PMID- 11424143
OWN - NLM
STAT- MEDLINE
DCOM- 20010726
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 101
IP  - 3
DP  - 2001 Jul 1
TI  - Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and 
      analysis of fetal cells from maternal blood.
PG  - 262-7
AB  - The isolation and analysis of nucleated fetal cells (NFCs) from maternal blood 
      may represent a new approach to noninvasive prenatal diagnosis. Although 
      promising, these techniques require highly accurate separation of NFCs from 
      nucleated cells of maternal origin; the two major problems limiting these 
      techniques are the relative rarity of fetal cells in maternal blood and the need 
      to establish their fetal origin. We now report a novel procedure that has allowed 
      accurate separation of NFCs from maternal cells. The technique reported involves 
      direct micromanipulator isolation of histochemically identified hemoglobin 
      F-positive nucleated cells to obtain fetal nucleated red blood cells (FNRBCs) of 
      high yield and purity. Using this technique, followed by cell-by-cell multicolor 
      fluorescence in situ hybridization (FISH) analysis of purified FNRBCs, we were 
      able to detect some of the most common human aneuploidies (including Down 
      syndrome, Klinefelter syndrome, and trisomy 13) in 33 pregnant women referred for 
      amniocentesis. The procedure used, which can be completed in <72 hrs, produced 
      complete concordance with the results of amniocentesis. We also confirm findings 
      of prior studies suggesting that the number of FNRBCs in maternal circulation is 
      remarkably higher in abnormal pregnancies than in normal pregnancies, especially 
      in women carrying a fetus with trisomy 21.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Parano, E
AU  - Parano E
AD  - Institute of Bioimaging and Physiopathology of the Central Nervous System 
      (IBFSNC), The National Research Council of Italy (CNR), Catania, Italy. 
      parano@mbox.unict.it
FAU - Falcidia, E
AU  - Falcidia E
FAU - Grillo, A
AU  - Grillo A
FAU - Pavone, P
AU  - Pavone P
FAU - Cutuli, N
AU  - Cutuli N
FAU - Takabayashi, H
AU  - Takabayashi H
FAU - Trifiletti, R R
AU  - Trifiletti RR
FAU - Gilliam, C T
AU  - Gilliam CT
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 9034-63-3 (Fetal Hemoglobin)
SB  - IM
MH  - *Aneuploidy
MH  - Erythrocytes/chemistry/metabolism
MH  - Female
MH  - Fetal Hemoglobin/analysis
MH  - Fetus/cytology/*metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy/*blood
MH  - Prenatal Diagnosis/*methods
EDAT- 2001/06/26 10:00
MHDA- 2001/07/28 10:01
CRDT- 2001/06/26 10:00
PHST- 2001/06/26 10:00 [pubmed]
PHST- 2001/07/28 10:01 [medline]
PHST- 2001/06/26 10:00 [entrez]
AID - 10.1002/ajmg.1350 [pii]
AID - 10.1002/ajmg.1350 [doi]
PST - ppublish
SO  - Am J Med Genet. 2001 Jul 1;101(3):262-7. doi: 10.1002/ajmg.1350.