Virtual Education Recordings | Series 2 | 2021

Session 1

7 Apr 2021

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1 Recording

Topic:  Spina Bifida

TALK 1:  New insights in the embryology, genetics and prevention of spina bifida — Andrew Copp, MBBS, DPhil, FRCPath, FMedSci, FRSB — see publications
Neural tube defects (NTDs) continue to be common congenital malformations worldwide. In this talk Dr. Copp recapped the range of defects that is included within the NTDs, and examined the evidence from developmental biology studies that show the diversity of origins of different NTD sub-types. Causation is usually a combination of genetic risk factors and environmental influences, and Dr. Copp reviewed the current state of genetic research into these conditions. Pathogenesis of NTDs were reviewed with reference to research in mouse models. Primary prevention is possible, via folic acid supplementation and food fortification in countries where this has been implemented. However, prevention is only partial, and additional strategies are needed to progress towards more complete prevention. Inositol is in clinical trial as an adjunct preventive therapy alongside folic acid, and progress was summarized.

TALK 2:  Spina bifida: What we tell the parents — Tim Van Mieghem MD, PhD — see publications
Worldwide, about 150 000 infants are born with spina bifida each year, making this condition one of the most common fetal central nervous system anomalies compatible with life. Over the last decade, major changes have been introduced in the prenatal diagnosis and management of spina bifida. In this talk, Dr. Van Mieghem discussed the current prenatal and perinatal management of fetal spina bifida and present essential information that should be provided to expecting parents when their fetus has been diagnosed with spina bifida. This information was focused around common parental questions, as encountered in typical clinical practice.

Session 2

5 May 2021

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2 Recording

Topic:  Abdominal Wall Defects

TALK 1: Genetic Basis of Abdominal Wall Defects — Mary Norton, MD — see publications
This talk will focus on the spectrum of abdominal wall defects, including gastroschisis and omphalocele, and will review genetic disorders that are associated with these anomalies. The lecture will also briefly discuss less common disorders, such as limb-body wall syndrome and Pentalogy of Cantrell. The talk will provide information on what is known about the genetics of these conditions, as well as a practical approach to testing when these disorders are identified. 

TALK 2: Omphalocele — What should we tell the prospective parents? — April Adams, MD — see publications
Omphalocele is one of the most common types of abdominal defects, with an incidence ranging from 1 in 1100 to 1 in 3000 pregnancies. Omphalocele is often associated with genetic and multiple malformation syndromes, and the overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with not only providing the diagnosis, but counseling the prospective parents regarding prenatal and postnatal management options. This talk will review essential points for counseling and answer some common questions that might arise in discussion with parents. 

Session 3

9 September 2021

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3 Recording

Topic:  Lower Urinary Tract Obstruction (LUTO)

TALK 1: LUTO, posterior urethral valve and its mimics — Louise Wilkins-Haug, MD, PhD — see publications
A dilated fetal bladder does not always indicate posterior urethral valves. Dr. Wilkins-Haug discussed the importance of gestational age, other findings and evaluation.

TALK 2: Fetal Interventions for LUTO Based on a Prenatal Staging System — Rodrigo Ruano, MD, PhD — see publications
Dr. Ruano discussed various prenatal therapeutic options according to a prenatal staging system.

Session 4

13 October 2021

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4 Recording

Topic:  Multiple Pregnancy

TALK 1:  What to look out for in monochorionic twin pregnancies — Liesbeth Lewi, MD, PhD — see publications
Monochorionic diamniotic twins occur in about 1 in 300 pregnancies. Compared with dichorionic twins, they face increased risks because of the shared circulation. In about 15%, an imbalance in blood exchange occurs, such as twin-twin transfusion syndrome and twin anemia polycythemia sequence. In this talk, Dr. Lewi summarized the latest evidence on the management of monochorionic diamniotic twin pregnancies and their specific complications, with a focus on information that is relevant for counseling prospective parents.

TALK 2:  Triplet pregnancy: What do we tell prospective parents? — Sabrina Craigo, MD — see publications
Dr. Craigo presented the diagnostic criteria, common complications, and management options for triplet pregnancies, to help obstetricians counsel patients on the medical and psychosocial consequences of triplet pregnancy, potential complications, and multifetal reduction.

Session 5

17 November 2021

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5 Recording

Topic:  Genetic work-up of the increased nuchal translucency

TALK 1:  Increased NT after negative NIPT: What should we tell the pregnant woman? — Lisa Hui, MBBS, PhD, University of Melbourne — see publications
The 12 week nuchal translucency (NT) ultrasound remains clinically important for the detection of structural anomalies in the NIPT era. However, the optimal management of pregnancies with a low chance of aneuploidy on NIPT but an isolated increased NT measurement is a new clinical dilemma for clinicians. This webinar addressed the common questions from pregnant women and clinicians as they navigate the uncertainty of having a fetus identified with an increased NT after a low‐risk NIPT result.

TALK 2:  When should we offer exome sequencing for fetuses with increased nuchal translucency? — Rhiannon Mellis, MD, UCL Great Ormond Street Institute of Child Health — see publications
Dr. Mellis discussed: current literature on the diagnostic yield of prenatal exome sequencing (ES) for fetuses with increased nuchal translucency (NT); the challenges of applying ES in this context; and present data from the two largest prospective prenatal ES studies (PAGE and Columbia) regarding natural history and outcomes from ES in fetuses presenting with increased NT.

Session 6

15 December 2021

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6 Recording

Topic: CNS Anomalies / Agenesis of the Corpus Callosum

TALK 1:  Central nervous system anomalies: When should we be offering rapid exome sequencing? — Caitlin Baptiste, MD, Columbia University Medical Center — see publications
Dr. Baptiste reviewed the results of a study of trio exome sequencing in a large cohort of unselected fetuses with CNS anomalies. This study supports the importance of including whole exome sequencing in the workup of fetuses affected by CNS anomalies, even if the CNS anomaly is found in isolation.

TALK 2:  Callosal anomalies in the fetus — Karina Krajden Haratz, MD, MSc, Tel Aviv Sourasky Medical Center — see publications
Dr. Haratz discusses the imaging features of callosal anomalies in the fetus and associated findings. Genetics and the challenge of predicting prognosis were addressed as well.