Victorian woman Melissa Nord says her son Mitchell is alive today thanks to a prenatal genomics test that led genetic pathologists at NSW Health Pathology to uncover a rare genetic condition that required immediate, lifesaving treatment at birth.

Imag­ine dis­cov­er­ing before a child is even born that they car­ry a rare, lethal con­di­tion.  And imag­ine being able to inter­vene imme­di­ate­ly at birth, trans­form­ing what would have been a tragedy into a healthy life.

That is the pow­er of genom­ic med­i­cine. It’s what our team at NSW Health Pathol­o­gy Rand­wick Genomics work­ing with Monash med­ical cen­tre achieved recently.

An extraordinary outcome from a routine test

When a rou­tine ultra­sound detect­ed heart anom­alies in her unborn son, Melis­sa Nord opt­ed for pre­na­tal genom­ic test­ing through the Med­ical Research Future Fund Pre­Gen project, led by NSW Health Pathol­o­gy Clin­i­cal Genomi­cist, Prof Tony Roscioli.

The results of the DNA sequenc­ing were processed at NSW Health Pathology’s Rand­wick Genomics laboratory.

“We did find a heart gene vari­ant, but what changed every­thing was an inci­den­tal find­ing,” said Prof Roscioli.

“The baby car­ried muta­tions in a gene called ADAMTS13, pre­dict­ing the pres­ence of con­gen­i­tal throm­bot­ic throm­bo­cy­topenic pur­pu­ra (or cTTP).

“This is a severe dis­or­der where tiny blood clots form through­out the baby’s body, destroy­ing blood cells, dam­ag­ing organs, and often prov­ing fatal in newborns.”

This ear­ly detec­tion, which was report­ed and con­sid­ered by Dr Michael Buck­ley Genet­ic Pathol­o­gist and Clin­i­cal Direc­tor at the NSWHP Rand­wick Genomics Lab­o­ra­to­ry, meant life­sav­ing ther­a­py was pro­vid­ed at Mitchell’s birth.

Clin­i­cians were able to set up a man­age­ment plan, and Melis­sa was advised to deliv­er at Monash Children’s Hos­pi­tal in Mel­bourne, four hours from her home.

“Baby Mitchell was treat­ed using drugs that were sent to Aus­tralia from the Unit­ed States and would not oth­er­wise have been avail­able local­ly,” said Prof Roscioli.

“Doc­tors also had time to set up pre­cau­tions for things like urgent cord-blood test­ing and fresh frozen plas­ma for imme­di­ate administration.

“The detec­tion of this con­di­tion was only pos­si­ble due to the knowl­edge and train­ing of Dr Michael Buck­ley. He is one of very few peo­ple in Aus­tralia, pos­si­bly the only one, with the exper­tise to have picked up this condition.”

The power of science

Melis­sa says Mitchell has met every growth mile­stone and is now a thriv­ing toddler.

“The sup­port we received was incred­i­ble. We were giv­en assis­tance to bet­ter under­stand the dis­ease and treat­ment options once Mitchell was born, along with coun­selling and emo­tion­al support.

“Being told there’s some­thing wrong with your child before they’re even born is scary. There’s no oth­er word.

“My fam­i­ly is incred­i­bly grate­ful for the genomics experts. This test­ing reminds us how pow­er­ful sci­ence is. It saved Mitchell’s life.”

The case has now been pub­lished in the New Eng­land Jour­nal of Med­i­cine.

Prof Rosci­oli says it demon­strates that:

• Genomics can save lives. Pre­na­tal sequenc­ing didn’t just explain anom­alies – it pre­vent­ed a tragedy.
• Team­work is essen­tial. Vari­ant cura­tion and clin­i­cal inter­pre­ta­tion required pathol­o­gists, geneti­cists, car­di­ol­o­gists, neona­tol­o­gists, and ethi­cists work­ing together.
• This is the future of med­i­cine. As genom­ic test­ing becomes more acces­si­ble, we will increas­ing­ly iden­ti­fy action­able con­di­tions before symp­toms appear. That rep­re­sents huge oppor­tu­ni­ties to change outcomes.

Genomics is no longer just about diag­no­sis; it’s about pre­ven­tion and survival.

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