Tuesday, June 8, 2010

to test or not to test? ...that is the question

A great deal of research is being done on the decision making process as to whether or not mothers should undergo prenatal testing. The answer seemed quite obvious to me, why wouldn’t you want to make sure your child was healthy…right?

First it’s important to distinguish that there are two types of prenatal testing: invasive and non-invasive. A non-invasive prenatal test, for example, is an ultrasound. An ultrasound is a procedure that uses high-frequency sound waves to examine a woman's abdomen and pelvic cavity, creating a picture (known as a sonogram) of the baby and placenta. Invasive procedures, which include amniocentesis or chorionic villus sampling (CVS), tend to be diagnostic tests to determine if specific genetic disorders may be present in the baby. An amniocentesis, for instance, is a procedure where a sample of amniotic fluid is collected through a needle from the amniotic sac. The amniotic fluid contains cells shed by the fetus, and is sent to the laboratory for analysis. Prenatal testing, depending on the particular test, occurs throughout the three trimesters of pregnancy. The American Pregnancy Association website provides detailed profiles on the major prenatal tests, divided into trimester-specific tests. For more information you can visit: http://www.americanpregnancy.org/prenataltesting/.

So, why did I choose this topic? Well, my future aspirations are to become a genetic counselor. A genetic counselor is a healthcare professional that provides information and support to families who have members with birth defects/genetic disorders or to families who may be at risk for a variety of inherited conditions. They identify at risk families, investigate the problem, interpret information about the disorder, analyze inheritance patterns and risks of recurrence, and finally, they assess available options with the family. They also serve as educators and a resource for other healthcare professionals and for the general public[1]. This, of course, all applies to helping pregnant women make informed decisions based on test results, and hopefully reduce any decisional conflict they might have.

However, it is important to consider all of the medical, ethical and social concerns that come with prenatal screening/diagnostic testing. All aspects have to be taken into account because this is an extremely touchy subject. Examples include:

-It is important to be sensitive to their beliefs as well as respect their wishes, remaining unbiased in the process.

-It is imperative the mother has a chance to voice her opinion, but if both parents do not see eye to eye it can complicate the situation.

-Certain ethical decisions may have to be made concerning the life of the baby and/or the life of the mother.

Researchers at the University of California San Francisco conducted a study exploring the decision making process involved with invasive prenatal testing after infertility[2]. Researchers found that a history of infertility affects the decision making process about whether or not to undergo invasive prenatal testing. The results of the study would reveal valuable information for heath care providers and genetic counselors and could help in how they should approach apprehensive patients conflicted with the decision, minimizing conflict and thereby enhance informed choices. After questioning 180 pregnant women (who had a history of infertility) results revealed: 69% of the women declined testing; 42% of the women declined prenatal testing on the grounds that infertility had made them unwilling to take the risk of potentially having a miscarriage as a result of the test; 26% reported that testing was unnecessary because they would accept any baby regardless; only approximately 6% of the women felt medically informed enough to weigh their options clearly and opted for the testing. Several variables, both social and ethical, went into their decision making process.

Given that this study focused solely on women with fertility issues we can hardly conclude that these results reflect the decisions of the majority of women in the US, nor do they reflect the general opinion on prenatal testing. Still the process of prenatal screening/diagnostic testing is controversial and raises many ethical issues. This is a very touchy subject, especially when considering the ethical and social aspects. I think that in the scientific and medical community there is a constant battle between science and faith/belief/emotion, etc…. How do you set your own beliefs aside and acknowledge or go along with those of others? As a future genetic counselor I look forward to exploring this dichotomy and helping families through such a process. Personally I’m an advocate of prenatal testing. I’d prefer to know that my child is healthy and safe rather than have to face potentially losing it early in life or having it grow up and live with difficulties the rest of their life. One thing is for certain, it is important that we educate the public and keep families aware so that they may make informed decisions.



[1] http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling.shtml

[2] Caleshu, Colleen; Shiloh, Shoshana; Price, Cristofer; Sapp, Julie; Biesecker, Barbara.Invasive prenatal testing decisions in pregnancy after infertility”. Prenatal Diagnosis. Volume 30, Issue 6. June 2010, Pages: 575-581

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