PMID- 12728455 OWN - NLM STAT- MEDLINE DCOM- 20030529 LR - 20041117 IS - 0513-5796 (Print) IS - 0513-5796 (Linking) VI - 44 IP - 2 DP - 2003 Apr 30 TI - Prenatal diagnosis of fetal trisomy 21 from maternal peripheral blood. PG - 181-6 AB - This study was undertaken to establish a noninvasive prenatal genetic diagnostic method for trisomy 21 using the fetal nRBCs that is rarely present in maternal circulation. Peripheral venous blood samples were collected from 30 women with an advanced maternal age, abnormal triple marker test results, or abnormal ultrasound findings such as an increased nuchal translucency. The blood samples were treated with heparin. The triple density gradient centrifugation, and MACS using CD45 and CD71 were used to isolate the fetal cells. FISH analysis using probe 21 was performed with GPA-immunostaining. The study population consisted of 30 patients from 13 to 25 weeks of gestation, and nRBCs were separated in all cases. In GPA-immuno FISH analysis using probe 21, 3 cases of trisomy 21 were diagnosed and these results were confirmed by the amniocentesis. In conclusion, a prenatal diagnosis of trisomy 21 through GPA- immuno fluorescence in situ hybridization (FISH) analysis using separated fetal nRBCs is a useful, innovative, accurate, rapid and non-invasive diagnostic method. FAU - Yang, Young Ho AU - Yang YH AD - Department of Obstetrics and Gynecology, Yonsei University College of Medicine, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-752, Korea. ob@yumc.yonsei.ac.kr FAU - Kim, Sung Hoon AU - Kim SH FAU - Yang, Eun Suk AU - Yang ES FAU - Kim, Sei Kwang AU - Kim SK FAU - Kim, In Kyu AU - Kim IK FAU - Park, Yong Won AU - Park YW FAU - Cho, Jae Sung AU - Cho JS FAU - Lee, Yoon Ho AU - Lee YH LA - eng PT - Journal Article PL - Korea (South) TA - Yonsei Med J JT - Yonsei medical journal JID - 0414003 SB - IM MH - Adolescent MH - Adult MH - Down Syndrome/*diagnosis MH - Female MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Pregnancy/*blood MH - Prenatal Diagnosis/*methods EDAT- 2003/05/03 05:00 MHDA- 2003/05/30 05:00 CRDT- 2003/05/03 05:00 PHST- 2003/05/03 05:00 [pubmed] PHST- 2003/05/30 05:00 [medline] PHST- 2003/05/03 05:00 [entrez] AID - 200304181 [pii] AID - 10.3349/ymj.2003.44.2.181 [doi] PST - ppublish SO - Yonsei Med J. 2003 Apr 30;44(2):181-6. doi: 10.3349/ymj.2003.44.2.181.