Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss

Autor:	Ludmila Volozonoka, Linda Gailite, Anna Miskova, Inga Kempa, Dmitrijs Perminov, Liene Kornejeva, Violeta Fodina
Rok vydání:	2020
Předmět:	0301 basic medicine medicine.medical_specialty Urology Early Pregnancy Loss Karyotype Aneuploidy Gestational Age Miscarriage Specimen Handling 03 medical and health sciences 0302 clinical medicine Predictive Value of Tests Pregnancy Maternal cell contamination medicine Humans Genetic Predisposition to Disease Genetic Testing Diagnostic Errors Genetic testing Comparative Genomic Hybridization 030219 obstetrics & reproductive medicine medicine.diagnostic_test business.industry Obstetrics fungi food and beverages Reproducibility of Results medicine.disease Abortion Spontaneous 030104 developmental biology Reproductive Medicine Products of conception Karyotyping Female business
Zdroj:	Systems biology in reproductive medicine. 66(6)
ISSN:	1939-6376
Popis:	The analysis of products of conception (POC) is clinically important to establish the cause of early pregnancy loss. Data from such analyses can lead to specific interventions in subsequent natural or assisted conceptions. The techniques available to examine the chromosomal composition of POC have limitations and can give misleading results when maternal cell contamination (MCC) is overlooked. The aim of this study was to develop a protocol for MCC assessment and to formulate POC material handling, testing, and reporting recommendations. Using array comparative genomic hybridization, we tested 86 POC samples, of which 47 sample pairs (DNA extracted from the POC sample and maternal DNA) were assessed for the presence of MCC. MCC was evaluated using an approach we developed, which exploited the genotyping of 14 STR, AMEL, and SRY loci. POC samples showing the clear presence of villi (63.9%) did not contain any signs of the maternal genome and can therefore be reliably tested using conventional methods. The proportion of 46,XX karyotype in the unselected sample batch was 0.39, which fell to 0.23 in visually good samples and was 0.27 in samples having no signs of contamination upon MCC testing. MCC assessment can rescue visually poor samples from being discarded or wrongly genotyped. We demonstrate here that classification based on visual POC material evaluation and MCC testing leads to predictable and reliable POC genetic testing outcomes. Our formulated recommendations covering POC material collection, transportation, primary and secondary processing, as well as the array of pertinent considerations discussed here, can be implemented by laboratories to improve their POC genetic testing practices. We anticipate our protocol for MCC assessment and recommendations will help reduce the misconception regarding the etiology of miscarried fetuses and foster informed decision-making by clinicians and patients dealing with early pregnancy loss.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86dcaf9923c737d8d26fdd7b9139cc6b https://pubmed.ncbi.nlm.nih.gov/33059488 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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