Screening for Down Syndrome/Nuchal Translucency Ultrasound

In keeping with MFMA’s mission to provide leading edge services to referring physicians and their patients, we are pleased to announce improvements to our Down Syndrome/Nuchal Translucency screening program as of February 2007.

The American College of Obstetrics & Gynecology (ACOG) issued a Practice Bulletin in January 2007 entitled, “Screening for Fetal Chromosomal Abnormalities”. In this document ACOG recommended anueploidy screening for all obstetric patients, regardless of age, combining first trimester screening with second trimester screening. We have modified our services in order to uphold this newly announced standard.

Stepwise Sequential Screening is a two phased process that ultimately yields a higher detection rate by combining first and second trimester results. Initially, first trimester screening is performed using nuchal translucency ultrasound, maternal age, and first trimester serum markers. Women at high risk for fetal aneuploidy on first trimester screening can be offered genetic counseling and early invasive diagnostic testing. Women at low risk based on first trimester results can undergo the second part of the screening process, the Quad test, which can be obtained at their physician’s office. If these results are abnormal, the patient can then be offered genetic counseling and invasive diagnosis.

At MFMA (through our subsidiary, Carnegie Hill Imaging for Women), we have chosen to partner with NTD Laboratories and use their Ultra Screen Two Modified Stepwise Sequential Screening test (96% detection rate at a 2.1% false positive rate)1 for this program because we feel they offer many important advantages to physicians and patients.

First, NTD includes nasal bone assessment in first trimester screening increasing the overall sensitivity while decreasing the overall false positive rate.

Second, NTD is the only commercial laboratory using free Beta hCG in first trimester screening which also improves the detection rate.

Third, unlike other laboratories, NTD offers Instant Risk Assessment (IRA) for the first trimester screening portion of the test. Patients can have their blood sent to the lab prior to the ultrasound and receive their results on the same day as the nuchal translucency scan. Thus, if there is an abnormality, they can obtain immediate genetic counseling and immediate diagnostic testing (Chorionic Villous Sampling) if desired.

Our mission is to deliver the highest level of service and put leading edge technology into the hands of our referring physicians and their patients. In keeping with that goal, the following benefits are also available at Carnegie Hill Imaging for Women:

- On-site genetic counselors for all patients upon request.

- A staff of physicians and registered sonographers that are among the few professionals in the region certified by the Fetal Medicine Foundation to perform nasal bone assessment in nuchal translucency screening.

- Board certified Maternal Fetal Medicine Specialists available to perform Chorionic Villous Sampling and Amniocentesis.

- Full accreditation by the American Institute for Ultrasound in Medicine (AIUM). Referring physicians and their patients can be assured of the highest level of sophistication in diagnostic ultrasound at Carnegie Hill Imaging for Women.

- All sonograms are performed utilizing state-of-the-art, real time 3D scanners.

If you have any questions or suggestions about the new stepwise sequential program, please feel free to contact us.