The genetic approach to stillbirth : a "systematic review"

Dolanc Merc, Maja (author), Peterlin, Borut (author), Lovrečić, Luca (author)

Unexplained stillbirth is defined as a stillbirth with no known cause after the exclusion of common causes, including obstetric complications, infections, placental insufficiency or abruption, umbilical cord complications, and congenital abnormalities with or without known genetic cause. More than 60% of stillbirth cases remain unexplained. The aim of this systematic review was to investigate the known genetic causes of unexplained stillbirth cases and to evaluate the current position and future directions for the use of genetic and genomic testing in expanding the knowledge in this field. A systematic search through several databases was performed using the keywords genetics and stillbirths in humans. Different methods to detect various types of causal genetic aberrations have been used in the past decades, from standard karyotyping to novel methods such as chromosomal microarray analysis and next generation sequencing technologies. Apart from common chromosomal aneuploidies, a promising hypothesis about genetic causes included genes related to cardiomyopathies and channelopathies. However, these were tested in the research settings, since molecular karyotyping is currently the standard approach in the routine evaluation of genetic causes of stillbirth. Hereby, we provide evidence that expanding knowledge using novel genetic and genomic testing might uncover new genetic causes of unexplained stillbirth.

• Language: English
• Keywords: stillbirth, genetic approach, genetics, human
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2023
• Number of pages: Str. 1220-1228
• Numbering: Vol. 43, iss. 9
• PID: 20.500.12556/RUL-155806
• UDC: 575
• ISSN on article: 0197-3851
• DOI: 10.1002/pd.6354
• COBISS.SI-ID: 192912643
• Publication date in RUL: 19.04.2024

DOLANC MERC, Maja, PETERLIN, Borut and LOVREČIĆ, Luca, 2023, The genetic approach to stillbirth : a “systematic review.” Prenatal diagnosis [online]. 2023. Vol. 43, no. 9, p. 1220–1228. [Accessed 23 April 2025]. DOI 10.1002/pd.6354. Retrieved from: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=eng&id=155806

Record is a part of a journal

• Title: Prenatal diagnosis
• Shortened title: Prenat. diagn.
• Publisher: Wiley
• ISSN: 0197-3851
• COBISS.SI-ID: 26168320

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• Link: http://creativecommons.org/licenses/by-nc-nd/4.0/
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