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Australian First: New genetic test set to improve access and outcomes for couples undergoing IVF

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In an Australian first, Virtus Health comprising Melbourne IVF, Queensland Fertility Group and IVFAustralia has introduced karyomapping, a new genetic test that will significantly improve access to treatment and the chance of a live birth for couples wishing to avoid the transmission of a serious genetic disorder to their children.

Patients who know they are carriers of a genetic disease, for example Haemophilia or Cystic Fibrosis, can have their embryos tested using karyomapping for preimplantation genetic diagnosis (PGD).

A/Professor Peter Illingworth, Medical Director at IVFAustralia said that karyomapping not only expands the offering of highly effective PGD tests, the significant benefit is its rapid turnaround of results, with all testing performed within Virtus Laboratories.

“Knowing that you, your partner or family has a known genetic condition, and wanting to avoid passing this condition on to your child is a real issue for many couples. Some have endured miscarriage or even the loss of a child born with an inherited condition. Today with the introduction of karyomapping genetic testing is offering faster, more comprehensive results, ultimately moving closer to peace of mind for parents,” said A/Prof Illingworth.

Dr Leeanda Wilton, Scientific Director Preimplantation Genetics at Virtus Health said “One of the benefits of karyomapping is that it removes the need for an individualised test to be developed for each couple, which not only makes the test more affordable but eliminates the need for months of laborious work, so that the patient’s IVF treatment can commence almost immediately,” Dr Wilton said.

“Another advantage of karyomapping over current technology is the ability to simultaneously detect many unrelated chromosomal errors that cause implantation failure and miscarriage, and we expect this will increase the live birth rate for patients accessing this treatment.”

Karyomapping is a single nucleotide polymorphism (SNP) test that examines the DNA of the couple and one or more family members to find a DNA fingerprint unique to the part of the chromosome that carries the altered gene which causes the disorder.

It is then possible to test cells removed from embryos for this fingerprint, revealing those that have inherited the altered gene. If the fingerprint characteristic of the healthy gene is detected, then the embryo is free of the genetic disorder and suitable for transfer to the woman’s uterus.

“More than 150 couples approach us each year seeking advice to help them conceive a child free of a known genetic condition. Many of these patients have already experienced years of heartache and even the loss of a child that was born with the disease that affects their family,” said Dr Sharyn Stock-Myer Head of Monogenic PGD, Preimplantation Genetics at Melbourne IVF.

 

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