I am present in many online forums for hopeful parents through IVF and/or surrogacy. I am often the first person clients and friends connect with to talk out any decisions they need to make on their surrogacy journey. One of the biggest decisions Intended Parents need to make is whether to invest in genetic testing. I have had to make these decisions myself and continue to support clients and friends through decisions about genetic testing.


There are many options for genetic testing throughout the IVF process.


At the time of embryo creation, embryos can undergo testing for specific genetic conditions (called PGD, preimplantation genetic diagnosis) or screening for normal chromosome copy number (called PGS, preimplantation genetic screening).


Options For Prenatal Testing


During pregnancy, there are many more options for testing to help ensure the baby will be healthy. Tests and screening procedures include screening for inherited conditions, screening for Down’s, Edwards’ and Patau’s syndromes, and screening for abnormalities including cleft lip, open spina bifida, and heart abnormalities.


Advanced Prenatal Testing


If you’re willing to invest more (emotionally and financially) into your testing or you receive abnormal results during screening you have options for more testing including amniocentesis and The Harmony Test (also referred to as Non-Invasive Prenatal Test). Both offer results with high accuracy, up to 99%, but what about the other 1%?


Genetic Testing For A Healthy Baby


This is the thing: All parents want a healthy happy baby! You can undergo every available test but none of those tests are 100% accurate. As a result of genetic testing, perfect embryos are discarded, and embryos deemed healthy are miscarried as blighted ovum (an early miscarriage usually due to chromosomal abnormalities). Healthy pregnancies are terminated because of inaccuracies in prenatal testing and babies are born with chromosomal abnormalities, cleft lips and palates, heart conditions and other birth defects when all the prenatal testing looked great.


Not one of the genetic tests offered to hopeful parents is 100% accurate.


So, what is a hopeful parent to do when faced with the decision to have embryos tested or to invest in additional prenatal testing?


Making The Right Decision For Your Family


I think you first have to decide what you will do with the information once you have it (accurate or not). Obviously if your embryos undergo PGS or PGD testing the embryos that appear to be imperfect will be discarded. You take a risk either way and you must choose the risk that is right for you.


Many of the prenatal options for screening are routine. You can expect blood tests and ultrasounds throughout the pregnancy to watch for abnormalities. Amniocentesis is usually only offered if one of the routine tests shows a possible abnormality. The Harmony Test is costly and generally not “offered” by care providers. You would need to request a Harmony Test. Both amniocentesis and The Harmony Test have high levels of accuracy. Amniocentesis and the Harmony Test can both result in false positives and false negatives. The Harmony Test is usually preferred over amniocentesis because there is no risk of miscarriage or fetal injury.


How will you use the information you are given?


Again, it is important to consider what you will do with any information you receive from amniocentesis. Will you use the information to prepare for raising a child with possible abnormalities? Will you choose to terminate the pregnancy? Without knowing how you will use the information prior to receiving it you can be in a very difficult situation.



Final Thoughts


You have to do what is right for you. You may decide to undergo all of the test, some of the tests or only the routine tests. Talk about your screening and testing options with your doctors. Make decisions about how you will use the information you are given following a test, before having the test done and remember, the only wrong choice is the one that isn’t right for you!

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