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Reports showed fetal cardiac activity and somatic activity are present. What is Down's syndrome risk?

DOCTOR OF THE MONTH - May 2014
May 2014
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Radiologist
Practicing since : 2002
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Question
CRL = 53.8 mm, corresponding to 12 weeks,
nuchal translucency = 1.7 mm
free beta HCG = 156mlU/ml
PAPP-A 2016mlU/L at 05 Sept 2013
Weight = 59kg, Hight 172 cm
What is the Down's Syndrome Risk
foetal cardiac activity and somatic activity are present. fetal calvarium, stomach bubble & limbs are visualised. nasal bone visualized
calculated edc 20/03/2014
chrorionic frondosum diffusely seen anterior
no retrochorionic heamorrhage present
there are no focal uterine masses seen XXXXXXX cervical os is closed. cervical length is normal
no pelvic adnexal mass lesion seen
no free fluid in POD

thanks in advance
Posted Mon, 14 Oct 2013 in Pregnancy
 
 
Answered by Dr. Vivek Chail 9 hours later
Brief Answer:
Please reconfirm free beta HCG and PAPP-A

Detailed Answer:
Hi,
Thanks for writing in to us.

I will explain the ultrasound scan findings in detail.

1. CRL = 53.8 mm, corresponding to 12 weeks,
The crown rump length (length of the fetus in its earliest stage) is corresponding to 12 weeks pregnancy.

2. nuchal translucency = 1.7 mm
This is the thickness of skin fold behind the neck region in a fetus. It is normal in you.

3. free beta HCG = 156mlU/ml
I WOULD LIKE TO RE CONFIRM THE VALUE ONCE AGAIN. IS IT 156mIU/ L or 15.6mIU/L. Also please tell me if any MoM is mentioned in the report.

4. PAPP-A 2016mlU/L at 05 Sept 2013
Pregnancy Associated Plasma Protein-A (PAPP-A) level is 2016mIU/L . I would like to know if there is MoM mentioned for PAPP-A levels

5. Weight = 59kg, Hight 172 cm
Weight is in normal limits for height.

6. What is the Down's Syndrome Risk
At age 23 years the risk of Down's syndrome is 1:1400 which is very less.
In the first trimester of pregnancy the PAPP-A level is, on average, low in Down's syndrome pregnancies (about half that of unaffected pregnancies), and the nuchal translucency measurement and free ß-hCG levels are, on average, high (about double that of unaffected pregnancies).

7. foetal cardiac activity and somatic activity are present. fetal calvarium, stomach bubble & limbs are visualised. nasal bone visualized.
The heart of the fetus is active and the other structures visualised like skull, stomach and limbs appear normal.

8. calculated edc 20/03/2014
Expected date of delivery is 20 March 2014.

9. chrorionic frondosum diffusely seen anterior
The embryonic portion of placenta (chorionic frondosum) is normal.

10. no retrochorionic heamorrhage present
No bleeding is present within the uterus at implantation site.

11. there are no focal uterine masses seen
There is no other abnormal area seen in the uterus.

12. XXXXXXX cervical os is closed. cervical length is normal
Mouth of the uterus is closed and length of the cervix is normal.

13. no pelvic adnexal mass lesion seen
No other abnormal structure seen outside the uterus.

14. no free fluid in POD
No abnormal fluid seen behind the uterus.

I would request you to please attach the scanned copy of the report to your query and reconfirm the free beta HCG and PAPP-A values and MoM value if mentioned.
Rest of the findings are within normal limits.

Waiting for an update from your end.

Regards,
Dr.Vivek
Above answer was peer-reviewed by
 
Follow-up: Reports showed fetal cardiac activity and somatic activity are present. What is Down's syndrome risk? 1 hour later
thank you sir for your reply

i have uploaded the scan and double marker test reports, please go through it, is it possible to recalculate the risk level, if so kindly give your estimation

free beta HCG = 156mlU/ml (lab report attached) MoM = 4.14


PAPP-A 2016mlU/L ; MoM = 0.84

With Regards
 
 
Answered by Dr. Vivek Chail 4 hours later
Brief Answer:
Down's risk re-calculated is 1:851 as given below.

Detailed Answer:
Hi,
Thanks for writing in with an update.

I have re-calculated the risk for Down’s syndrome as desired by you.
The earlier risk calculated as 1:231 is calculated by studying free beta HCG and PAPP-A levels.

