[For sharing] Not to be overly concern over prenatal testing (oscar , detail scanned)

[carrotzz]

Dear All

My wife just gave birth to a beautiful daughter last Friday at TMC. I made a promise to share online with mummies-to-be on some of the hiccups we have throughout her pregnancy, and how the hiccups actually turned out to be needless worry.

This is to remind all mummies-to-be, to enjoy your pregnancy process, don't be overly concern over non-diagnostic screening (especially oscar test), and be confident with LO inside you.

Short summary of our LO from conceived till birth.

Hiccup 1
My wife conceived our LO in Nov 16. At her 12 weeks milestone, we did the usual oscar test at TMC. The results were normal for all items except there is absent of nasal bone. The absent of nasal bone increased our LO's risk of T21 also know as DS to 1:296 slightly below the borderline of 1:300. Our gynae assured us that our LO's oscar results are promising except the nasal bone which is more applicable to westerner (i.e. my wife has very small nose). Regardless, we were asked (1) to for Panaroma Test which extracts the baby's DNA through the mother's blood, it is 99% accuracy (though not diagnostic in nature), (2) to go for another scar scan in a few days time as the sonographer mentioned that she saw a glimpse of nasal bone in the ultrasound but not bright enough to be considered as present.

After a few days, we did a follow up oscar scan by another sonographer, she confirmed that the nasal bone is absent, and doctor TC Chang who is the head of TMC fetal specialist came in to confirm the result. The results made me and my wife very worried after we did alot of google search on absent of nasal bone. There wasn't many cases shared online in our local forum (motherhood or mummysg), which even make us more worried. Despite our gynae's assurance, my wife was still very concerned throughout the entire period. Fortunately, the Panaroma Test results came back 2-3 weeks, and it was cleared with low risk score of 1/10,000 of all the trisomy tested. We were initiated skeptical aboutthe test (google and stuff on the fake negative rate etc), but the gyane gave us reassurance to trust the scientific test result which has a proven track record.

Hiccup 2

We then managed to move on (at times still thinking about the absent of nasal bone). At week 20 (hurray), it's time for the detailed scan. At week 20's detail scan, our LO passed with flying colours, the scan detected her nasal bone, short but present (slightly below 5% percentile)with majority of the items around 50 percentile, and head nearer to 70-80 percentile.

The detailed scan really put us at ease. However, the blood flow resistance level was near the higher limit level on 1 side of her artery, and another side has just exceed the higher limit. Higher resistance will lead to restrictive growth on the baby. Thus, my wife was prescribed aspirin to thin the blood and allow more blood flows to our baby.

Hiccup 3
My wife then continued her pregnancy until 30 plus weeks. We've asked to do a 2nd level ultrasound to check the baby's growth and blood flow resistance level in the artery. To our horror, our LO's growth has reduce significantly with head at around 50-70% percentile, legs slightly below 5%, very short nasal bone, and abdominal circumference around 20-30%. Another round of google searched scared us on the term of dwarfism, and anchorplasia. There were little cases shared in our local website. Personally, i've read on 2 cases with the 2nd case sharing that there is a short nasal bone and other markers. There is some slight improvement to the blood flow resistance but still it is a the higher limit.

Moving forward to today, our LO is born healthy. She has a perfect little nose which looks like her mum, her length is ok and most probably her height is attributed to her mum's height (she is 154cm).

End of the day, what we wanted to share is, we hope all mummies-to-be, daddies-to-be out there, do not be overly worried about your baby, enjoy the process instead of worrying. Most importantly, trust your gyane's judgement and also give the oscar test a pinch of salt.

Have a great pregnancy ahead.

 

[poachedsalmon]

Hi carrotzz, it's encouraging to read your post.

Went for Oscar test results today. And doctor told me that my child is on the high risk of DS. Trisomy 21 result is 1:700, I'm in my mid 20s so the low risk result should be 1:1000. She recommended for a igene test for a more detailed result. Baby nasal bone is absent too I am not sure what does it mean. I am freaking out now and not sure what to expect after 3weeks.

