Understand your pediatric patient's Down syndrome diagnosis

Resources that may be useful to providers who are providing services to new or expecting parents who have received a Down syndrome diagnosis.

Table of Contents

Screening and diagnosis for Down Syndrome

Agency for Healthcare Research & Quality (AHRQ) National Guideline Clearing House Guidelines for Screening for Fetal Chromosomal Abnormalities 2007
A comprehensive resource for practitioners including scope, methodology, recommendations, and evidence base

ACOG practice guidelines on screening for fetal chromosomal abnormalities, recommendations and supporting evidence

Noninvasive Prenatal Testing for Fetal Aneuploidy
ACOG Committee on Practice Bulletins. 2007. ACOG practice bulletin no. 77: Screening for fetal chromosomal abnormalities. Obstet Gynecol109:217–227.

ACMG statement on noninvasive prenatal screening for fetal aneuploidy
Anthony R. Gregg, MD, S.J. Gross, MD, R.G. Best, Phd, K.G. Monaghan, PhD, K. Bajaj, MD, B.G. Skotko, MD, B.H. Thompson, Md and M.S. Watson, Phd; are The Noninvasive Prenatal Screening Work Group of the American College of Medical Genetics and Genomics

National Institutes of Health (NIH)
Comprehensive resource regarding Down syndrome, screening, development and genetics and links to additional information including fact sheets in English and Spanish

Toward Concurrence: Understanding Prenatal Screening and Diagnosis of Down Syndrome from the Health Professional and Advocacy Community Perspectives
The University of South Carolina’s Genetic Counseling Program and the University’s Center for Disability Resources hosted a meeting of representatives of the National Down Syndrome Society (NDSS), National Down Syndrome Congress (NDSC), American College of Obstetricians and Gynecologists (ACOG), American College of Medical Genetics (ACMG), and National Society of Genetic Counselors (NSGC) with the goal to promote greater understanding of each organization’s perspective on prenatal screening and diagnosis as it relates to Down syndrome.

University of Kentucky, Interdisciplinary Human Development Institute
Resources for families and physicians including videos, and information on screening, diagnostic tests and evidence-based practices when delivering a diagnosis of Down syndrome.

Treatment and care for pediatric patients with Down syndrome

American Academy of Pediatrics
Health Supervision Guidelines for Individuals with Down syndrome, Pediatrics, Vol 128, No.2, August 1, 2011, pp 393-406

Down Syndrome Health Care Updates for the Primary Care Pediatrician
On-line course developed by Harvard Medical School

Down Syndrome — Health Issues, written or compiled by Len Leshin, M.D., F.A.A.P
Articles for families and health care providers about health issues that individuals with Down syndrome might be at risk for as well as general developmental information including dental care, toilet training, metabolic issues and ADHD.

Support and advocacy programs for children with Down syndrome

Boston Children's Hospital Down Syndrome Program
Resources for expectant and new parents including educational and health information, information on the condition, how to share the diagnosis and health care guidelines for individuals with Down syndrome.

Massachusetts Down Syndrome Congress
Statewide resource for Down syndrome information, advocacy and networking. MDSC offers free resources, information, training and Grand Rounds for new and expectant parents, health professionals, educators and the community-at-large. Site of the Parents' First Call Program, making connections for parents with a new diagnosis of Down syndrome with others who have had the same life experience. To refer a new or expectant parent with a First Call parent: call 800-664-MDSC (6372) or email scullen@mdsc.org.

Massachusetts General Hospital Down Syndrome Programs
Provides a multidisciplinary lifespan approach at four clinics serving individuals of all ages with Down syndrome.

Resources to help better educate families on their children's diagnosis

American Academy of Family Physicians
General overview and information, including fact sheets for families.

Centers for Disease Control & Prevention (CDC)
Facts about Down syndrome, what we know and don't know. Links to multiple resources, organization and research.

March of Dimes
Provides overview, definitions, information about co-morbid conditions, bibliography for clinicians and resources for families

Mayo Clinic - Rochester, MN
Overview and information about the condition, symptoms and causes, complications, treatment options and links. Provides a graphic of the genetic basis of Down syndrome

Medline Plus National Institutes of Health on-line Library
Definitions, current research and clinical trials, tutorials, links to multiple organizations. Information available in Spanish and English

Prenatal Diagnosis of Down Syndrome: A Systemic Review of Termination Rates (1995-2011)
Jamie L Natoli, et.al, Prenatal Diagnosis, Volume 32, 142-153, February 2012. A meta-analysis of studies looking at termination rates among women receiving a prenatal diagnosis of Down syndrome. Available at Wiley On-Line Library. Requires an account and login.

Pub Med US National Library of Medicine
Repository of articles on Down Syndrome, screening and health care provider practice

Understanding a Down syndrome diagnosis
Booklet compiled by the Down Syndrome Consensus Group with input from the National Society of Genetic Counselors, the American College of Medical Genetics and Genomics, the American College of Obstetricians and Gynecologists, the National Down Syndrome Society, and the National Down Syndrome Congress.