CHOP at the ACMG Annual Clinical Genetics Meeting
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Published on in CHOP News
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.
Many members of our team will be presenting in various sessions. Stop by to say hello!
(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)
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 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.
We encourage you to explore our library of educational materials and clinical resources, which include:
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.
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.
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Categories: Center for Fetal Diagnosis and Treatment