 

[carrotzz]

Hi carrotzz, it's encouraging to read your post.

Went for Oscar test results today. And doctor told me that my child is on the high risk of DS. Trisomy 21 result is 1:700, I'm in my mid 20s so the low risk result should be 1:1000. She recommended for a igene test for a more detailed result. Baby nasal bone is absent too I am not sure what does it mean. I am freaking out now and not sure what to expect after 3weeks.

Hi poachedsalmon

According to my wife's gyane risk score of anything below 1:300 should then be considered as high risk. My Wife is in her late 20s.

I did a lot of Google research on absent of nasal bone, comparing western and asian countries. Absent of nasal bone with higher risk of DS is normally applicable to western countries, we were also assured by gyane on that. Our gyane told us that in the past no one looked at nasal bone as a marker of DS. Furthermore, there are a lot of cases shared by parents with DS child that their child had good nasal bone measurement at week 12.

Aside from the nasal bone, are there any markers (i.e. Cleft lips, short femur or humur length, thick nachal fold) indicated in your oscar test. Based on my research (I.e papers and publication done by Researchers), it would be higher risk if there are other markers. But, rest assured your risk score of 1:700 is very assuring, personally I don't think there is much of a concern.

Secondly, does you or your Husband has small nose and little nasal bone (you can Google it to find the location of the nasal bone). There is a possibility the parents attributed to the small nasal bone (I.e my Wife has a very cute piggy nose and rather short nasal bone) which will be detected at your subsequent scan. Our LO nasal bone only appeared in week 20, and it remaining consistently short, actually it was very short which is a only marker for DS. But, it was brushed aside after having our panaroma test results.

Igene is a blood test similarly to the one my wife took. All these tests are called nipt (non invasive prenatal test), meaning there is no risk of any miscarriage, but they have disclaimer that it is a screening test similarly to oscar meaning not guarantee as compare to aminocentsis or cvs (I.e diagnostic which means is guarantee) and it carries a risk of miscarriage. I would recommend you to source around for the better nipt test. I last compare the tests available, panaroma is highly recommend for T21 DS test as their detection rate is 99% though it is not diagnostics.

I do know how you feel as my wife cried upon knowing our oscar result. But as I say your risk of 1:700 is very promising if there are no other markers (I.e thick nuchal fold is also one of the higher risk marker), so do not fret over it, go for the nipt blood test (You will also get to know the gender of your LO) and trust the test since it cost quite a fair bit. Last but not least, I am sure if it really helped to grow my LO's nasal bone but my wife started consuming plenty of calcium items such as milk, soy bean. Try to go for sugar free drinks as you need to watch for your gestional diabetes.

Oscar test results is notorious for its inaccuracy , you can Google it. I shall pray for you, and be confident since it's your baby. Take care.

 

[joops1002]

Hi carrotzz, it's encouraging to read your post.

Went for Oscar test results today. And doctor told me that my child is on the high risk of DS. Trisomy 21 result is 1:700, I'm in my mid 20s so the low risk result should be 1:1000. She recommended for a igene test for a more detailed result. Baby nasal bone is absent too I am not sure what does it mean. I am freaking out now and not sure what to expect after 3weeks.

1:700 totally nothing to worry about! Just enjoy the pregnancy please. My oscar result was 1:68 and NT like 3.5mm. The kkh senior keep pushing me for the invasive test Lucky I have a very very optimistic gynae! He told me just go for the paranorma blood test. He said: 68 baby then only 1 baby will have ds...how high is the chance?! And true enough I gave birth to a very healthy girl.

 

[joops1002]

Hi poachedsalmon

According to my wife's gyane risk score of anything below 1:300 should then be considered as high risk. My Wife is in her late 20s.

I did a lot of Google research on absent of nasal bone, comparing western and asian countries. Absent of nasal bone with higher risk of DS is normally applicable to western countries, we were also assured by gyane on that. Our gyane told us that in the past no one looked at nasal bone as a marker of DS. Furthermore, there are a lot of cases shared by parents with DS child that their child had good nasal bone measurement at week 12.

