NIH FASTER Study Concludes First Trimester Screening Is Better Than Second Trimester Down Syndrome Screening.

CHAPEL HILL, N.C. -- First trimester Nuchal Translucency/freeBeta/PAPP-A prenatal screening for Down syndrome has been confirmed by the NIH FASTER Study (NEJM 2005;353:2001) to be more effective than second trimester screening methods. Dr. Joe Leigh Simpson, author of the editorial (NEJM 2005; 353:19) concluded "First- trimester screening is thus clearly superior to screening in the second trimester. The gap would probably widen if the assessment of the nasal bone becomes incorporated in risk estimates". First trimester NT/freeBeta/PAPP-A is provided by GeneCare and was recognized as an option for all pregnant women by the American College of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics (ACMG) and the NIH in 2004.

The study was performed on 33,546 patients at 10 weeks 3 days - 13 weeks 6 days. Nuchal Translucency (NT) ultrasound measurements were combined with freeBeta hCG and PAPP-A blood proteins tests. In the study first trimester NT/freeBeta/PAPP-A screening detected 86% of Down syndrome pregnancies at a 5% false positive rate. These results confirmed 23 previously published studies of over 230,000 patients. The accepted detection rate for Down syndrome is 91% at 5% false positive rate based on all studies. GeneCare also incorporates Nasal Bone (NB) which raises detection to 95% at 2% false positive rate. First Trimester NT/NB/freeBeta/PAPP-A screening offers the earliest and safest prenatal screening for Down syndrome, trisomy 18/13, 40% of fetal heart defects, many other anomalies and perinatal risk.

The real significance of this consensus is that NT/NB/freeBeta/PAPP-A screening provides the most effective pregnancy management in the first trimester to improve birth defects detection and provide patients with the earliest and safest options. NT/freeBeta/PAPP-A, referred to as Early Screen(R), is available to all pregnant patients throughout the USA and is provided by sonographers and physicians who have Fetal Medicine Foundation special training and certificates for nuchal translucency measurement.

Patients have responded through published surveys that they strongly prefer first trimester screening for privacy and improved healthcare. It is now appropriate to offer NT/NB/freeBeta/PAPP-A prenatal screening to all low risk patients as well as to increased risk patients who decline amniocentesis. Patients should be aware that prenatal screening is not a substitute for diagnostic amniocentesis or CVS testing.

GeneCare provides FMF USA NT and NB training courses to physicians, sonographers and other prenatal healthcare providers through nonprofit courses listed at www.genecare.com. To find an FMF NT and NB certificate provider of Early Screen(R) call GeneCare at [phone] or email at [e-mail].