Related Experiment Video
Updated: Jan 19, 2026
Isolation and Transplantation of Hematopoietic Stem Cells HSCs
Published on: February 25, 2007
Prepregnancy Genetic Carrier Screening in Recipients of Hematopoietic Stem Cell Transplants
Ashley Aluko1, Emily Seidler, Alan Penzias
1Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, and Boston IVF, Waltham, Massachusetts.
Background:
Genetic carrier screening of individuals with a history of hematopoietic stem cell (HSC) transplant is not always straightforward.
Case:
We present the case of a couple who underwent prepregnancy genetic screening before fertility treatment. The genetics laboratory flagged the male partner's blood sample because there was a discrepancy between the sex of the patient and the sex chromosome markers, ultimately leading to the discovery of a prior HSC transplant.
Conclusion:
A history of HSC transplant may confound results of serum-based genetic carrier screening. Hematopoietic stem cell transplant recipients are at risk for misinterpreted genetic carrier screening because the results of such screening may not actually be reflective of their own DNA.
Related Concept Videos
20:38Isolation and Transplantation of Hematopoietic Stem Cells (HSCs)
08:53Competitive Transplants to Evaluate Hematopoietic Stem Cell Fitness
22:06Derivation of Hematopoietic Stem Cells from Murine Embryonic Stem Cells
06:39Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
06:41Isolation Method for Long-Term and Short-Term Hematopoietic Stem Cells
11:59Detection of Residual Donor Erythroid Progenitor Cells after Hematopoietic Stem Cell Transplantation for Patients with Hemoglobinopathies