11 August 2015

First Australians to use Karyomapping genetic testing deliver healthy babies on the same day in different states

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Queensland Fertility Group

In an Australian first, two families have delivered healthy babies on the same day one in Melbourne the other Sydney conceived using karyomapping, a new pre-implantation genetic test based on the use of DNA fingerprinting to identify defective genes, introduced in Australia in November 2014 by Virtus Health (comprising Melbourne IVF, IVFAustralia, Hunter IVF, Queensland Fertility Group, & TasIVF).

The Melbourne couple Victoria and Mike were the first in the country to utilise pre implantation genetic screening & diagnosis with karyomapping treatment, conceiving a baby unaffected by the life threatening condition of Congenital Myasthenic syndrome.

“Our first son was affected by this condition, unable to breathe on his own, and died when he was only four weeks old. We were unaware of our carrier status for this condition until we lost our son. We desperately wanted children but could not risk passing on this hereditary condition and losing another child. Through the PGD with karyomapping treatment we have Benjamin healthy and happy in our arms,” said Victoria.

Congenital myasthenic syndrome is a very rare genetic condition that in this family causes severe muscle weakness in infants and is fatal. PGD is used to: help prevent transmission of a serious genetic disorder within a family; and identify chromosomally normal embryos most likely to create a baby.

The Sydney couple Alex and Jonathon also used pre implantation genetic screening & diagnosis treatment with Karyomapping conceiving a healthy baby, unaffected by the BRCA 1 breast and ovarian cancer gene, delivering three weeks early, coincidently coinciding with the Melbourne family.

“"Having a family history of breast cancer and receiving the BRCA 1 diagnosis myself I underwent a preventative double mastectomy last year and plan to remove my ovaries, but first we wanted to have a family. We are thrilled to have been able to use this genetic testing to create a daughter Sophie, who will not be affected by this gene – the curse truly stops here,” exclaimed Alex.

Dr Lyndon Hale, Medical Director Melbourne IVF, a member of Virtus Health explained 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. Sadly some couples have endured the loss of a child born with an inherited condition or had family members severely affected. Over 50 couples have already accessed karyomapping genetic testing, facilitating pregnancy and looking forward to birth of healthy babies,” said Dr Hale.

A/Prof Peter Illingworth, Medical Director IVFAustralia, a member of Virtus Health explains ”Karyomapping PGD is a major breakthrough in terms of convenience; it maps the DNA fingerprint between the two couples in each party’s DNA and uses that fingerprint to see which genes have been inherited by the embryos.”

Dr Sharyn Stock-Myer, Scientific Director Pre-implantation 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 Stock Myer explained.

Patients who know they are carriers of a genetic disease, such as BRACA 1, Congenital Myasthenic syndrome Haemophilia or Cystic Fibrosis, can have their embryos tested using pre-implantation genetic diagnosis (PGD) with Karyomapping.

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 altered gene is not detected, then the embryo is free of the genetic disorder and suitable for transfer to the woman’s uterus.

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