HI,
I'm very pleased to be pregnant to my partner who has albinism. This means there's a small chance of the baby inheriting it. What I am concerned about is whether there are any signs of albinism that can be detected on ultrasound scans that might be mistaken for something else. I am due to have a dating scan and a routine nuchal translucency (NT) scan in a couple of weeks, which measures the skin thickness at the back of the baby's neck. The NT scan can help indicate whether a baby may have Downs Syndrome. However, my partner has quite a stocky body type which he shares with his sibling who also has albinism (their other siblings are dark and tall/skinny). I am concerned that if the baby has inherited albinism he or she may have a shape that might suggest Downs where it does not exist.Can anyone give me any information on this? My midwife wasn't very helpful. I hope the above makes sense- basically I have no problem having a baby with albinism and have my partner's own experiences to guide us, but worry that medical staff may find signs that unnecessarily make us think the baby has a serious problem.
Please help.
I didn't find the right solution from the Internet.
References:
http://www.albinism.org.uk/forum/viewtopic.php?t=959
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Thanks!