Work

Chromosome Y as a marker for sex discrepancies in patients with organ transplants: a case report

Year: 2021

Type: article

Abstract: BACKGROUND: Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce. CASE: A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan showed no structural alterations and the presence of female external genitalia. Post-clinical research revealed that the patient received a bone marrow transplant from a male donor several years before. Fluorescence in situ hybridization showed that 100% of nuclei analysed from the patient's lymphocytes presented a ChrY. CONCLUSION: This case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants.

Source: Molecular Cytogenetics

DOI: 10.1186/s13039-020-00523-0

Authors: Nuria Balaguer, Emilia Mateu-Brull, Roy P. Naja, Jara B. Nagi, Miguel Milán

Institutions: Igenomix, The Centre for Reproductive & Genetic Health

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,790