Harmony™ Prenatal Test
Record ID 32013000115
English
Authors' recommendations:
Chromosomal abnormalities are genetic disorders that are responsible for approximately half of firsttrimester miscarriages. A common type of chromosomal abnormality is aneuploidy, in which there are one or more missing or extra chromosomes, or subunits of genetic material. Trisomy is a type of aneuploidy that results when there is an extra copy of a particular chromosome. The most common trisomy is trisomy 21 (T21, or Down syndrome), which occurs in approximately 1 in 800 live births. T21 increases in prevalence with advanced maternal age; among 25-year-old women, for example, the risk of having a child with T21 is one in 1300, while risk increases to 1 in 365 by age 35. The risk of other chromosomal abnormalities such as trisomy 18 (T18) and trisomy 13 (T13) also increases as maternal age increases. The presence of the extra chromosome in T21, T18, and T13 causes varying degrees of intellectual disability and abnormal physical development. Trisomy screening, which includes ultrasound evaluation and blood tests, and takes into account risk factors such as maternal age, can identify up to 90% of pregnancies at increased risk for T21 with a 5% false-positive rate. Positive results from trisomy screening require invasive testing for definitive diagnosis of chromosomal abnormality. Invasive testing is normally performed late in the first trimester or in the second trimester and carries a small risk of fetal injury or miscarriage. Due to these risks, the development of noninvasive testing methods is of great interest. The focus of this report is on the Harmony Prenatal Test, which analyzes fetal DNA present in a maternal blood sample to provide an estimation of risk for T21, T18, and T13.
Details
Project Status:
Completed
Year Published:
2012
URL for published report:
The report may be purchased from:http://www.hayesinc.com/hayes/crd/?crd=14315
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Humans
- Prenatal Diagnosis
- Pregnancy
- Genetic Testing
- Trisomy
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:
2012 Winifred S. Hayes, Inc
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.