Question 1

my trisomy is 1:14. what is the chance of my baby will have down syndrome. ultrasound clear.

Accepted Answer

T1;14(p22;q32: commonly seen in extranodalMZL associated with lymphomas
downs syndrome translocation involves different chromosomes
so the chance of downs syndrome is that of the general public not any more

Question 2

when can you find out your baby has down syndrome through an ultrasound?

Accepted Answer

Not precisely!: Ultrasound cannot diagnose a fetus with Down syndrome (trisomy 21). It can pick up "soft" markers for downs. If you indeed identify soft markers, a discussion with your physician is critical to ascertain the risk of having an infant with a chromosomal abnormality. Further prenatal testing may be considered such as cvs or amniocentesis. It can be a difficult decision to make.

Question 3

what week did you find out your baby had down syndrome through ultrasound?

Accepted Answer

Screening for Down's: Due to its late timing (18 to 20 weeks of gestation), the genetic sonogram is not appropriate as a primary screening test.The first trimester combined test is the best screening test for women whose priorities include privacy and early diagnosis. This test involves combining data from the ultrasound with certain serum marker results. It can be performed at 9-13 weeks gestation.

Question 4

has any one had the blood test positive for down syndrome but then ultrasound showed the baby fine?

Accepted Answer

Great question.: Amniocentesis takes a fluid sample and looks at foetal chromosomes. Down's demonstrates trisomy 21; edwards syndrome, trisomy 18. Others too. An u/s tells nothing about chromosomes, and there is not a contradiction of one test by the other. The chromsome changes are not artifacts.  If you do not want to know, do not get the test. Every couple needs to make their own choice; it's no one else's.

Question 5

could high levels of hcg point to down syndrome? mine were around 245, 000 at 9.2 weeks. have had ultrasound and only one baby.

Accepted Answer

Range for normal HCG: Levels at 9-12 weeks LMP is 25, 700 – 288, 000 miu/ml, so yours is ok. At 11-14 weeks, a skilled ultrasonographer can determine if there is increased fluid under the skin at the base of the fetus' neck, a sign that other screens or diagnostic tests for ds are neeeded. A "quad" test that measures 4 pregnancy hormones screens for increased risk of certain birth defects including ds  at 16-18 weeks.

Question 6

my doctor didn't find any down syndrome markers in the ultrasound. does that guarantee my baby won't have down syndrome?

Accepted Answer

No. OB's combine the: results of an integrated screening test that includes specific blood tests in both the first &amp; 2nd trimesters + the first trimester ultrasound to determine a single Down Syndrome risk rating. Only prenatal diagnostic tests of fetal genetic material for either Karyotype to determine # of chromosomes or Chromosomal Microarray to determine mutations in smaller gene sequences are definitive.

Question 7

can a 20 week anatomy ultrasound pick up down syndrome in the baby ? i have an increased risk of a  1 in 89 chance of having my baby born with ds

Accepted Answer

Didn't you ask this?: Your risk assessment was obsolete, Ultrasound detection of Down at 20 weeks misses many. Demand   a test of freei fetal DNA in your blood sample--your PCP can order the Harmony test from Ariosa: call 1-855-9-ARIOSA (855-927-4672) In over 15,000 pregnancies they detected 100%  of Down syndrome and the chance of a false positive was less than 1 in 1000. Results in 4 to 8 days.

Question 8

i had a 12 ultrasound and no nasal bone was found that's it mean my baby has down syndrome or it may be to little to tell help i'm worried please?

Accepted Answer

Needs followup: Although suspicious, it may be too early to tell for sure.  Data are better for 2nd trimester ultrasounds, in the 15 to 20 week range.

Please see your ob/gyn and discuss consultation with high risk OB and a plan for further testing and additional OB us.

Based on epidemiology (population analysis - not necessarily true for you!): hypoplastic nasal bones - .5-1.2% normal fetuses vs. 43-62% down's.

Question 9

i had my 20wk ultrasound.they told me that she had a mild increase in nuchal fold.quad screen was negative.could my baby have down syndrome?worried

Accepted Answer

See below: First off, it's very easy and common to make the nuchal fold look big when it really isn't, so that's the good news.  Bad news is that if it truly is thickened, it is concerning. A nuchal fold over 6 mm increases the risk of down's by 17 times.  So divide your quad screen results by that for true risk.  Again, if truly large, would consider an amniocentesis.  Could also get a level 2 us to confirm.

Question 10

what are some of the signs and ultrasound findings of down syndrome?

Accepted Answer

Many: The most predictive finding of Down syndrome on prenatal ultrasound is an absent nasal bone. Others include an enlarged space in the back of the neck, an opening in the abdominal wall, malformations of the heart, and many more. Your doctor can give you a risk of down's (such as 1 in 1, 000) if you have a blood test combined with an early ultrasound.

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Doctor answers about:

Ultrasound pictures of baby with down syndrome

A member asked:

My trisomy is 1:14. what is the chance of my baby will have down syndrome. ultrasound clear.

A member asked:

When can you find out your baby has down syndrome through an ultrasound?

A member asked:

What week did you find out your baby had down syndrome through ultrasound?

A member asked:

Has any one had the blood test positive for down syndrome but then ultrasound showed the baby fine?

A member asked:

Could high levels of hcg point to down syndrome? mine were around 245, 000 at 9.2 weeks. have had ultrasound and only one baby.

A member asked:

My doctor didn't find any down syndrome markers in the ultrasound. does that guarantee my baby won't have down syndrome?

A member asked:

Can a 20 week anatomy ultrasound pick up down syndrome in the baby ? i have an increased risk of a 1 in 89 chance of having my baby born with ds

A member asked:

I had a 12 ultrasound and no nasal bone was found that's it mean my baby has down syndrome or it may be to little to tell help i'm worried please?

A member asked:

I had my 20wk ultrasound.they told me that she had a mild increase in nuchal fold.quad screen was negative.could my baby have down syndrome?worried

A member asked:

What are some of the signs and ultrasound findings of down syndrome?

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