PMID- 16374897 OWN - NLM STAT- MEDLINE DCOM- 20060425 LR - 20191210 IS - 0197-3851 (Print) IS - 0197-3851 (Linking) VI - 26 IP - 1 DP - 2006 Jan TI - Quantification of fetal nucleated cells in maternal blood of pregnant women with a male trisomy 21 fetus using molecular cytogenetic techniques. PG - 28-34 AB - BACKGROUND: Prenatal diagnosis of trisomy 21 is based on fetal karyotyping generally obtained using invasive methods. During pregnancy, the circulating fetal cells in maternal blood constitute a potential source for development of a noninvasive prenatal diagnosis. The objective of this study was the identification and quantification of all fetal nucleated cells per unit volume of peripheral blood of pregnant women carrying male fetuses with trisomy 21 using molecular cytogenetic techniques. METHODS: Peripheral blood samples were obtained from 16 women carrying male fetuses with trisomy 21. We used a simple and rapid method of harvesting blood without recourse to any enrichment procedures or cell-separation techniques. To evaluate the potential of this method, 16 specimens were analyzed by molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) and primed in situ labeling (PRINS) using specific probes to chromosomes X, Y and 21. RESULTS: The number of fetal cells varied between 6 and 32 per mL of maternal blood. This number is 3-5 times higher than that from normal pregnancies. CONCLUSIONS: Our current results are in agreement with the results previously reported by other groups showing that the number of fetal cells in maternal blood in trisomic 21 pregnancies is higher than in normal pregnancies. This high number of fetal cells is regarded as an advantage for the development of a noninvasive prenatal diagnostic test. CI - 2006 John Wiley & Sons, Ltd. FAU - Krabchi, Kada AU - Krabchi K AD - Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Quebec, Canada. FAU - Gadji, Macoura AU - Gadji M FAU - Samassekou, Oumar AU - Samassekou O FAU - Gregoire, Marie-Chantal AU - Gregoire MC FAU - Forest, Jean-Claude AU - Forest JC FAU - Drouin, Regen AU - Drouin R LA - eng PT - Evaluation Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Prenat Diagn JT - Prenatal diagnosis JID - 8106540 SB - IM MH - Adult MH - Chromosomes, Human, Pair 21/chemistry MH - Chromosomes, Human, X/chemistry MH - Chromosomes, Human, Y/chemistry MH - *Cytogenetic Analysis MH - Down Syndrome/blood/*diagnosis MH - Erythroblasts/*chemistry MH - Female MH - Fetal Blood/*cytology MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Predictive Value of Tests MH - Pregnancy MH - *Prenatal Diagnosis MH - Primed In Situ Labeling MH - Sensitivity and Specificity EDAT- 2005/12/24 09:00 MHDA- 2006/04/28 09:00 CRDT- 2005/12/24 09:00 PHST- 2005/12/24 09:00 [pubmed] PHST- 2006/04/28 09:00 [medline] PHST- 2005/12/24 09:00 [entrez] AID - 10.1002/pd.1325 [doi] PST - ppublish SO - Prenat Diagn. 2006 Jan;26(1):28-34. doi: 10.1002/pd.1325.