Packed red cell transfusion does not compromise chromosome analysis in newborns

Abstract

Purpose: Critically ill neonates are frequently transfused with packed red cells. Some of these transfused neonates also need chromosome analysis. There is a long-standing tradition in pediatrics of not performing chromosome analysis after transfusion. We wished to determine whether transfusion with packed red cells affect the cytogenetic results in neonates. Method: The medical records of all neonates at the Medical College of Georgia who had had chromosome analysis between June 1995 and June 1998 were reviewed. Ten neonates had received transfusion prior to cytogenetic testing. Of these 10 infants, two had been transfused two or more times. Routine cytogenetic analysis of 20 metaphases at 550-band level had been performed on all 10 patients. Heteromorphic markers were compared in 10 randomly selected metaphases for any discrepancy. To determine whether there were theoretical reasons to delay chromosome analysis in transfused neonates, samples of irradiated, and/or filtered, and nonfiltered blood were obtained from the blood bank and analyzed for the presence of lymphocytes. Results: Prior transfusion did not affect karyotype results. A nonmosaic abnormal karyotype was found in 3 of the 10 patients.A fourth patient's karyotype was 45,X/47,XXX. This mosaicism was constitutive and consistent as demonstrated by a follow-up chromosome analysis. All other abnormal karyotypes were consistent with the dysmorphic phenotype. Randomly selected metaphases did not show any differences in the identifiable heteromorphic markers in all 10 patients. Although there was a 50% chance of patients receiving blood from a donor of opposite sex, there were no instances in which cells with a karyotype of the opposite sex were found in the patients' blood. The irradiated and filtered cultured donor blood samples did not show any metaphases. However, metaphases were seen in the cultures from nonfiltered and nonirradiated donor blood. Conclusions: Based on these results one does not need to delay karyotyping babies who have had blood transfusions. Packed red cell transfusion in newborns does not compromise the accuracy of chromosome analysis in our study even with multiple transfusions. Genetics in Medicine, 2001:3(4):314 -317.

Fluorescence in situ hybridization and chromosome studies after transfusion in newborns: Is a waiting period necessary?

“…In a retrospective study, Kulharya et al 8 reviewed the medical records of 10 newborn infants who had received blood transfusions between 1 to 10 days before routine cytogenetic analysis. Three infants received irradiated and leukodepleted blood, four infants received irradiated blood, and three infants received blood that was neither irradiated nor leukodepleted.…”

“…Because there were no instances where cells with a karyotype of the opposite sex were detected in the neonates' blood samples, the authors concluded PRBC transfusions did not compromise the accuracy of chromosome analysis. 8 Because this study was retrospective, there was no documentation on which patients received blood from opposite sex donors. The authors concluded that the likelihood of study patients receiving blood from a donor of the opposite sex was 50% based on the 1:1 male to female donor ratio in the blood bank.…”

Red Blood Cell Donor Sex Associated Effects on Morbidity and Mortality in the Extremely Preterm Newborn

“…Initially focusing on transfusion-related acute lung injury (TRALI) following plasma and platelet transfusion from a female donor, recent observational studies have also highlighted similarly increased mortality in transfusion recipients of RBCs from female donors [ 26 , 27 , 28 ]. While the effects of donor characteristics, including donor sex, on transfusion outcomes has been systematically reviewed [ 29 ], this meta-analysis of all patient groups included only two studies in newborns [ 30 , 31 ].…”

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

“…In studies of cytogenetic testing following of irradiated, leukodepleted, packed red blood cells, no donor chromosomes were found in downstream analysis, suggesting that there is limited evidence to support delaying genetic testing following transfusion. 15,16 •…”