The genetic approach to stillbirth : a "systematic review"

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

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.

• Jezik: Angleški jezik
• Ključne besede: stillbirth, genetic approach, genetics, human
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2023
• Št. strani: Str. 1220-1228
• Številčenje: Vol. 43, iss. 9
• PID: 20.500.12556/RUL-155806
• UDK: 575
• ISSN pri članku: 0197-3851
• DOI: 10.1002/pd.6354
• COBISS.SI-ID: 192912643
• Datum objave v RUL: 19.04.2024

Gradivo je del revije

• Naslov: Prenatal diagnosis
• Skrajšan naslov: Prenat. diagn.
• Založnik: Wiley
• ISSN: 0197-3851
• COBISS.SI-ID: 26168320

Licence

• Licenca: CC BY-NC-ND 4.0, Creative Commons Priznanje avtorstva-Nekomercialno-Brez predelav 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by-nc-nd/4.0/deed.sl
• Opis: Najbolj omejujoča licenca Creative Commons. Uporabniki lahko prenesejo in delijo delo v nekomercialne namene in ga ne smejo uporabiti za nobene druge namene.