MaterniT21™ Noninvasive prenatal test for trisomy 21 (Down Syndrome)
Record ID 32012000122
English
Authors' recommendations:
Trisomy 21 (Down syndrome), a chromosomal disorder caused by the presence of an extra copy of chromosome 21 (three copies instead of two), occurs in approximately 1 in 700 live births. However, the risk of having a child with trisomy 21 or other aneuploidy (a deviation from an exact multiple of the haploid number of chromosomes) increases with a mother's age. An increased risk of trisomy 21 is a common reason couples present for prenatal diagnosis. Conventional prenatal diagnosis (i.e., karyotype analysis after chorionic villus sampling [CVS] or amniocentesis) can definitively diagnose fetal trisomy 21 or other aneuploidy, although these invasive procedures are associated with a risk of miscarriage between 0.1% and 1% (depending on the procedure and who performs it). Screening procedures, such as first-trimester screening, maternal serum biochemical marker screening, and detailed ultrasound evaluation, may identify women with an increased risk of having a child with trisomy 21 or other aneuploidy. However, screening tests are used only to stratify risk and cannot be used to establish the diagnosis of a specific chromosomal disorder. Current standard of care involves offering aneuploidy screening to all pregnant women, and offering a fetal karyotype analysis (after CVS or amniocentesis) to those with a high risk of having a child with chromosomal aneuploidy. The MaterniT21 assay, a new test designed to detect fetal trisomy 21 in a noninvasive manner, capitalizes on the presence of cell-free fetal DNA in maternal plasma during pregnancy. The test utilizes massively parallel DNA sequencing (simultaneous sequence analysis of millions of genomic DNA fragments) to detect an increase in chromosome 21 representation in cell-free DNA present in a pregnant woman's plasma. Millions of DNA fragments (maternal and fetal) are sequenced and the number of sequences specific to each chromosome is determined. It is expected that, since fetuses with trisomy 21 have an extra copy of chromosome 21, the proportion of sequence fragments representing this chromosome should be elevated.
Details
Project Status:
Completed
Year Published:
2011
URL for published report:
http://www.hayesinc.com/hayes/crd/?crd=13320
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Prenatal Diagnosis
- Pregnancy
Contact
Organisation Name:
HAYES, Inc.
Contact Address:
157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
saleinfo@hayesinc.com
Contact Email:
saleinfo@hayesinc.com
Copyright:
2011 Winifred S. Hayes, Inc
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