S. R. (2021). Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder. Diagnostics (Basel, Switzerland), 11(10), . https://doi.org/10.3390/diagnostics11101904
Provenzano, Aldesia, et al. "Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder." Diagnostics (Basel, Switzerland) vol. 11,10 (2021). doi: https://doi.org/10.3390/diagnostics11101904
Provenzano A, Farina A, Seidenari A, Azzaroli F, Serra C, Della Gatta A, Zuffardi O, Giglio SR. Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder. Diagnostics (Basel). 2021 Oct 14;11(10). doi: 10.3390/diagnostics11101904. PMID: 34679599; PMCID: PMC8534548.
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Diagnostics (Basel). 2021 Oct 14;11(10). doi: 10.3390/diagnostics11101904.

Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.

Diagnostics (Basel, Switzerland)

Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Della Gatta, Orsetta Zuffardi, Sabrina Rita Giglio

Affiliations

  1. Medical Genetics Unit, Department of Experimental and Clinical Biomedical Sciences "Mario Serio", University of Florence, 50139 Florence, Italy.
  2. Division of Obstetrics and Prenatal Medicine, IRCCS Sant'Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.
  3. Division of Internal Medicine, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  4. Department of Organ Failure and Transplantation, Sant'Orsola-Malpighi Hospital, Via Massarenti 9, 40138 Bologna, Italy.
  5. Medical Genetics Unit, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
  6. Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09126 Cagliari, Italy.

PMID: 34679599 PMCID: PMC8534548 DOI: 10.3390/diagnostics11101904

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

Keywords: exome sequencing; fetal cell free DNA; liver disorder; non-invasive WES

References

  1. NPJ Genom Med. 2019 Jul 4;4:15 - PubMed
  2. Biol Sex Differ. 2019 Nov 27;10(1):52 - PubMed
  3. J Hepatol. 2016 Apr;64(4):933-45 - PubMed
  4. Int J Mol Sci. 2018 Jan 22;19(1): - PubMed
  5. Hepatol Res. 2020 Sep;50(9):1015-1023 - PubMed
  6. Obstet Med. 2018 Sep;11(3):126-131 - PubMed
  7. Gut. 2005 Jun;54(6):829-34 - PubMed
  8. Obstet Gynecol. 2014 Jul;124(1):120-133 - PubMed
  9. Clin Gastroenterol Hepatol. 2014 Jan;12(1):109-13 - PubMed
  10. Lancet. 2019 Mar 2;393(10174):899-909 - PubMed
  11. Nature. 2020 Jun;582(7811):234-239 - PubMed
  12. Prenat Diagn. 2020 Jun;40(7):905-908 - PubMed
  13. IUBMB Life. 2017 Dec;69(12):978-984 - PubMed
  14. J Biol Chem. 2014 Nov 28;289(48):33543-56 - PubMed
  15. World J Gastroenterol. 2015 May 7;21(17):5183-90 - PubMed
  16. Hepatology. 2006 Jul;44(1):195-204 - PubMed
  17. Am J Gastroenterol. 2017 Aug;112(8):1342 - PubMed
  18. Med Sci Monit. 2018 Jun 15;24:4080-4090 - PubMed
  19. Expert Rev Gastroenterol Hepatol. 2020 Feb;14(2):127-135 - PubMed
  20. Hepatol Commun. 2020 Jan 06;4(2):145-156 - PubMed

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