Measuring fetal nuchal translucency thickness (code 76999) is a prenatal genetic testing procedure that is typically performed after the first trimester of pregnancy. However, as an option to assess the risk of having a child with Down Syndrome, fetal nuchal translucency testing in the first trimester is eligible when performed in conjunction with maternal serum markers quantitative human chorionic gonadotropin (code 84702) and pregnancy-associated plasma protein-A (PAPP-A)(code 84163). The patient should be adequately counseled prior to the procedure. 

Fetal nuchal translucency testing performed alone in the first trimester is considered experimental/investigational for all uses, including but not limited to screening for chromosomal abnormalities such as Down syndrome. The technique for measuring nuchal translucency and the criteria for defining increased nuchal translucency as the sole method of testing has not yet been standardized in the clinical setting. Additional short and long term studies involving larger numbers of patients are necessary to confirm the efficacy of first trimester nuchal translucency without serum markers before this modality can be accepted for routine clinical use.

A participating, preferred, or network provider can bill the member for services denied as experimental/investigational. 

Description

All fetuses have a layer of fluid on the back of the bodies between the skin and the underlying soft tissue. Babies with chromosomal and heart defects tend to have more fluid in this layer. This layer is translucent on ultrasound, and its thickness is measured at the level of the neck. 

Measuring fetal nuchal translucency thickness is an ultrasonic prenatal genetic testing procedure used to detect subcutaneous edema in the fetal neck. The fluid is measured between the inner aspect of the fetal skin and the outer aspect of soft tissue overlying the cervical spine or the occipital bone. Increased fetal nuchal translucency has been associated with chromosomal defects, most commonly Down syndrome, and other genetic syndromes, as well as abnormalities of the heart and great arteries, and a wide range of skeletal dysplasias. 

For additional guidelines on obstetrical ultrasound procedures, refer to Highmark Medical Policy Bulletin X-17.

NOTE:

This policy is designed to address medical guidelines that are appropriate for the majority of individuals with a particular disease, illness, or condition. Each person's unique clinical circumstances may warrant individual consideration, based on review of applicable medical records.

Under the Federal Employee Program, all services that utilize FDA-approved drugs, devices, or biological products are eligible when intended for the treatment of a serious or life-threatening condition and when medically necessary and appropriate for the patient’s condition. Fetal nuchal translucency testing is considered an eligible service when determined medically necessary based on the patient’s condition.

PRN References

02/2004, Fetal nuchal translucency considered experimental/investigational
02/2006, Coverage for fetal nuchal translucency revised

Committee Opinion of The American College of Obstetricians and Gynecologists’ Committee on Genetics, No, 223, October 1999

First-trimester screening for aneuploidy: Research or standard of care?, American Journal of Obstetrics and Gynecology, Vol. 182, March 2000

Sonographic screening for fetal aneuploidy: first trimester, Journal of Ultrasound in Medicine, Vol. 20, July 2001

National Blue Cross Blue Shield Medical Policy 4.01.14

American College of Radiology Practice Guideline for the Performance of Antepartum Obstetrical Ultrasound, October 2003

Conference Report: Highlights from the Society of Maternal-Fetal Medicine 24th Annual Clinical Meeting, February 2004

American College of Obstetrics and Gynecology Issues Position on First-Trimester Screening Methods, June 2004

Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities, American Journal of Obstetrics and Gynecology, Vol. 191, No. 1, July 2004

First- and midtrimester Down Syndrome screening and detection, Clinics in Perinatology, Vol. 31, No. 4, December 2004

Clinical Commentary: Report form the Society for Maternal-Fetal Medicine, American Journal of Obstetrics and Gynecology, Vol. 192, No. 5, May 2005

Prenatal Testing for Down Syndrome, The Female Patient, Vol. 30, June 2005