Aside from the nasal bone, are there any markers (i.e. Cleft lips, short femur or humur length, thick nachal fold) indicated in your oscar test. Based on my research (I.e papers and publication done by Researchers), it would be higher risk if there are other markers. But, rest assured your risk score of 1:700 is very assuring, personally I don't think there is much of a concern.

Secondly, does you or your Husband has small nose and little nasal bone (you can Google it to find the location of the nasal bone). There is a possibility the parents attributed to the small nasal bone (I.e my Wife has a very cute piggy nose and rather short nasal bone) which will be detected at your subsequent scan. Our LO nasal bone only appeared in week 20, and it remaining consistently short, actually it was very short which is a only marker for DS. But, it was brushed aside after having our panaroma test results.

Igene is a blood test similarly to the one my wife took. All these tests are called nipt (non invasive prenatal test), meaning there is no risk of any miscarriage, but they have disclaimer that it is a screening test similarly to oscar meaning not guarantee as compare to aminocentsis or cvs (I.e diagnostic which means is guarantee) and it carries a risk of miscarriage. I would recommend you to source around for the better nipt test. I last compare the tests available, panaroma is highly recommend for T21 DS test as their detection rate is 99% though it is not diagnostics.

I do know how you feel as my wife cried upon knowing our oscar result. But as I say your risk of 1:700 is very promising if there are no other markers (I.e thick nuchal fold is also one of the higher risk marker), so do not fret over it, go for the nipt blood test (You will also get to know the gender of your LO) and trust the test since it cost quite a fair bit. Last but not least, I am sure if it really helped to grow my LO's nasal bone but my wife started consuming plenty of calcium items such as milk, soy bean. Try to go for sugar free drinks as you need to watch for your gestional diabetes.

Oscar test results is notorious for its inaccuracy , you can Google it. I shall pray for you, and be confident since it's your baby. Take care.

You google too much my friend! Internet is a evil world. Good to google for info but not over rely on it. Trust your gynae professional advise

 

[poachedsalmon]

Hi guys thank you so much for being so encouraging. It helps.

 

[stella2407]

Hi everyone, would also like to share my experience with a not-so-good ultrasound results. I told myself that I will come to this forum to share once I give birth so here it goes...

I had my detailed scan at around 21 weeks where it was found that my baby’s long bones were all measuring short, especially the humerus which was at the 5th percentile. My gynae recommended us to go for a specialist review at TMC, where the Dr told us that there was a possibility of dwarfism and skeletal dysplasia with the ultrasound findings. hearing that just made our whole world collapse around us and the Dr strongly recommended us to go for an amnio to confirm the findings and determine if we want to terminate the pregnancy. There was very little time to decide as we could only terminate the pregnancy until week 24. Our gynae also recommended us to speak to a genetic Counsellor at KKH and a second scan at KKH before we decide if we want to go for the amnio.

The second detailed scan at KKH showed that all the long bones were > 5th percentile, and we were reassured by the KKH ultrasound doctor and the genetic counsellor that our results look normal, and that the difference between TMC and KKH scans were due to the different references used (KKH uses Asian babies as a reference while TMC uses an international reference for the percentile). Nevertheless, we were booked for growth scans at 28 and 34 weeks and the possibility of our baby having issues continue to hang over us. Growth scans at 28 and 34 weeks show that baby’s limbs and long bones were continually at the 5th percentile, which didn’t help alleviate our fear of skeletal dysplasia. There were no other signs of skeletal dysplasia like frontal bossing etc and the new gynae that we switched to was confident that nothing was wrong.

well, I gave birth two weeks back and finally managed to get my answer! PD was able to confirm that my baby looks perfectly normal and proportionate and there is no signs of dwarfism! Hence would like to encourage all mummies and daddies here to really take ultrasound results with a pinch Of salt, it sometimes can be Inaccurate!!! My recommendation would be to Find a good gynae who can guide you through this whole experience and give you good and credible advice.