First trimester prenatal testing for Down syndrome using nuchal translucency
Institute for Clinical Systems Improvement
Record ID 32003000549
English
Authors' objectives:
This review aims to assess the available evidence on the effectiveness of first trimester prenatal testing for Down syndrome using nuchal translucency.
Authors' recommendations:
With regard to First Trimester Prenatal Testing for Down Syndrome using Nuchal Translucency the ICSI Technology Assessment Committee finds:
Patients should receive genetic counseling for universal discussion concerning Down syndrome risk prior to testing and for discussion of abnormal results after testing.
Ultrasound (NT) and serum marker testing are inherently safe procedures; the risks are related to false positive and false negative results.
The triple and quadruple serum tests in the second trimester are well-established tests given accurate gestational dating and appropriate interpretation of the results. Triple and quadruple tests have a detection rate of approximately 60%-76% with a 5% false positive rate.
Currently, first trimester testing is not the standard of care in the United States. Training for NT measurements needs to be required and compliance with measurement standardizations must be monitored in order for NT to be an efficacious test. Also, given the lack of an adequate first trimester follow-up test, first trimester testing may not afford any reduction in risk with regard to the complex decision-making associated with terminating or continuing the pregnancy.
NT or the combined test in the first trimester have the potential to detect 64%-91% of Down syndrome cases with a 5% false positive rate. The positive predictive values for NT alone were 1.5%-5.8%. (Conclusion grade II) However, the efficacy and practicality of first trimester testing have not been proven.
Authors' methods:
Review
Details
Project Status:
Completed
URL for project:
http://www.icsi.org/index.asp
Year Published:
2002
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Pregnancy Trimester, First
- Ultrasonography, Prenatal
- Down Syndrome
- Neck
Contact
Organisation Name:
Institute for Clinical Systems Improvement
Contact Address:
8009 34th Avenue South, Suite 1200, Bloomington, MN, USA. Tel: +1 952 814 7060; Fax: +1 952 858 9675
Contact Name:
icsi.info@icsi.org
Contact Email:
icsi.info@icsi.org
Copyright:
Institute for Clinical Systems Improvement (ICSI)
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.