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Down Syndrome Learning Center
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In my last two posts(prompted by a query from Sheila, a woman who is homozygous for the MTHFR C677T polymorphism and had a baby with Down syndrome) we have tried to make a case for an association of abnormalities in folic acid/methylation metaboli...
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In my November 29, 2006 post, I promised that my next post would focus on a discussion of first trimester screening for aneuploidy. It has taken awhile to get back to this, having had a few distractions along the way, but blogging does offer some ...
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The reader below underwent combined first trimester screening for aneuploidy and during the process, the baby was found to have an absent nasal bone. Due to the difficulty in routinely obtaining a definitive assessment of the nasal bone, and its c...
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Today I received another comment to a post I wrote awhile back on aneuploidy(chromosomal abnormality) from a reader who has a first trimester baby that was found to have a cystic hygroma. With the growing acceptance of first trimester screening fo...
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The other day, tjtiger left a new comment on my post"MTHFR Mutations and Congenital Heart Defects". Her many questions made her comment worthy of a post of their own and the query related to the possible assocation of MTHFR polymorhisms and schizo...
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Kristi has left a new comment on your post"Fetal Cystic Hygromas in First Trimester": Dear Dr.T, With my first pregnancy a cystic hygroma was found at 13 weeks. I had an amniocentesis done which came back normal for all genetic and chromosomal abn...
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My local hospital claims their amnio miscarriage rate is between 0.5 and 1.0 per cent. I am torn between no getting pregnant again given my age and driving myself ill with stress of not knowing for sure. many thanks anonymous.
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The March of Dimes asks us to remember January as National Birth Defects Prevention Month. Their website provides a list of recommended Prenatal Tests and the timing for scheduling these.
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Below is a series of excellent questions and my responses related to first trimester screening from a woman who has an IVF pregnany and twins... At Fri Jun 27, 06:53:00 AM 2008, Anonymous said Hi: How reliable is first trimester screening(FTS) in ...
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To bring those of you just jumping into this discussion up to speed, in our last two regular posts on the subject of Chromosomal Abnormalities in Multiple Gestations, we presented a case in which a 40 year old woman, who conceived twins by IVF aft...
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To Anonymous June 24: Large cystic hygromas have a very poor prognosis, even if the baby is chromosomally normal. Even if th FISH results are reassuring at this point, your baby could have a chromosomal abnormality that was not detected by FISH.
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Anonymous has left a new comment on your post" Abnormal First Trimester Screening Results": I received my screening results and was given a 1:86 chance of having a baby with Down syndrome(trisomy 21). I am 35 years old.
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A reader left the following comment on a post I wrote regarding"Abnormal First Trimester Screening Results." I have gotten this question repeatedly since we have begun offering this procedure for early aneuploidy(chromosomal abnormalities) screen...
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