Play Session 1 Recording
7 Oct 2020
Brief Opening Message — Louise Wilkins-Haug
Hottest Topics CRISPR — Bill Peranteau
This session discusses the basic approaches to CRISPR-mediated gene editing including HDR, NHEJ and base editing as well as the rationale for why in utero gene editing may be an attractive option for in vivo gene editing in a limited number of diseases. In the context of this discussion, data is presented from animal models supporting the potential feasibility of CRISPR and non-CRISPR-mediated gene editing. Finally, this session highlights some of the ethical considerations that are unique to gene editing applied before birth.
Play Session 2 Recording
14 Oct 2020
TOTAL Trial — Jan Deprest
Prof. Jan Deprest delivered this presentation on the contemporary management of congenital diaphragmatic hernia (CDH). He pioneered fetal endoscopic tracheal occlusion (FETO) for this condition and was the principal investigator on the two recently completed 'TOTAL-trials' comparing FETO with expectant fetal management for fetuses with CDH and severe or moderately severe pulmonary hypoplasia. Prof. Deprest discussed the trials and provided unique information to help with managing CDH in daily practice. The presentation was followed by a question and answer session to discuss the trials and explore further research in the field of fetal therapy for CDH.
Play Session 3 Recording
21 Oct 2020
Debate 1 - Fetuses with non-isolated fetal anomalies or genetic syndromes should be excluded from fetal therapy.
FOR: Magda Sanz Cortes AGAINST: Paige Church MODERATOR: Jan Deprest
Fetal surgery is an invasive procedure, which in select circumstances can provide benefits to the fetus and child, but often carries a risk of maternal morbidity. As such, selecting the optimal mother-fetus pairs for surgical intervention is crucial. So far, most studies exploring the benefits of fetal surgery have excluded fetuses with genetic or syndromic anomalies or with more complex structural anomalies. However, with increasing surgical experience and the advent of less invasive procedures, one could argue that it is "unethical" to exclude fetuses with more complex anomalies from fetal surgical interventions, especially if these interventions are not done in the setting of a trial or study.
This topic was debated by two experts in the management of fetuses and children with spina bifida, Dr. Magdalena Sanz and Dr. Paige Church.
Play Session 4 Recording
28 Oct 2020
Audio is unclear in some portions.
Debate 2: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered.
FOR: Lieve Christiaens AGAINST: Sylvie Langlois MODERATOR: Lyn Chitty
Non invasive prenatal testing (NIPT) is the most sensitive and specific screening test for trisomy 13, 18 and 21. The technology also has the potential to screen for other genetic anomalies, including sex chromosome anomalies and microdeletions. Controversy still exists as to whether microdeletion and sex-chromosome anomaly screening should be offered to patients, given the more limited sensitivity and specificity as well as the ethical implications. In this presentation, moderated by Lyn Chitty, Dr. Lieve Christiaens argued for expanded NIPT testing strategies while Dr. Sylvie Langlois argued against. The initial statements were followed by live rebuttals, an audience Q&A session, and interactive polls.
Play Session 5 Recording
4 Nov 2020
Functional Imaging — Ellen Grant
This talk discussed MRI methods to assess function of the fetus and placenta. Developing MR methods allows us to understand function as many disorders begin to express themselves in utero. MR methods have potential to provide phenotypic information that can help with diagnosis and assess the impact of interventions. First, Dr. Grant reviewed ways to use structural brain information, in particular gyral structure, cerebral mantle structure and machine learning approaches on structural fetal brain imaging, to infer brain function. Second, she reviewed some methods under development to quantify placental and fetal function. For placenta function, she talked about glucose CEST, T2*, T2* with maternal hyperoxia, relaxometry and ex vivo experiments. For fetal function, she described how leveraging machine learning quantifies complex 4D fetal motion as a measure of neurological health. Many of these methods are still in their infancy, and, although challenging, our goal is to develop actionable metrics. It is important to understand that this type of development requires sophisticated teams of maternal fetal medicine physicians, pathologists, neurologists, radiologists, developmental biologists, physicists, engineers and computer scientists – all with respect for each other’s domain of expertise.
Play Session 6 Recording
11 Nov 2020
Genetic Counseling — Sylvia Mann and Zoë Milgrom
This session featured talks from two genetic counselors. In the first talk, “Reaching underserved populations with telehealth service delivery,” Sylvia Mann addressed the highlights and challenges of telehealth service. In the second talk, "Current telehealth service delivery challenges and future directions," Zoë Milgrom discussed communication and relationship building through telehealth, illustrated through patient examples. Both speakers addressed the impact of telehealth on the future of genetic counseling.
Play Session 7 Recording
2 Dec 2020
ISPD Position Statement — Glenn Palomaki
The International Society for Prenatal Diagnosis (ISPD) has published a position statement in Prenatal Diagnosis on the use of cell-free DNA testing to screen multifetal pregnancies for Down syndrome and other autosomal trisomies. The position statement includes recommendations on the use of cell-free DNA testing, noting that the literature shows such testing to be appropriate for screening twin pregnancies and may also be a viable option for screening triplet pregnancies. This BONUS webinar will feature an overview of the recently published article.