CHOP at the ACMG Annual Clinical Genetics Meeting

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 Toronto, Canada, March 12–14.

Who will be there

Natalie Burrill, MS, LCGC

Posters and Presentations

Burrill, N, Fiorentino, D, Coleman, B, Schindewolf, E, Pilchman, L, Wright, R, Crane, H, Khalek, N. Diagnosis of Au Kline Syndrome in a Fetus with Lower Urinary Tract Obstruction: Case Report and Literature Review. 

Burrill, N, Wright, R, Huynh, Minh-Huy, Schindewolf, E, Pilchman, L, Crane, H, Paidas Teefey, C. Fetus with Cole-Carpenter Type 2 Presenting with Novel Neonatal Lethal Skeletal Dysplasia.

Burrill, N, Kumar, N, Agarwal, S, Beslow, LA, Oliver, ER, Huynh, M, Goldmuntz, E, Pukenas, B, Borst, A, Britt, A, Vossough, A, Fuller, S, Lang, S, Schindewolf, E, Pilchman, L, Wright, R, Crane, H, Paidas Teefey, C. Two Fetuses with Hereditary Hemorrhagic Telangiectasia Presenting with Rare Finding of Arteriovenous Malformations.

Burrill, N, Schindewolf, E, Wright, R, Pilchman, L, Crane, H, Oliver, ER, Khalek, N, Gebb, J, Paidas Teefey, C, Soni, S, Moldenhauer, J. Genetics of Prenatally Diagnosed Micro/Anophthalmia.

Crane, H, Moldenhauer, Khalek, N, Gebb, J, Paidas Teefey, C, Schindewolf, E, Burrill, N, Pilchman, L, Wright, R, Borst, A, Fox, M, Coleman, B. Milroy Disease Presenting as Hydrops Fetalis: A Case Series.

Lee, Ingrid, Schinewolf, Erica, Conway, Laura, Christancho, Ana, Gebb, Julianna. Utility of Genetic Evaluation of Congenital Posterior Fossa Anomalies.

Get to know us

Tour our Fetal Center: This 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.

Events

Don't miss our upcoming Fetal Firesides virtual CME lectures from 7 - 8:30 pm (EST). Our Spring 2024 calendar includes sessions on the following topics:

From the Start: CFDT Conference 2024

May 2 - May 4, 2024, HUB Auditorium, Children's Hospital of Philadelphia, Philadelphia, PA

This three-day conference will enhance knowledge in maternal-fetal care and overall pregnancy outcomes, particularly as it relates to fetal intervention and maternal, fetal and neonatal outcomes. Special focus will be placed on prenatal imaging and diagnosis of fetal conditions, as well as the nuances of these conditions that impact parental counseling.

Register today. 

Resources

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.

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@chop.edu.

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