Abnormal Triple Screen results twins

My wife is pregnant with twins. She is now 19 weeks when she was 17 weeks against the doctors advice we did the quad screen test. We got a call to come in a few weeks later and they told us that the results were abnormal. It said that there is a 1:99 chance that one of the babies will have down syndrome everything else was clear. Our first ultrasound revealed nothing out of the ordinary. We immediately had a level 2 ultrasound and there were no "soft markers" and the due date was changed as a result of the ultrasound. I think the "MOM" score was high. We recently had a still born baby boy who had a diaphragmatic hernia. My wife is 27 and so am I. I read that the test is unreliable and especially with twins. I am looking for thoughts, experiences and opinions.

Thank you

[john911]

Anyone? I also just realized the test has her age at 28, but she's 27.

[eureka254]

The triple screen is a blood test that has a sensitivity of about 60-70%, and the estimation of "risk" is difficult in a twin pregnancy, because no one knows which twin is contributing what levels to the measurements in your wife's blood.  

Keep in mind that neither the triple screen nor the ultrasound can diagnose the presence or absence of Down Syndrome, but the statistics are in you and your wife's favor: chances are greater than 98% that your baby does NOT have Down Syndrome.  However, the only sure way to know is to have amniocentesis performed, but remember that it is a procedure that does carry a risk, so it's important to think about whether or not information about the baby's chromosomes is worth the risk.  Perhaps getting a referral to and meeting with a genetic specialist would be helpful if you and your wife haven't already done so.

Some more details might also be helpful:  you mentioned that your wife's due date was changed as a result of the ultrasound -- did they move her due date up or back, and by how many days? Also, was chromosome testing done on your baby boy who had the d.hernia, and if so, was it normal?  

With best wishes,
eureka

[john911]

Hello Eureka there is no genetic specialist where we live. I'm not sure they changed the due date, but I don't know when. When we lost our son we didn't have any testing done. He was diagnosed and a couple weeks later he died we also didn't have an autopsy, because my wife was against it. The baby appeared completely normal though when he was still born at 5 months. No history of any genetic problems on either sides of the families. I also read after we got the results like you said that the test is more unreliable with twins and some doctors discouring taking it when pregnant with multiples. Our doctor told us he didn't think we should take it, but we did anyway. We also turned down the amnio, because of the risk. Do you think when our baby boy was still born at about 5 months we could have been able to tell from facial features? What is your experience with this subject is it personal?  Thanks for your reply

[john911]

Sorry also too her age was correct. It was what her age will be when she delivers not how old she is now. Also I read somewhere that the quad screen done during the second trimester is supposed to be done in conjunction with a ultrasound. The last time we had an ultrasound before the screeing was almost a month earlier. They did a level 2 after the results the screen wasw around 17 weeks.

[eureka254]

More often than not, a diaphragmatic hernia is an isolated event; I know you and your wife must have gone through a most difficult time, and my condolences for the loss of your son.  Additional testing or autopsy may or may not have revealed more information, but it's understandable your wife made the choice she did at that time.  The unexpected and unpredictable events during pregnancy can cause such anxiety, and I wish you and your wife strength and courage through this time.

Because the quadscreen and other forms of serum screening have only moderately good sensitivity, the level II ultrasound also has value:  although it is unable to definitively diagnose chromosomal abnormalities like Down Syndrome, about 50% of the time, babies with Down Syndrome will show "physical markers" on ultrasound, and these markers are best identified at between 16-20 weeks. (It is important to remember, however, that also means 50% of the time babies with Down Syndrome look normal by ultrasound, and sometimes so called Down-Syndrome 'markers' are present in normal babies.)

If you and your wife are committed to the pregnancy 100%, then perhaps the decision not to have amnio is a wise one.   It might be recommended that your wife have fetal-echocardiogram performed at about 22-24 weeks by a perinatologist (maternal-fetal medicine specialist), which is an ultrasound focused on the baby's heart, as babies with Down Syndrome do have a higher incidence of heart defects.  

My last pregnancy was over 20 years ago, and the technology, testing, and medical knowledge back then was not quite what it is now, so I have no personal first-hand experience of you and your wife's current situation.  Also, I should stress that I am NOT a physician:  my information is gained from working closely for many years with people in medical genetics / genetic research, and I hope sharing what I've learned over the years can help you and your wife.  Wishing you and your wife the best.
~eureka