We have fallen pregnant naturally and are 8 and half weeks pregnant, after ttc for 18 months and nearly taking the IVF route.
DH has a genetic condition called, Y-chromosome deletion which only affects sperm count, and will only be passed onto a son. my question is will this come up on the downs testing.
i'm not sure if when the results come back are they seperated into categories such as % rate for downs, % rate for other chromosomal problems.
we're not at all concerned about this being passed onto our son if we have one, but could other chromosomal problems give the percentage rate a higher chance of coming back high. it would be awful to have to go through further testing and find it was only this that was making it high.
i'm not sure who to ask this question cause my gp wasn't really helpful and we're not seeing our FS anymore.
anyway this may not even show on the results but was just worrying if it made a difference if anyone knows.
i am 28 and this is our first child so am a little scared, but hoping it's all fine.
Welcome to Belly Belly Beau9 and congratulations on your pregnancy.
The NT test does give a percentage rate for trisomy 21 and most centres give a percentage for 2 other trisomies that are less common.
I am aware of the condition your husband has - this will not affect your NT test.
Basically the NT test is a blood test (free bhcg and PappA) combined with measurement of the nuchal fold and other soft markers.
The first trimester screen looks at a couple of enzymes in the mum's blood and a measurement of the skin behind the baby's neck. One of the Mods (Flowerchild) wrote a good description earlier in this thread.
The results give a risk figure (e.g. 1 in 450) for trisomy 21 and a risk figure for trisomy 13/18.
I don't think that a y-chromosome deletion would show up on these tests. The Y-chromosome is quite small, and a deletion that has minimal effects is probably pretty small. The first trimester screen is picking up when there is a complete extra chromosome.
If you wanted to more information, you could ask to speak to a genetic counsellor. Most women's hospitals have a genetics unit and you should be able to get an appointment by ringing up.
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