A 37 years old woman is considering pregnancy in next few months. She is anxious about her risk of Down syndrome and has come to you regarding prenatal counseling. Your task is to counsel her.
Management
History of other risks such as DM, HT
FH of chromosomal abnormality: Down’s syndrome, cleft lips, cleft palate
Tell about the risk of Down’s syndrome is each age group, compared to normal population
Prenatal screening process for down syndrome
Risk of fetal loss during the procedure
If test is positive, refer to genetic counseling
Ask if the tests are positive, what is she going to do? The investigation is not covered by medicare
Other screening for preconception: Rubella, VZ, chicken pox
Folic acid 3 months before and after conception
Fact about Down’s syndrome screening
Risk of Down’s syndrome:
Normal population 1:600-700
30 1:350-400 35 1:250 37 1:200
if you miss a period and especially if it is accompanied with tummy pain.)
Pamphlet to consider. Make appointment any time when you have made up your mind.
A 37 years old woman is considering pregnancy in next few months. She is anxious about her risk40 1:100 43 1:50
risk of 2nd child is 1:100
Screening test
Ultrasound for nuchal fold at 11-14 wk (12, first trimester)
Maternal serum test for -hCG (), AFP and estriol () at 15 wk (second trimester): These 2 tests can detect 85-90%, false positive 1%, if both are positive, then this is high risk pregnancy, have to
Amniocentesis at 16 wk, can detectlly if it is accompanied with tummy pain.)
Pamphlet to consider. Make appointment any time when you have made up your mind.
A 37 years old woman is considering pregnancy in next few months. She is anxious about her risk 100%, fetal loss 0.5-1 % (1:200)
(Hello Mrs……., I’m Dr……… How are you today? As far as I know, you want to get information about risk of Down’s syndrome, is that correct? Before we get to that point, I would like to ask you some questions, related to your planned pregnancy, is that O.K?
You are 37 years old, is this your 1st pregnancy?
Do you have any other medical problems such as high blood pressure, diabetes?
Is there any genetic problems in your family such as Down’s syndrome, cleft lips or cleft palate?
What do you about Down’s syndrome?
Down’s syndrome is a genetic disorder that associated with advanced age mothers. The normal number of chromosomes is 46 (23 matched pairs). Chromosomes are the blueprint for the body's development. They are found in every cell in our body and determine our physical and mental characteristics. People with Down syndrome have an extra chromosome that results in reduced intelligence and characteristic physical features. In general population, the risk of having a Down’s syndrome baby is 1:600-700 and increased to 1 in 100 in 40 year-old mothers. In your case, at 37, the risk is about 1 in 200. You can get pregnant even though it is a high risk pregnancy as there are screening tests to detect Down’s syndrome number of chromosomes is 46 (23 matched pairs). Chromosomes are the blueprint for the body's development. They are found in every cell in our body and determine our physical and mental characteristics. People with Down syndrome have an extra chromosome that results in reduced intelligence and characteristic physical features. In general population, the risk of having a Down’s syndrome baby is during early pregnancy. Do you have any idea about that?
Firstly, we can do ultrasound to detect any abnormality in fetus in the 1st trimester and then take blood sample from you to analyze in the 2nd trimester. There are several chemistries in you blood that can be tested, if they are higher or lower than normal, it can be suspected for Down’s syndrome and some abnormalities in baby. These two screening tests can detect about 85-90%, if both tests are negative, it is less likely to have a Down baby. On the general population, the risk of having a Down’s syndrome baby is other hand, if both tests show abnormal results, you will be then put in a high risk group and need to have another test done, which is a diagnostic test with 100% accuracy to detect Down’s syndrome. It is an invasive procedure, which called “Amniocentesis”, have you heard about that?
Obstetrician will put a needle through your abdomen and womb to get cells of the baby from the fluid around him or her and then analyze. By this procedure, you can know the conclusive result whether the baby has Down’s syndrome or not.
However, this procedure might damage the fetus but the percentage is quite low, about 0.5-1%, which is 1 in 200 of fetal loss. In you case, this chance is as same as the chance of having a Down’s syndrome baby.
If your first 2 tests are normal, it is a very good news, if not, you still have a choice to have the confirmation test or not, it is all up to you. Even if the result show abnormal gene, it is also your choice to continue your pregnancy or terminate. You have to think about these things carefully, as the test is not covered by medicare.
Have you seen children with Down’s syndrome?
They share similar characteristics as well as inherit from their own parents. They are likely to have other medical problems such as heart disease, hormonal disorder and might have difficulty in feeding. However they can actually live in normal environment with some super-visions and they are quite loveable, fun and enjoy music.)
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