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Genomics in perinatal medicine

Congenital structural anomalies are often detectable by prenatal ultrasound and have an impact on fetal mortality and morbidity.

Next-generation sequencing (NGS) has led to a technological advance in medicine and may be incorporated into clinical pathways for investigation of paediatric morbidity but can also be used to delineate the prognosis of fetal anomalies.

This Webinar allows discussion of the role of the investigation of the genome when fetal malformations are identified, the literature defining the clinical utility, the technique(s) most commonly used and potential promise and challenges for implementation into clinical practice. Prospective case selection with informative pre-test counselling by multidisciplinary teams is imperative. Regulated laboratory sequencing, bioinformatic pathways with potential variant identification and conservative matching with the phenotype is important. The use of these technologies hold much promise but also ethical and even moral challenges. : Prenatal genomic/exome sequencing in fetal structural anomalies yields additional diagnostic information and aid discussion of recurrence.

Why view

This is an informed discussion about the use of whole genome testing in the pregnant women and her baby.  It is an educational discussion that is relevant to practicing obstetricians, midwives and healthcare professionals related to perinatal care.

Who should view

  • All clinicians in Obstetrics
  • Allied Healthcare Professionals related to perinatal care
  • Midwives
  • SAS Doctors

Read the full programme

This page was last reviewed 22 February 2022.