20.500.12556/RUL-155806 The genetic approach to stillbirth a "systematic review" 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. stillbirth genetic approach genetics human true false true Angleški jezik Ni določen Članek v reviji 2024-04-19 09:03:39 2024-04-19 09:03:40 2024-04-20 03:50:05 0000-00-00 00:00:00 2023 0 0 Str. 1220-1228 iss. 9 Vol. 43 2023 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575 0197-3851 10.1002/pd.6354 192912643 Prenatal_Diagnosis_-_2023_-_Dolanc_Merc.pdf Prenatal_Diagnosis_-_2023_-_Dolanc_Merc.pdf 1 CC20DC0024FF73FE99AAD2C7162A8D4D cc0b0131013a84914da390c6f4f2bd293aef8a601faebf67129381847cd6f280 771386eb-fe1b-11ee-9e65-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=182904 https://obgyn.onlinelibrary.wiley.com/doi/10.1002/pd.6354 0 4f11f65e-fe1b-11ee-9e65-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=182903 Medicinska fakulteta 0 0 0