Society guideline links: Down syndrome

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: Prenatal screening and diagnosis".)

International

●Global Down Syndrome Foundation (GLOBAL): Medical care guidelines for adults with Down syndrome (2020)

●GLOBAL: Medical care of adults with Down syndrome – A clinical guideline (2020)

●International Society for Prenatal Diagnosis (ISPD): Position statement for cell free (cf)DNA screening for Down syndrome in multiple pregnancies (2020)

●International Society of Ultrasound in Obstetrics and Gynecology (ISUOG): Updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice (2017)

●ISPD: Position statement from the chromosome abnormality screening committee (2015)

Canada

●Choosing Wisely Canada: Don't order a chromosome analysis by doing a karyotype for individuals with intellectual disability/developmental delay of unknown etiology (2017, updated 2021)

●Choosing Wisely Canada: Don't use non-invasive prenatal detection of fetal aneuploidies by cell-free DNA as a diagnostic test (2017, updated 2021)

●Society of Obstetricians and Gynaecologists of Canada (SOGC): Committee opinion – Prenatal testing after IVF with preimplantation genetic testing for aneuploidy (2020)

●SOGC: Guidelines on prenatal screening for fetal aneuploidy in singleton pregnancies (2017)

●SOGC and Canadian College of Medical Geneticists (CCMG): Guidelines on prenatal screening for and diagnosis of aneuploidy in twin pregnancies (2017)

●SOGC-CCMG: Joint guideline on prenatal screening for fetal aneuploidy, fetal anomalies, and adverse pregnancy outcomes, update (2017)

United States

●Society for Maternal-Fetal Medicine (SMFM): Statement on maternal serum cell-free DNA screening in low risk women

●American Academy of Pediatrics (AAP): Clinical report on health supervision for children and adolescents with Down syndrome (2022)

●Centers for Disease Control and Prevention (CDC): Quick Reference Handbook – Chromosomal abnormalities: Trisomy 21 (Down syndrome) (reviewed 2021)

●Choosing Wisely: Don't order serum aneuploidy screening after cfDNA aneuploidy screening has already been performed (2016, updated 2021)

●SMFM: Consult series for the evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester (2021)

●American Academy of Child and Adolescent Psychiatry (AACAP): Practice parameter for the assessment and treatment of psychiatric disorders in children and adolescents with Intellectual Disability (Intellectual Developmental Disorder) (2020)

●American College of Obstetricians and Gynecologists (ACOG): Practice bulletin on screening for fetal chromosomal abnormalities (2020)

●American College of Radiology (ACR): ACR Appropriateness Criteria for nuchal translucency evaluation at 11 to 14 weeks gestational age (2020)

●ACR: ACR Appropriateness Criteria for second and third trimester screening for fetal anomaly (2020)

●Choosing Wisely: Don't recommend diagnostic testing following sonographic identification of an isolated echogenic intracardiac focus (EIF) or choroid plexus cyst (CPC) in women with low-risk aneuploidy screening results (2019)

●ACOG: Practice bulletin on prenatal diagnostic testing for genetic disorders (2016)

●ACOG: Practice bulletin on screening for fetal aneuploidy (2016)

●American College of Medical Genetics and Genomics (ACMG): A position statement on noninvasive prenatal screening for fetal aneuploidy, update (2016)

●National Society of Genetic Counselors (NSGC): Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome (2011, reclassified 2016)

●SMFM: Statement on clarification of recommendations regarding cell-free DNA aneuploidy screening (2015)

•SMFM: Committee opinion on cell-free DNA screening for fetal aneuploidy (2015)

●Choosing Wisely: Don't offer noninvasive prenatal testing (NIPT) to low-risk patients or make irreversible decisions based on the results of this screening test (2014)

●ACMG: Practice guidelines on screening for fetal aneuploidy and neural tube defects (2009)

United Kingdom

●Down's Syndrome Association (DSA): Annual health check guidelines

●The Down Syndrome Medical Interest Group (DSMIG) UK and Ireland: Thyroid disorder in children and young people with Down syndrome – Surveillance and when to initiate treatment (2020)

Australia-New Zealand

●Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG): Prenatal screening and diagnostic testing for fetal chromosomal and genetic conditions (2018)