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3.2 Genomics for obstetrics and prenatal care

These resources have been reviewed by a panel of consultants and trainees. Quotes have been provided by this panel.

 

3.2.0 Fetal Genomics – What does an obstetrician need to know?

Video 30min webinar

From the 2020 RCOG Annual Professional Development Conference:

Citing clinical examples, Dr Kelly Cohen, Clinical Director for Women’s Services and Consultant in Obstetrics and Fetal Medicine at Leeds Teaching Hospital NHS Trust explains how knowledge of Transgenerational Genomics helps her deliver a holistic approach to perinatal care.

https://vimeo.com/502594665/135d31a597

Further information is available in:

 

3.2.1 Rare disease diagnosis: from GP to specialist

Video 7min

This short video from HEE exemplifies the need for a diagnosis in suspected genetic disease. It rehearses how the 100,000 genomes project will help (and already has) in identifying causes in order to provide more certainty about prognosis and appropriate care.

https://vimeo.com/336106134

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3.2.2 The power of a genetic diagnosis

Video 2min

This short video from HEE shows how the difficulties faced by families who have a child with behavioural and learning problems can be aided by a genetic diagnosis made with the use of whole exome sequencing.

https://vimeo.com/336803720

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3.2.3 Over-interpreting genomic variants

Video 4min

The finding of a genetic variant does not necessarily mean it is responsible for the condition under investigation. Over-interpretation can lead to misdiagnosis.

https://vimeo.com/336811697

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3.2.4 Gene directed therapies

Video 2min

A brief introduction as to how a correct genetic diagnosis can lead to appropriate gene directed therapy being implemented with a positive outcome.

https://vimeo.com/336804811

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3.2.5 Role of genetic counsellors

Video 4min

A short introduction by HEE to the vital role that specialist genetic counsellors play in the management of patients who need genetic testing and their role in conveying diagnostic information and support with understanding their genetic condition.

https://vimeo.com/300304855

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3.2.6 Heel-prick testing and whole genome sequencing (WGS)

Briefing note – Nuffield Council on Bioethics

Whole genome sequencing is cheaper and faster than ever, but interpreting the results is difficult, time-consuming, and expensive, and may be fraught with ethical dilemmas.

“A good succinct note for the specialist.”

https://www.nuffieldbioethics.org/wp-content/uploads/Nuffield-Council-on-Bioethics-briefing-note-whole-genome-sequencing-of-babies.pdf (PDF)

 

3.2.7 Should we sequence babies?

Briefing note – Public Health Genomics Foundation

Whole genome sequencing of newborns for the diagnosis of genetic disorders is now technologically possible and is already being used in selected cases where a rare disorder is suspected in a seriously ill baby. But should it be used in all newborn babies?

https://www.phgfoundation.org/blog/­should-we-sequence-babies

 

3.2.8 Newborn Screening – time to expand the list?

Blog post – Genomics Education Programme

Genetic Alliance UK’s patient charter of newborn screening for rare genetic conditions

https://www.genomicseducation.hee.­nhs.uk/blog/newborn-screening-time-to-expand-the-list/

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3.2.9 Non-Invasive Prenatal Testing (NIPT)

Interactive course 6 hours

This free Future Learn course for healthcare professionals from St George’s provides a broad insight into the key issues surrounding NIPT leading on from Dennis Lo’s introduction (2.7).

“A helpful reminder.”

https://www.futurelearn.com/courses/­non-invasive-prenatal-testing

 

3.2.10 What is NIPD?

Blog post – Genomics Education Programme

How is NIPD different from NIPT? A short note explaining the difference and its use.

https://www.genomicseducation.hee.­nhs.uk/blog/what-is-nipd/

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Get in touch

Thank you for visiting our Genomics hub. If you have any questions about genomics at the RCOG or feedback about this hub, please email fpradhan@rcog.org.uk.