Abstract
BackgroundOrgan transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce.CaseA 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.ConclusionThis case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants.
Highlights
Organ transplantations cause discrepancy in results from cell-free Deoxyribonucleic acid (DNA) testing, but scientific literature is scarce.Case: A 33-year old gravida underwent cell-free DNA (cfDNA) testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream
We describe a case where foetal sex determination by noninvasive prenatal testing (NIPT) versus ultrasound screening was discrepant in a pregnant woman who had a bone marrow transplantation from a male donor
While organ transplants are uncommon in women requesting cfDNA testing, transplants have been reported as a source of incorrect foetal sex prediction [3, 14]
Summary
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. Balaguer et al Mol Cytogenet (2021) 14:3 mosaicism for sex chromosome abnormalities, maternal transplant from a male donor, disorders of sexual development, or other foetal abnormalities associated with anomalous or ambiguous external genitalia [5]. We describe a case where foetal sex determination by noninvasive prenatal testing (NIPT) versus ultrasound screening was discrepant in a pregnant woman who had a bone marrow transplantation from a male donor.
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