Medical Professional/Scholar Statement of Support
“Expectant parents deserve accurate and up-to-date information about Down syndrome. We endorse “Understanding a Down Syndrome Diagnosis” as the most balanced material that healthcare providers should provide to expectant parents following a prenatal diagnosis. This material was uniquely prepared with assistance from The Down Syndrome Consensus Group, including representatives of the American Congress of Obstetricians and Gynecologists, American College of Medical Genetics and Genomics, the National Society of Genetic Counselors,and the national Down syndrome organizations.”
As medical professionals and scholars, we further encourage non-invasive screening test companies to distribute complimentary copies of this resource to ordering providers so that expectant parents have access to accurate and up-todate information about Down syndrome as soon as possible following a test result that suggests a positive diagnosis.
- Jennifer Meyers Bekins, MS, CCC-SLP Speech-Language Pathologist, The Thomas Center for Down Syndrome, Cincinnati Children’s Hospital Medical Center
- Elizabeth Boatwright, MD, MDiv, Chair, Research Committee, Down Syndrome Network Arizona
- Patricia Bornick RNC, MSN, Fetal Care Center of Tampa Bay Tampa General Hospital
- Campbell K. Brasington, MS, CGC, Genetic Counselor and Clinical Coordinator for the Down Syndrome Clinic at Carolinas Medical Center
- Frank Buckley, CEO, Down Syndrome Education International
- Chantalle Buhl, MS, CGC, Certified Genetic Counselor
- John C. Carey, MD, MPH
- Sarah Colosimo, MS, CGC, Certified Genetic Counselor
- Nevena Cvjetkovic, MS, CGC, Certified Genetic Counselor
- Wendy DiNonno, MS, CGC, Certified Genetic Counselor
- Anne Marie Dolinish-Meltzer, RN, BSN, Clinical Coordinator, Eastern PA Down Syndrome Center
- Martha Dudek, MS, CGC, Senior Associate in Obstetrics and Gynecology, Vanderbilt University School of Medicine
- George H. Durham II, MD, FAAP
- Steven M. Eidelman, H. Rodney Sharp Professor of Human Services Policy and Leadership, Department of Human Development and Family Studies, College of Education and Human Development and Faculty Director, The National Leadership Consortium on Developmental Disabilities, University of Delaware
- Richard Ferrante, PhD, Co- Chair, Down Syndrome Consensus Group
- Jill Fonda, MS, CGC, Certified Genetic Counselor
- Janis Gonzales MD, MPH, FAAP, Medical Director, Children’s Medical Services, New Mexico Department of Health
- James E. Hunt, MD, Coordinator, Special Needs Anesthesia Services, UAMS
- George Jesien, PhD, Executive Director, Association of University Centers on Disabilities (AUCD)
- Harold Kleinert, EdD, Executive Director, University of Kentucky Human Development Institute
- Clarissa Kripke, MD, Clinical Professor, UCSF Family and Community Medicine
- Terri Lefler, MS, CGC, Certified Genetic Counselor
- Len Leshin, MD, Pediatrician and Editor of Down Syndrome: Health Issues (ds-health.com)
- Joanne Mackey, RN, MSN, CPNP, Down Syndrome Clinic, Duke University Medical Center
- Nirupama Madduri, MD, Assistant Professor of Pediatrics, Division of Developmental Medicine, Vanderbilt University
- Jessica McCannon, MD, Physician, Down Syndrome Program, Massachusetts General Hospital
- Melanie McDermet, MS, CGC, Certified Genetic Counselor
- Dipankar Mukhopadhyay, MD, Pediatrician
- Joanne Nguyen, MD
- Kathryn K.Ostermaier MD, FAAP, Medical Director of the Down Syndrome Clinic of Houston, Assistant Professor of Pediatrics, Baylor College of Medicine/Texas Children’s Hospital
- Randall Phelps, MD, PhD, Developmental and Behavioral Pediatrician, Child Development and Rehabilitation Center Institute on Development and Disability, Oregon Health and Science University
- Amber Peterson, MS Certified Genetic Counselor
- Alison Piepmeier, PhD, Director of Women’s and Gender Studies, College of Charleston
- Mary Pipan, MD, Clinical Director, Trisomy 21 Program, The Children’s Hospital of Philadelphia
- Daniel Riconda, MS, CGC, Certified Genetic Counselor
- Nancy Roizen, MD, Director, Down Syndrome Clinic, UH/Rainbow Babies and Children’s Hospital
- Kim Schadt, MSN, CRNP, CCRP, Assistant Director, Trisomy 21 Program, The Children’s Hospital of Philadelphia
- Allie Schwartz, MD, Co-Director, Down Syndrome Program, Massachusetts General Hospital
- Brian Skotko, MD, MPP, Co-Director, Down Syndrome Program, Massachusetts General Hospital
- David S. Smith, MD, Director, Down Syndrome Clinic of Wisconsin
- Quinn Stein, MS, CGC, Senior Genetic Counselor, Sanford Health, Sioux Falls, SD
- Nasreen Talib, MD MPH, Medical Director Down Syndrome Clinic Program, Children Mercy Hospital, Kansas City MO
- Angela Trepanier, MS, CGC, Co-Director, Genetic Counseling Program, Wayne State University
- Tracy L. Trotter, MD, FAAP, Pediatrician
- Janice Zunich, MD, Director, Genetics Center, Indiana University School of Medicine — Northwest
American College of Medical Genetics and Genomics (ACMG) Statement on Noninvasive Prenatal Screening for Fetal Aneuploidy (2016)
“Understanding a Down Syndrome Diagnosis” and “Understanding Turner Syndrome Diagnosis” are listed resources recommended in the ACMG guidelines.
“Accurate, up-to-date, and balanced information about Down
syndrome (or other tested conditions) should be provided.
There are a number of resources available (see Resources).
Lettercase: The National Center for Prenatal and Postnatal Resources (http://www.lettercase.org). Lettercase ofers professionally reviewed materials about genetic conditions. Currently, “Understanding a Down Syndrome Diagnosis” and “Understanding a Turner Syndrome Diagnosis” are available in print and digital versions in several languages. he materials are intended for expectant couples who have received a prenatal diagnosis of Down or Turner syndrome but have not yet made a decision regarding their pregnancy options. The materials are prepared with assistance from the ACMG, ACOG, NSGC, and national patient advocacy organizations.
How can I find a genetic counselor?
Genetic counselors are health care professionals with specialized training in cfDNA screening and the psychosocial complexities surrounding genetic testing and screening. They can help you explain these results to your patient, help your patient understand the genetic condition and facilitate a decision about further testing. A genetic counselor can be located using the “Find a Genetic Counselor” link on the nsgc.org website. You can also find more information about individual genetic conditions and national advocacy organizations for these conditions at www.lettercase.org/prenataltesting/ .