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LoverlyRails t1_ivrcy7f wrote

Reply to comment by haemaker in In a first, doctors treat fatal genetic disease before birth by 29PiecesOfSilver

The article says a pregnancy was terminated due to the disorder and the couple doesn't plan to have any more children.

Not every disorder can be screened for using IVF, perhaps this is one of them.

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Oligodendroglia t1_ivrjp5j wrote

They are usually able to detect the mutated gene from the mother via genetic sequencing and the same with the father, so they can determine exactly where the mutation occurs in both sets of DNA. They then build a probe to detect this mutation on a small sample of the embryo. The only time I’ve heard of the probe failing is if the parents were closely related. So it’s likely that they can do this via IVF. Source: did IVF with genetic testing for an autosomal recessive disease

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zebediah49 t1_ivs7brd wrote

Mildly worth noting:

While relatively straight forward from a research-project standpoint, I'd be impressed to see that done clinically with less than a six-digit pricetag.

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Oligodendroglia t1_ivt388b wrote

Yes, absolutely. IVF is not cheap and unfortunately insurance does not cover it most of the time (in the US). The genetic testing on top of the IVF for my case was an additional $6,800. Typically a round of IVF could cost anywhere from 15-25k, depending on medications, clinic, additional surgical procedures, etc. it’s not very accessible in the US.

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Blondeambitchion t1_ivtge7y wrote

This couple is in Ontario so they likely paid very little if anytime at all.

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iammissx t1_ivsmmms wrote

There are some genetic diseases that are are extremely difficult if not impossible to detect. I know of a case where the parents were not at all related but lost two children at a year old to a genetic disease which was undetectable. It really is a harrowing world.

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[deleted] t1_ivs2k65 wrote

[removed]

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FlyingApple31 t1_ivs55wh wrote

No, this is at the DNA level so it's pretty straightforward.

And in case you are wondering, I am a PhD doctor and DNA/genetic testing is in my field of expertise.

...And my guess is the same can be said of someone whose handle is a play on "Oligos", which are synthetic DNA building blocks for this kind of work.

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QuesoDeAzul t1_ivs70h9 wrote

Their name is a twist on oligodendrocytes, which are a type of glial cell.

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atypicalfemale t1_ivs2udx wrote

The article states that prenatal tests can detect this disease. It showed that their child would have it.

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Scarlet109 t1_ivs8g5e wrote

Hence why they partook in the clinical trial

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Fickle-Locksmith9763 t1_ivss5eb wrote

The article says

€Both parents carry a recessive gene for Pompe disease, which means there’s a 1 in 4 chance that a baby will inherit the condition. Bashir said their decision to proceed with additional pregnancies was guided by their Muslim faith.

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Zouden t1_ivsvqj8 wrote

That was for this child. They are done having kids now, per the article.

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