There is a lot of importance attached to Nuchal translucency (NT) and CRL in calculating risk of Down’s syndrome. I have estimated the risk once again by studying free beta HCG, PAPP-A levels and Nuchal translucency with CRL. In your report NT is 1.7 mm and that is a perfectly normal value (upto 3 .0 mm) and CRL is also normal for pregnancy age.

The new risk calculated using standard software is given below

Age Risk 1:1466
Trisomy 21 Risk (Down’s) 1:851
Trisomy 18-13 Risk < 1:0000

It is observed that a Down's syndrome risk of 1:851 is equal to the normal risk if the mother’s age is 30-31 years.

Hope your query is answered.
Do write back in case of doubts.

Regards,
Dr.Vivek
Above answer was peer-reviewed by
 
Follow-up: Reports showed fetal cardiac activity and somatic activity are present. What is Down's syndrome risk? 51 minutes later
once again thanks a lot, now I think there is no need of worry...., am I?

our Doctor suggested us to go for Amniocentesis, is there any need to do this?

or is it safe, first go for a Triple Screening test, if that also suggest a down's syndrome risk, then go for Amniocentesis

or our baby is safe and there is no need for further studies?

please give your valuable advice.

With Regards
 
 
Answered by Dr. Vivek Chail 1 hour later
Brief Answer:
Triple test is recommended before aminocentesis.

Detailed Answer:
Hi,
Thanks for writing in to us again.

I re-confirm that the risk for Down’s is lesser than what was given earlier and I have tried to evaluate the risk by taking 4 factors instead of earlier calculation where only free beta HCG and PAPP-A were taken. Therefore the risk has decreased from 1:231 to 1:851 which is a good thing.

Details of aminocentesis is given below

Amniocentesis
After counselling, amniocentesis is offered from the time 15 weeks of pregnancy if there is a higher-risk result for Down's syndrome.

What happens at amniocentesis
Using ultrasound as a guide, a fine needle is passed through the wall of the lower abdomen into the amniotic fluid that surrounds the baby inside the uterus (womb). The cells within the fluid contain the same chromosomes as the baby. A small sample of this fluid is withdrawn and sent to a laboratory for testing. A local anaesthetic is not usually used, and most women feel only mild discomfort. The test takes 5-10 minutes.

The fluid will be tested for Down's syndrome and other chromosomal abnormalities. The results for Down's syndrome and other common chromosomal abnormalities.

The risks of pregnancy loss in doing aminocentesis
Amniocentesis has a 0.5%-1% risk of causing a miscarriage. At most, one test in a hundred will result in pregnancy loss. When deciding whether or not to have this test, try to balance the risk of miscarriage with how important the result will be to you.

Please find details about triple test given below.

The triple screen test is a maternal blood screening test that looks for three specific substances: AFP, hCG, and Estriol.

AFP: alpha-fetoprotein is a protein that is produced by the fetus.
hCG: human chorionic gonadotropin is a hormone produced within the placenta
Estriol: estriol is an estrogen produced by both the fetus and the placenta
It is a non-invasive procedure done through a blood test with little to no known risk to the mother or developing baby.

What does the triple screen test look for?
The triple screen is measuring high and low levels of AFP and abnormal levels of hCG and estriol. The results are combined with the mother’s age, weight, ethnicity and gestation of pregnancy in order to assess probabilities of potential genetic disorders.

High levels of AFP may suggest that the developing baby has a neural tube defect such as spina bifida or anencephaly. However, the most common reason for elevated AFP levels is inaccurate dating of the pregnancy.

Low levels of AFP and abnormal levels of hCG and estriol may indicate that the developing baby has Trisomy 21(Down syndrome), Trisomy 18 (Edwards Syndrome) or another type of chromosome abnormality.




I would like to bring it to your notice that doctors in UK recommended national cut-off level for risk at 1:150 and aminocentesis is done for this high risk group only. Having said that, I would suggest you go for triple test and then if really needed aminocentesis can be done.




It is important to know whether your doctor has discussed the risk of Down’s after seeing only the lab reports? Did they re-calculate the risk including the CRL and NT measurements and then suggest aminocentesis? This requires a detailed discussion with your doctor.



However you should not worry because risk is 1:851. The only benefit in doing aminocentesis is that it is more than 99% accurate in diagnosis of Down’s but there is 1% risk in losing the baby.



Finally I would recommend you to do triple test and discuss the risk with your doctor.

Hope your query is answered.
Do write back if you have doubts.

Regards,
Dr.Vivek.
Above answer was peer-reviewed by
 
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