Question:

NT testing for chromosome 13, deletion syndrome?

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My girlfriend just got her Nuchal Translucency test back and she got a 1:10,000 ratio which is awesome! However, does this test also detect: Chromosome 13, Partial Monosomy 13q Deletion 13q Syndrome? The only thing I read about the NT test was that it only detects downs. Does it detect other genetic defects other than downs? This would be really helpful thanks.

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  1. I'm not sure, but I do know that they can detect Chromosome 13 tests in-utero, as there are so many physical defects associated with this.  Most babies with chromosome 13 abnormalities do not survive long.  My mom had a baby with Trisomy 13 back in 1983, and even then, they knew what was going on before delivery.  I wish you and your girlfriend the best of luck, and a healthy baby!


  2. Please get your wife to do a Quantitative Fluorescence PCR testing done to thoroughly detect any chromosome aneuploidy.

    As far as Chromosome 13, Partial Monosomy 13q Deletion 13q Syndrome is your concern, My honest answer is that it can only be exactly known after a child is born. And to leave you will a promising note, You shouldn't worry because it is a very very rare case and since Your Girlfriend sounds perfectly healthy the case for P.monosomy 13q is very less likely to occur in the child.

    Wishing Your Wife & Your Future Child A Good Health !

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