Down Syndrome / Trisomy 21: Clinical Findings and Prenatal Considerations
Learning Objectives and CME/Disclosure Information
This activity is intended for healthcare providers delivering care to women and their families.
After completing this activity, the participant should be better able to:
1. List common physical findings seen in Down syndrome 2. Counsel parents on what to expect regarding social interactions related to Down syndrome
Estimated time to complete activity: 0.25 hours
Susan J. Gross, MD, FRCSC, FACOG, FACMG
President and CEO, The ObG Project
Disclosure of Conflicts of Interest
Postgraduate Institute for Medicine (PIM) requires faculty, planners, and others in control of educational content to disclose all their financial relationships with ineligible companies. All identified conflicts of interest (COI) are thoroughly vetted and mitigated according to PIM policy. PIM is committed to providing its learners with high quality accredited continuing education activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.
The PIM planners and others have nothing to disclose. The OBG Project planners and others have nothing to disclose.
Faculty: Susan J. Gross, MD, receives consulting fees from Cradle Genomics, and has financial interest in The ObG Project, Inc.
Planners and Managers: The PIM planners and managers, Trace Hutchison, PharmD, Samantha Mattiucci, PharmD, CHCP, Judi Smelker-Mitchek, MBA, MSN, RN, and Jan Schultz, MSN, RN, CHCP have nothing to disclose.
Method of Participation and Request for Credit
Fees for participating and receiving CME credit for this activity are as posted on The ObG Project website. During the period from Dec 31 2017 through Jan 25 2023, participants must read the learning objectives and faculty disclosures and study the educational activity.
If you wish to receive acknowledgment for completing this activity, please complete the post-test and evaluation. Upon registering and successfully completing the post-test with a score of 100% and the activity evaluation, your certificate will be made available immediately.
For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service within 4 weeks.
Joint Accreditation Statement
In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and The ObG Project. Postgraduate Institute for Medicine is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physician Continuing Medical Education
Postgraduate Institute for Medicine designates this enduring material for a maximum of 0.25 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Continuing Nursing Education
The maximum number of hours awarded for this Continuing Nursing Education activity is 0.2 contact hours.
Other findings may not be apparent until postnatal life:
Dysmorphic features: epicanthal folds, single palmar crease, low set ears
Decreased muscle tone
Intellectual disability: usually in the mild (IQ ~70) to moderate range (IQ ~50)
Most individuals with Down syndrome can participate in numerous group and individuals activities, but may need some level of supervision throughout their lives
Individualized education programs can help children with Down syndrome reach their potential
Special education services at school can range from inclusion in the typical classroom with extra help to small group instruction
Hearing loss (up to 75%)
Sleep apnea (50-75%)
Eye disease, such as cataracts (50-70%)
Endocrine disease: thyroid, diabetes
Leukemia is slightly increased in this population, typically requiring lower doses of chemotherapy treatments
Plaques are frequently seen in older adults with Down syndrome (50+ years) but their presence does not mean that Alzheimer’s disease will necessarily develop – other treatable causes of decline are investigated first
Down syndrome (DS) is a condition caused by the presence of an extra chromosome (#21) at the time of conception. In 90% of cases, it is the result of nondisjunction during meiosis (Trisomy 21), which is usually a sporadic occurrence. In 4-5% of DS affected individuals a chromosomal imbalance is the cause, inherited from a parent who has a balanced karyotype (i.e. Robertsonian translocation). A small proportion of affected individuals, < 1%, are diagnosed with mosaic DS.
ACOG requires all women be offered prenatal screening (biochemical/cfDNA) or invasive testing (amniocentesis;CVS) to detect an increased risk for DS, or to diagnosis it, respectively
Children with Down syndrome are more similar to other children than they are different
Overall, this condition is present in approximately 1 in 800 live births. Risk increases with maternal age
At maternal age 25, the risk is 1/1250
At maternal age 35, the risk is 1/365
At maternal age 40, the risk is 1/110
At maternal age 45, the risk is 1/32
If there is a family history or previous DS pregnancy, refer for genetic counseling
Data is limited on obstetrical management of an ongoing pregnancy with trisomy 21
Increased risk of fetal loss (5.9%), growth restriction (17.5%) and anomalies (75.0%)
Non-reassuring fetal surveillance (35.9%) appears to be associated with placental insufficiency and not necessarily related to structural anomalies
Data suggests a role for antepartum surveillance
Note: ACMG provides healthcare professionals with open access ‘ACT Sheets’ to guide next steps following a positive NIPS report for trisomy 21 (see ‘Learn More – Primary Sources’ below)
OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.
Disclosure of Unlabeled Use
This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.
The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.
Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.
Jointly provided by
NOT ENOUGH CME HOURS
It appears you don't have enough CME Hours to take this Post-Test. Feel free to buy additional CME hours or upgrade your current CME subscription plan