Screening for Down's Syndrome

September 14, 2006

Conference Coverage ACOG AAGL ASRM COGI FIGO ISGE SGO SMFM General Acronym Expander Associations and Societies Bibliography Conference Calendar Conference Coverage Contribute to OBGYN.net Discussion Forums Educational Tutorials Health News Headlines Medline Meet our Doctors & Practitioners Register Ultrasound Images Podcasts and WebcastsClick here to find out more! Advertisement Local Guides Alabama Alaska Arizona Arkansas California Colorado Connecticut DC Delaware Florida Georgia Hawaii Idaho Illinois Indiana Iowa Kansas Kentucky Louisiana Maine Maryland Massachusetts Michigan Minnesota Mississippi Missouri Montana Nebraska Nevada New Hampshire New Jersey New Mexico New York North Carolina North Dakota Ohio Oklahoma Oregon Pennsylvania Rhode Island South Carolina South Dakota Tennesee Texas Utah Vermont Virginia Washington West Virginia Wisconsin WyomingAdvertisement Conditions and Topic Areas Adhesions Breast Health and Breast Cancer Endometriosis Fibroids Gestational Diabetes Gynecological Oncology Infertility Menopause & Perimenopause Mesothelioma Osteoporosis Pelvic Pain Polycystic Ovary Syndrome Postpartum Depression Pregnancy & Birth Premenstrual Syndrome/Premenstrual Dysphoric Disorder(PMS/PMDD) Sex-Related Issues Urogynecology Weight Management Young Women Treatment and Procedures Contraception Fetal Monitoring Hysterectomy Hysterectomy Alternatives Hysterectomy Training Hysteroscopy In Vitro Fertilization (IVF) Laparoscopy Nursing Technology Ultrasound AdvertisementCurrent Medical Professional Forum Discussions no subject received Tue, 13 Sep 2011 12:20:52 -0400 Vicki Re: Postoperative Fever Dr Eberhard W Lisse Re: Stocking up on Pessaries yerra14091971 yerra14091971 Re: Pregnancy Quiz -Image 1 Gunjan Puri Re: Pregnancy Quiz -Image 1 Imran Waheed Educational Tutorials Robotic Surgery in Gynecology - Neena Agarwala, MD, MSc. F.A.C.O.G Heart Disease in Pregnancy - Dr. Mohamed El SherbinySubmit Your TutorialAdvertisementUltrasound Image Gallery and Case Studies Endometrial Stromal Sarcoma - Sushila Ladumor, MD Mayer-Rokitansky-Kuster-Hauser Syndrome in a 17-Year-Old Female - Keerthi Perera and Elmutasim Elkanzi Ductal Carcinoma in Situ - Stamatia Destounis, M.D.Event Calendar September 15: Reproductive Health 2011 by Association of Reproductive Health Professionals (ARHP) September 15: American Gynecological & Obstetrical Society 2011 Annual Meeting by American Gynecological & Obstetrical Society September 15: Mayo Clinic Nutrition in Health and Disease by Mayo Clinic - Mayo Foundation September 15: Reproductive Health 2011 by Association of Reproductive Health Professionals September 16: SURGICAL MASTERS COURSE IN TOTAL LAPAROSCOPIC HYSTERECTOMY by American College of Obstetricians and Gynecologists (ACOG) September 16: Hands-On Breast Ultrasound by Keith Mauney & Associates Ultrasound Training InstitutesPrint this pageOBGYN.net Conference CoverageFrom the AIUM 45th Annual Convention in Orlando, FL, March 11–14, 2001

3/12 2001
The afternoon scientific session on Ob anomalies was well-attended. The topic of the day was the use of Ultrasound as a screening tool for Down's Syndrome. Two presentations from Dr. Nyberg's group once again demonstrated the utility of sonographic "markers" to stratify risk. Since ultrasound markers and maternal serum screening are independent, the combination of ultrasound and biochemistry may prove a better testing scheme than either alone. This has been shown for the first trimester and Dr. Nyberg showed that this holds true for the second trimester as well. They also noted that fetal pyelectasis, found in about 5% of normal fetuses, did not show significance as a risk for Down's. Some markers, such as nuchal skin thickening, seems to vary in significance with gestational age, similar to the relationship of nuchal translucency in the first trimester. Dr. Souter, working with Nyberg's group, remarked that a "magic number" cut-off may miss some cases of Down's.

Dr. DeVore presented a stepwise testing scheme of serum screening followed by ultrasound in the high and moderate risk groups. Allowing several levels of sensitivity, this stepwise program theoretically seems more cost-effective and resulted in fewer procedure-related losses than utilizing either age alone or age and serum screening. Dr. Egan's group seemed to echo these findings in both the pregnancies having an increased maternal age-related risk and those women with a negative triple screen.

Dr. Carreno then presented data showing that certain markers, most notably echogenic intracardiac focus, may not have the same significance in certain ethnic groups - specifically Hispanics and Asians. Dr. Kovac's group then demonstrated the effect of ethnicity on femur length.

The use of ultrasound as a screening tool for aneuploidy is currently a matter of concern for the ultrasound community. The relationship of sonographic markers and Down's syndrome was first demonstrated in populations with high prevalence. Therefore, such a finding would have increased significance. Over the last decade, the number of individual markers has proliferated and their use has expanded into the low risk populations. A recent editorial by Roy Filly in the JIUM suggested that this practice may be a misuse of the technology. Additionally, two weeks ago in the JAMA, Smith-Bindman et al suggested that the performance of these markers may not be a effective as previously thought. Practitioners opine that now that this genie is out of the bottle, the omnipresent specter of lawsuit for failure to diagnose Down's syndrome, forces them to report all abnormal findings. A consensus development conference on the proper use of ultrasound for Down's syndrome screening will be held later this year. One can only hope that perhaps some firm direction in this contentious area will result.