Should I go in for amniocentesis?

Q: I am 21 weeks pregnant and its my third pregnancy. I have two healthy kids conceived naturally. This was conceived by fertility treatment as I underwent IUI. I never felt severe nausea so thought it to be singleton but at 7 weeks ultrasound found that there were triplets so the doctor advised genetic counseling but I went for direct reduction from triplets to singleton. At 17 weeks they did a blood test where my report came with high level of AFP 9.54 and below detectable range of UE3, ultrasound was done where everything looked normal. With the doctors permission, we went for a detailed ultrasound which was normal but they wanted to do amniocentesis. I asked if it was necessary when the ultrasound was normal but the doctor said that the ultrasound may be normal but you may have some chromosomal deformities which they cannot find through ultrasound. My husband did not want to take any immediate action as we went in for the ultrasound and without talking to our gynaec we cannot take any further step and at that time our gynaec was out. Why did this happen?

A:The purpose of this site is to make people aware of medical and scientific facts which may help them take rational decisions and make informed choices in their life! I hope this is your priority. Scientific decisions cannot be made on emotional fears alone. Well for a start. The tests like triple test are very difficult to interpret and the decision to perform or not to perform Amniocentesis is based on a lot of religious, social cultural and medical factors. The test can only be interpreted by the physician who orders and the lab which conducts the test. The readings you have sent are indeed low, but need to be interpreted against the lab medians (from the lab which conducted the test) to say what is the exact risk of you having an abnormal child. Ultrasound is at best a collaborative tool at making a diagnosis of chromosomal abnormalities and if there is reasonable doubt from triple test amniocentesis must be done. This entails a risk of abortion which you will have to take if you want a firm diagnosis of the unborn child. From your letter I get an impression that you are very keen on having this child (which indeed everyexpectant couple is and should be) and do not want to take any risk of abortion (which amniocentesis entails) to make a firm diagnosis. I am not sure that can be sorted out at this stage. If you want a firm diagnosis you will have to take the risk of abortion that you run if you get an amniocentesis done. There is also a risk that amniocentesis will not be successful. In a small but significant number of cases cell cultures can fail in the lab and Karyotyping which is done to give a diagnosis of chromosomal abnormalities may not be possible despite amniocentesis. This much should be clear to you at this stage. You should know all this and read all about amniocentesis before making a decision. The only way you can rule out downs syndrome like disorders at this stage is by amniocentesis. Ultrasound though less invasive will never be conclusive (a little doubt of abnormality will always remain). Since so much manipulations have been done with this pregnancy right from pre-conceptional stage it may be wise to get all tests done and not depend on Ultrasound alone to exclude abnormalities. I cannot understand what you mean by saying that the two normal children you already have were conceive naturally and now you are carrying a third pregnancy which you conceived by “infertility” treatment? since you are only 30 years old! (according to the date of birth you have written) I am not sure you have not been labeled infertile in a hurry and some form of ‘over-treatment’ has been given to you. How can someone who conceived twice naturally be called infertile. Was this a long time ago? How come you needed infertility ‘treatment'? Why was an IUI with Hyperstimulation done? In your case many things do not fall in place as far I can see. Was a sperm sorting of some sort also done? And why was hyperstimulation done? The doctors who did any of these techniques would have explained to you the risk of multiple pregnancy and possible abnormalities in the child. As any interference in nature would increase the chance of an abnormal conception. Any laboratory manipulation amounts to fooling around with nature this would increase your chances of having an abnormal child! In IUI the sperm wash interferes with the process of natural selection devised by nature over millions of years and such manipulations lead to abnormal conceptions. Indeed ‘tagging’ for sperms done sometimes in a belief of choosing sperms with a particular attribute increases your risk of abnormality in the child. You also want to know what was the urgency for amniocentesis? Well amniocentesis yields good quality fetal cells till a particular age which should be harvested and cultured. Late you have to take the fetal blood sample to look for chromosomes (Fetal blood sampling is a more complicated technique and only a few people in India do it and perhaps has a higher rate of fetal loss than amniocentesis) in good hands it is safe and yields faster and more accurate results. For this you will have to go to a recognized fetal medicine center and amniocentesis can be done by many more obstetricians at many more centers. The issue should be resolved as soon as possible and you should have a clear answer. God unwilling if the results are abnormal you should know soon so that you can do something about it, that is they should be available at a time when abortion is an available option, and not of an academic interest only.