Pregnant. Suggested For Quad Screening Test And Harmony With Y Analysis. Meaning?

Posted on Thu, 4 Jul 2013

Question: Hello Doc,

My wife is 15 weeks pregnant. During our recent visit to Doctor, Doc has suggested to take the below tests.
1) Quad screening test
2) Harmony with Y Analysis.

Could you please explain about above test. I have a question about the second test, why Doc asked to take Y Analysis, why not X analysis.

Thanks.

Answered by Dr. Dr. Rakhi Tayal (2 hours later)

Hello,
Thanks for posting your query.
The quad screening test (sometimes referred to as the quadruple screen, AFP4, or multiple marker) is a blood test that can tell you whether your baby is at an increased risk for certain problems. The conditions it screens for are Down syndrome and trisomy 18, which are chromosomal abnormalities, as well as neural tube defects, such as spina bifida.
The quad screen is done in the second trimester, usually between 15 and 18 weeks of pregnancy.
Harmony Prenatal Test with Y Analysis is a non-invasive test that detects fetal trisomies 21, 18, and 13 and analyzes the Y chromosome for any abnormalities.
The specific Y Analaysis is done as it can provide information on fetal sex and aneuploidy with 99% accuracy. X chromosome is present both in male and female fetuses.
Y aneuploidy is estimated to be present in approximately 1 out of every 1,000 male newborns. It is more common than other autosomal aneuploidies. So, it is preferred to do a Y chromosomal analysis also.
Hope this answers your query. I will be glad to answer the follow up queries that you have.
Please accept my answer in case you do not have further queries.
Wishing you good health.
Regards.
Dr. Rakhi Tayal.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dr. Rakhi Tayal (33 hours later)

Hello Doc,

Doctor has completed Quad test and he found my wife as positive for down syndrome. I wanted to understand the impact of this on Baby. BTW, the heart beat today is 155. I assume Heart Beat 155 at 15 weeks is normal.

Thanks.

Answered by Dr. Dr. Rakhi Tayal (50 minutes later)

Hello.
Thanks for writing again.
A positive Quad test for Down's syndrome means that levels of some or all of the substances measured in the blood were outside the normal range. This suggests the chances of having a baby with Down's syndrome are almost 80%. False positive can happen for various reasons, including:
A miscalculation of pregnancy time
A multiple pregnancy
In vitro fertilization
The presence of other medical conditions, such as diabetes
Smoking during pregnancy, etc.
Secondary tests like targeted ultrasound, chorionic villus sampling and amniocentesis are recommended to confirm if there is any chromosomal abnormality.
A heart beat of 155/minute is normal.
Hope my answer is helpful.
Do accept my answer in case there are no further queries.
Regards

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dr. Rakhi Tayal (12 minutes later)

Hello Doc,

Thanks for reply. My wife took HCG injections for eight weeks in first trimister. has it caused downsyndrome?

Thanks,

Answered by Dr. Dr. Rakhi Tayal (28 minutes later)

HCG is a natural hormone that is present in the body during pregnancy. It is given in pregnancy to support the placental function. It is not responsible for Down's syndrome which is a genetic chromosomal defect.
Regards.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dr. Rakhi Tayal (9 hours later)

My wife has HCG injections till 12 weeks. can it influence the QUAD test result. I am asking this because HCG is one of the substance measured in blood as part of QUAD test.

Answered by Dr. Dr. Rakhi Tayal (1 hour later)

Your wife had HCG injections till 12 weeks and she had a blood test at 15 weeks. The effect of these injections in blood does not stay for more than two weeks. These injections are not likely to cause a false positive result.
Regards.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dr. Rakhi Tayal (2 hours later)

Hello DOc,

Here are the test results from Lab.
AFP Value 31.8 ng/mL
AFP MoM 1.00
hcg Value 0000 mIU/mL
hcg MoM 2.21
uE3 Value 0.72 ng/mL
uE3 MOM 0.99
DIA Value 714.00
DIA MoM 3.63
OSBR Risk 1 IN 0000
DSR (Second Trimester) 1 IN 62
DSR (By Age) 1 IN 673
T18 Risk Not Increased
T18 (By Age) 1:2623

Can you please tell me which numbers not Normal.

Thanks,

Answered by Dr. Dr. Rakhi Tayal (20 minutes later)

The hcg MoM value of 2.21 is increased. The DSR- Down's syndrome risk ( second trimester) is 1 in 62 which is suggestive of a positive test.
At such a high risk, it is best to go for more specific tests like amniocentesis and chorionic villus sampling under the guidance of your obstetrician to confirm the diagnosis.
Regards.

Note: Revert back with your gynae reports to get a clear medical analysis by our expert Gynecologic Oncologist. Click here.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar