Really worried about this pregnancy.

[Misstee18]

Im 31. 14w+1 day pregnant. Had my 12 week scan last friday 15th of march and i was told 13w+2 days. Everything went well on scan no problems but i had the ds, edwards test and i got a phone call today saying the edwards test is like 1 in 1000 but the ds i more of a high risk. Im not really sure with all the numbers and figurs. Iv gota go for a nipt blood test tomorrow 22nd of march to determind if my baby has ds.

il copt and paste the email i got and if anybody knows more than i do then please try and put my mind at ease.

Further to our telephone conversation today, please find attached a copy of your Down’s syndrome report.

As discussed, your chance of having a baby with Down's syndrome is 1: 81 This is equal to a 1.2% chance of an affected baby therefore a 98.8 % chance of an unaffected baby. We discussed that this is a screening test and has a detection rate of around 85%. This means we will miss some pregnancies that are affected by Down's syndrome. People with Down's syndrome have an extra copy of chromosome 21 (trisomy 21). This causes learning difficulties and some physical problems for example some babies may also have a congenital (born with) heart condition that may require surgery. More information about Down's syndrome is available fromThe Down's Syndrome Association:

www.downs-syndrome.org.uk/ 

We discussed your options: Do nothing, have a second screening test called Non-Invasive Prenatal Test (NIPT), this is more accurate than a combined test, it works by measuring DNA (genetic material) in your blood, some will be from baby’s placenta. If there is more than expected from chromosomes 21, 18 or 13, this may mean your baby has Down’s syndrome, Edwards Syndrome or Patau’s Syndrome. Like every screening test, though, it does not give a definite answer. NIPT cannot harm your baby. Most women will get their result within 2 weeks. Your other option is a diagnostic test (CVS or Amniocentesis) earlier or later in pregnancy this has around 0.5% risk of miscarriage which is equal to 1:200.

More information can be found on NIPT on the GOV.UK website:

Down’s syndrome, Edwards’ syndrome and Patau’s syndrome: options after a higher chance screening result - GOV.UK (www.gov.uk)

The diagnostic tests are called a CVS (available from 11 weeks) or Amniocentesis (available from 15wks). For more information see the GOV.UK website:

Screening in pregnancy: CVS and amniocentesis information for parents - GOV.UK (www.gov.uk)

If we confirmed that a baby has Down's Syndrome in pregnancy, the options are to continue or end the pregnancy. Some couples find it helpful to think about what they would do if we confirmed the baby has Down's syndrome, this may help make the decision whether to have a diagnostic test or not (CVS or Amniocentesis).

im so worried now

Basically op your risk is that of 81 people with results like yours, one of them will have a baby with DS.

You can have a Nipt which looks at how much genetic material is in a cell and where any extra comes from. It isn't 100% but is more accurate than just the blood tests.

You can also have a CVS or amnio of you want a more definite answer. There is a low risk of these causing miscarriage.

If your baby is believed to have DS, you can opt at any point to end the pregnancy.

The anomaly scan at 20 will be useful in identifying any borth defects

Xx

Hey OP. I’ve been through this and had the NIPT as was high risk. If you ever want a chat or to ask any questions you are more than welcome to DM me. My results were back within 6 days (excluding weekend) and the wait was horrendous. I just kept myself reading positive stories on here. The only advice I can give you is that look at it a different way, you have a 1.2% chance in 100% that your baby has Down Syndrome. 98.8% chance your baby doesn’t. As mine come back low risk after my NIPT I wasn’t offered amnio and NIPT is 97/98%. Plus they’d pick up things on your 20 week scan. Try to think on the positive side although I know too well
how hard that is x

The most likely outcome is that your baby doesn't have down syndrome, but it's not definite.

Even if your result was 1 in 10,000 it still wouldn't be definite.

If you choose the NIPT blood test then you'll get a more sensitive result - that means it misses far fewer cases of down syndrome. Your result will likely be in the thousands (negative) or 1 in 10 (positive).

Even the NIPT can be wrong - even if it was positive you would likely choose an invasive test to be sure (amnio or cvs).

You are risking nothing having the NIPT to get more information, but it's also fine to be happy with the 1 in 81, particularly if you would go ahead with the pregnancy if your baby did have DS.

You fall within the category of "higher risk" but it's still a very small chance.

Honestly baby has more chance of having autism than downs being 1:81