Prenatal diagnosis of spinal muscular atrophy by genetic analysis of circulating fetal cells

Lancet

Volumn 361, Issue 9362, 2003, Pages 1013-1014

  Beroud C ^a   Karliova, M ^b   Bonnefont, J P ^a   Benachi, A ^a   Munnich, A ^a   Dumez, Y ^a   Lacour, B ^a   Paterlini Brechot P ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN; PROTEIN SMN1; UNCLASSIFIED DRUG;

ARTICLE; CELL ISOLATION; CLINICAL ARTICLE; CONTROLLED STUDY; EARLY DIAGNOSIS; FEMALE; FETUS; FETUS CELL; GENETIC SCREENING; HUMAN; HUMAN CELL; MATERNAL BLOOD; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SENSITIVITY AND SPECIFICITY; SPINAL MUSCULAR ATROPHY;

EID: 0037460809     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)12798-5     Document Type: Article

References (5)

1. Lefebvre S., Burglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80:1995;155-165.
2. Bianchi D. Fetal cells in the maternal circulation: feasibility for prenatal diagnosis. Br J Haematol. 105:1999;574-583.
3. Vona G., Beroud C., Benachi A., et al. Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal blood. Am J Pathol. 160:2002;51-58.
4. Saugier-Veber P., Drouot N., Lefebvre S., et al. Detection of heterozygous SMN1 deletions in SMA families using a simple fluorescent multiplex PCR method. J Med Genet. 38:2001;240-243.
5. Chan V., Lau K., Yip B., Sin S., Cheung M., Kan Y. Diagnosis of spinal muscular atrophy from fetal normoblasts in maternal blood. Lancet. 352:1998;1196-1198.