Need Advice : High Risk Trisomy 21 (Down's Syndrome) in First Trimister Double Marker

[mohit1989]

We are expecting our first child.
My wife is 26 yrs old. We had our First Trimister screening and results came at high risk for T21.
This is very stressful. I have not informed my wife as she is out of town at her mother's home for a week.
Dr said that they will do further testing once my wife is back.
Result are
NT : 2.5 mm, 1.82 MoM
B HCG : 3.03 MoM
PAPA A : 0.79 MoM

Trisomy 21 (Alone) - 1:223
Trisomy 21 (With NT) - greater than 1:50

I am worried and really stressed out. I need some assurance. Please help me deal with this stress.

Hi, congratulations to you and your wife.
What is it that’s stressing you out? 1:50 is only a 2% chance of having a baby with Down syndrome.

A 1/50 chance is still only 2%, but your concern is obviously valid. Your wife will be given the option for an amnio procedure (very thin needle inserted into amniotic sack) to determine a whether or not the baby is or is not definitely a downs baby. It carries a small risk of miscarriage.

You can also opt for a private procedure called the harmony test (no miscarriage risk), which will also confirm whether or not your baby has downs, but your have to pay for this.

From there you will be able to make the best decision for you and your family, knowing all the facts.

I know it's hard, but try to remember a 1:50 result means there's a 98% chance your baby does not have the chromosome abnormality.

Hi Gilbert,

Problem is my wife is having spotting and bleeding problem (Miscarriage scare) since 5th week of pregnancy. Our Dr put her on pregnancy support injections 1 per week. It is already very stressful.
Now further tests for T21 comes with miscarriage risk. I dont know should we go for it or not.

Hi Spanneroo,

I don't think we will be going for amnio when we discuss it next week with Dr.
Harmony test I will discuss.
Thanks

Hi, the harmony/NIPT is not a diagnostic test it will only give a ratio or high/low risk (but it is more accurate than the NHS combined test). You need to discuss with your wife if a positive result would change the course of your pregnancy (if baby had T21 would you terminate?), if not it might not be worth the risk of an invasive test such as an amnio or cvs.
Just to add I have a child with Down syndrome and it’s really not anything to be scared of (we had a postnatal diagnosis so it was a little unexpected), and remember any seemingly “healthy” baby can go on to develop illnesses, have learning delays, autism etc which can’t be screened for during pregnancy.

Thanks Gilbert,

We will definitely consider this advice of yours.

Why did they give you the information without your wife present?

You need to tell her now.
Otherwise you are denying her a week to think more about it and for you both to discuss it in advance of the additional tests.

Only she and you can weigh up how you feel about risk- both of having a child with T21 and/or the risk of invasive testing.

I wish you both strength