CHOP at the ACMG Annual Clinical Genetics Meeting

Children’s Hospital of Philadelphia (CHOP) will be represented in-person and virtually at the Annual Clinical Genetics Meeting hosted by the American College of Medical Genetics in Salt Lake City, March 14–18.  

Who will be there

Many members of our team will be presenting in various sessions. Stop by to say hello!

Natalie Burrill, MS, LCGC
Licensed Genetic Counselor

Ana G. Cristancho, MD, PhD
Pediatric Neurologist

Beverly G. Coleman, MD, FACR
Radiologist

Renee N. DiCicco, MS, LCGC
Licensed Genetic Counselor

Juliana Gebb, MD
Maternal-Fetal Medicine Specialist

Nahla Khalek, MD, MPH, FACOG, MSEd
Maternal-Fetal Medicine Specialist

Julie S. Moldenhauer, MD, FACOG, FACMG
Director of Obstetrical Services, Center for Fetal Diagnosis and Treatment

Edward R. Oliver, MD, PhD
Radiologist

Lisa Pilchman, MS, LCGC
Licensed Genetic Counselor

Erica Schindewolf, MS, LCGC
Genetic Counselor Specialist

Posters and Presentations

(P361) Complex Lymphatic Anomalies: Design of a Prospective Natural History Study (Erica Schindewolf, MS)

(P129) Development of a Maternal-Fetal Questionnaire to Aid in the Improvement of Prenatal Care for Lymphatic Anomalies  (Erica Schindewolf, MS)

(O44) Diagnostic Yield of Amniocentesis in Pregnancies ≥ 24 Weeks: An International Multicenter Study (Juliana Gebb, MD, and Erica Schindewolf, MS)

(P294) It’s Time to Listen to the Families: A Disease Concept Model for Gould Syndrome  (Ana Cristancho, MD)

(P631) Novel Prenatal Phenotype of Biallelic Mutations in SLC5A6: Expanding the Phenotypic Spectrum (Julie Moldenhauer, MD, FACOG, FACMG, Ana Cristancho, MD, and Juliana Gebb, MD)

(P607) Prenatal Presentation of Baraitser-Winter Syndrome: A New Lymphatic Multiple Congenital Anomaly Syndrome (Natalie Burrill, MS, LCGC, Nahla Khalek, MD, MPH, MS, Edward R. Oliver, MD, PhD, Renee DiCicco, MS, LCGC, and Julie Moldenhauer, MD, FACOG, FACMG)

(P606) Two Cases of Prenatally Diagnosed Cri-du-Chat Syndrome and Associated MRI Findings (Renee DiCicco, MS, LCGC, Natalie Burrill, MS, LCGC, Nahla Khalek, MD, MPH, MS, Juliana Gebb, MD, Sonika Agarwal, MBBS, MD, DNB, MNAMS, Matthew Whitehead, MD, Deborah Zarnow, MD, MS, Edward R. Oliver, MD, PhD, Ashley Bach, MD, MPH, Julie Moldenhauer, MD, FACOG, FACMG)

(P624) First Case of a FBXW11-Related Disorder Diagnosed via Prenatal Whole Exome Sequencing (Lisa Pilchman, MS, LCGC, Beverly Coleman, MD, FACR, Julie Moldenhauer, MD, FACOG, FACMG)

(P623) Prenatal Diagnosis of a RNU4ATAC-Related Disorder Detected by Whole Genome Sequencing Not Seen by Exome Sequencing on the Initial Proband (Lisa Pilchman, MS, LCGC, Beverly Coleman, MD, FACR, Allan Fisher, MD, FACMG, FACOG, Natasha Combs, MS LCGC, Kendall Kaufmann, MS, Julie Moldenhauer, MD, FACOG, FACMG, Juliana Gebb, MD) 

Get to know us

Tour our Fetal Center: A new video tour walks families through what to expect when they're referred to our center.

Tour our Garbose Family Special Delivery Unit: In this video, a mom who delivered her daughter in the SDU introduces viewers to the unit, what makes it unique, and what families can expect if they deliver there.

Expert Care for CDH: CHOP cares for more babies born with congenital diaphragmatic hernia than any hospital in the world. This video follows one family on their journey from prenatal diagnosis of CDH through delivery, treatment and discharge home.

We're hiring!

We are currently seeking candidates for a Fetal Surgery Nurse Coordinator role to join our team. Apply online here or email Susan Spinner for more details.

Resources

We encourage you to explore our library of educational materials and clinical resources, which include:

• Visit www.chop.edu/fetal-courses for a full library of fetal medicine education.
• Upcoming Fetal Firesides virtual CME lectures. Our just released Spring 2023 calendar includes sessions on the following topics:
  • Douglas A. Canning Memorial Lecture on Bladder Exstrophy and the Multi-institutuinal Bladder Exstrophy Consortium (MIBEC)
  • Fetal Encephalocele: Prenatal Diagnosis to Postnatal Management and Outcomes
  • Prenatal and Postnatal Management of Twin Anemia Polycythemia Sequence (TAPS)
  • What Placental Pathology Adds to a Fetal Center
  • Pathways of Care in Potentially Life-limiting Fetal Conditions
• Diagnostic tools for your practice
  • Flip charts (for managing CDH, TTTS and MMC)
  • CDH diagnosis with lung-to-head ratio
  • CCAM volume ratio prognostic tool
• Recent articles from our In Utero Insights newsletter
• Fetal medicine research
• Referral guidelines

Visit fetalsurgery.chop.edu/professionals for more. If you have questions or would like to request any educational materials, please contact us at any time.

Contact us

To refer a patient, get a second opinion, or for a general conversation, please don’t hesitate to reach us by phone at 800-468-8376 (800-IN-UTERO) or by using our online contact form.

To arrange a virtual meeting with any of our CHOP team members, please email Kristen Behrens at BEHRENSK1@email.chop.edu.

Stay connected: sign up for newsletters

Sign up for email updates to get the latest news from the Center for Fetal Diagnosis and Treatment, including education and training opportunities, clinical and research updates, and more.

Our print newsletter, In Utero Insights, also keeps you informed about advances at the Center that may be of interest to you in the management of your patients. Contact us if you'd like to receive a copy of our latest newsletter or subscribe to future issues.