Cystic Hygroma: Definition, Genetics and Prognosis
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. Explain the anatomic significance of a cystic hygroma 2. Discuss the association of cystic hygroma and aneuploidy
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.
Cystic hygroma is a large single or multilocular fluid-filled cavity located in the nuchal region, behind and around the fetal neck, which can extend the length of the fetus and can be seen on fetal ultrasound. Cystic hygroma differs from nuchal translucency (NT). NT is a fluid-filled space normally seen behind the fetal neck on ultrasound performed in the first trimester. Unlike cystic hygroma, NT is a normal structure where size measurement is used as a risk factor for genetic disorders. A thick NT measurement is associated with aneuploidy and other structural anomalies.
Refer for high risk OB consultation and genetic counseling, and consider prenatal diagnostic testing
ACOG guidance recommends offering invasive testing using microarray in the setting of fetal structural anomalies seen on prenatal ultrasound
Detailed anatomic ultrasound
A cystic hygroma is an anomaly of the vascular-lymphatic system formation. Failed venous-to-lymphatic connections lead to distended fluid-filled spaces and visualization of septations which may extend along the length of the fetal axis. A cystic hygroma can be seen as early as an 11-week ultrasound. Later in pregnancy, cysts may be seen on either side of the fetal neck, with a nuchal ligament running between the two structures. Aneuploidy is present in 50% of cases. There is a high rate of intrauterine fetal demise especially if hydrops is seen. However, 10 to 20% may resolve in utero in euploid fetuses.
50% likelihood of aneuploidy
There is evidence that cystic hygroma detected early in the first trimester (< 45 mm CRL) may have lower rates of chromosomal abnormalities that those identified later in the first trimester (43% vs 73%)
Most commonly Trisomy 21 / Down Syndrome, 45X and Trisomy 18
<20% result in a healthy live-born infant at term
Not to be confused with nuchal translucency (NT)
Fluid filled space normally seen behind the fetal neck on first trimester ultrasound
NT measurement is a key component of fetal aneuploidy screening
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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.
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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.
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