Comments on: A less common motivation for prenatal diagnosis http://thednaexchange.com/2010/01/22/%e2%80%9ci-do-not-want-to-be-pregnant-but%e2%80%a6%e2%80%9d/ Thu, 09 Sep 2010 07:25:44 +0000 hourly 1 http://wordpress.com/ By: Wayne Andersen http://thednaexchange.com/2010/01/22/%e2%80%9ci-do-not-want-to-be-pregnant-but%e2%80%a6%e2%80%9d/#comment-595 Wayne Andersen Sun, 09 May 2010 03:36:25 +0000 http://thednaexchange.com/?p=744#comment-595 Hey there, I was just browing the net and came across your site . Thought I'd say hi and tell you that I've enjoyed my visit here, hope you have a wonderful day ! Hey there, I was just browing the net and came across your site . Thought I’d say hi and tell you that I’ve enjoyed my visit here, hope you have a wonderful day !

]]> By: Marco Sibrian http://thednaexchange.com/2010/01/22/%e2%80%9ci-do-not-want-to-be-pregnant-but%e2%80%a6%e2%80%9d/#comment-462 Marco Sibrian Sat, 13 Mar 2010 18:02:41 +0000 http://thednaexchange.com/?p=744#comment-462 . . .information is so vast online, it's great great to see someone with knowledge about healthy pregnancies post good useful information. Keep up the good work! Cheers . . .information is so vast online, it’s great great to see someone with knowledge about healthy pregnancies post good useful information.

Keep up the good work!

Cheers

]]> By: gcBrianne http://thednaexchange.com/2010/01/22/%e2%80%9ci-do-not-want-to-be-pregnant-but%e2%80%a6%e2%80%9d/#comment-351 gcBrianne Tue, 02 Feb 2010 03:31:30 +0000 http://thednaexchange.com/?p=744#comment-351 I have had a few patients I suspected of wanting to take the risks of a diagnostic test in order to heighten the chance of miscarriage, but I could never really prove my suspicions nor did the patient ever admit to such wishes. I also have had two experiences (in five years working in the prenatal setting) in which a patient was either disappointed or upset by "normal" test results. Each situation made a very strong impression on me and changed the way I counsel. In one situation, my patient was hoping the FISH results from her amnio would reveal T21 in her fetus with a cystic hygroma because the other alternative was SMA "type zero." Her third child had died from the condition a few days after birth (prior to the current pregnancy), and relative to having a child with SMA, having a child with Down syndrome was desirable. "At least babies with Down syndrome have a chance of survival," she reasoned. She was devastated when I called with the typically "good news" of normal FISH results and pursued termination of the pregnancy when molecular testing came back a few weeks later diagnosing SMA. The other situation was a patient who was hoping for a diagnosis of a chromosomal abnormality on amnio karyotype so that she would have justification for terminating her pregnancy. The only abnormality seen on ultrasound was a two-vessel cord, yet one marker was one marker too many for her. Some investigation into her home life revealed that her toddler daughter was hospitalized in serious medical condition at the time, and the idea of terminating a pregnancy was less upsetting to the patient than the thought of having to care for two ill children. After initially panicking over the normal karyotype, she opted to continue the pregnancy, and the baby had no issues after birth. These two particular situations caused me to rethink the meaning of "good news," and I am very cautious when I use that term with patients. I have had a few patients I suspected of wanting to take the risks of a diagnostic test in order to heighten the chance of miscarriage, but I could never really prove my suspicions nor did the patient ever admit to such wishes.

I also have had two experiences (in five years working in the prenatal setting) in which a patient was either disappointed or upset by “normal” test results. Each situation made a very strong impression on me and changed the way I counsel.

In one situation, my patient was hoping the FISH results from her amnio would reveal T21 in her fetus with a cystic hygroma because the other alternative was SMA “type zero.” Her third child had died from the condition a few days after birth (prior to the current pregnancy), and relative to having a child with SMA, having a child with Down syndrome was desirable. “At least babies with Down syndrome have a chance of survival,” she reasoned. She was devastated when I called with the typically “good news” of normal FISH results and pursued termination of the pregnancy when molecular testing came back a few weeks later diagnosing SMA.

The other situation was a patient who was hoping for a diagnosis of a chromosomal abnormality on amnio karyotype so that she would have justification for terminating her pregnancy. The only abnormality seen on ultrasound was a two-vessel cord, yet one marker was one marker too many for her. Some investigation into her home life revealed that her toddler daughter was hospitalized in serious medical condition at the time, and the idea of terminating a pregnancy was less upsetting to the patient than the thought of having to care for two ill children. After initially panicking over the normal karyotype, she opted to continue the pregnancy, and the baby had no issues after birth. These two particular situations caused me to rethink the meaning of “good news,” and I am very cautious when I use that term with patients.

]]> By: DS http://thednaexchange.com/2010/01/22/%e2%80%9ci-do-not-want-to-be-pregnant-but%e2%80%a6%e2%80%9d/#comment-327 DS Tue, 26 Jan 2010 15:50:28 +0000 http://thednaexchange.com/?p=744#comment-327 This is an interesting way to approach the decisions around prenatal diagnosis that perhaps I have not considered before. Thinking back to my clinical experiences I cannot say that I have really encountered these underlying feelings or motivations for testing in an otherwise healthy fetus. However, I also work in a Fetal Care settings in which we see fetuses specifically with birth defects. Patients visit our center in hopes of a diagnosis and/or possible intervention. In many of these cases, without a diagnosis, the outcome can be extremely variable and unpredictable until birth. It is these cases in which I have seen families relieved when there is a genetic diagnosis made as they at least have a more defined prognosis and recurrence risk. It also seems to "justify" the decision of termination if such a decision is made. However, these are often wanted/planned pregnancies (which is different then the situations expressed in the column) yet it may be drawn as a parallel to how "bad" news is interpreted as "good" news. So while it seems clear that these patients need the extra support and counseling, perhaps I should begin to look closer at the less obvious cases as well. Thank you for your insight. This is an interesting way to approach the decisions around prenatal diagnosis that perhaps I have not considered before. Thinking back to my clinical experiences I cannot say that I have really encountered these underlying feelings or motivations for testing in an otherwise healthy fetus. However, I also work in a Fetal Care settings in which we see fetuses specifically with birth defects. Patients visit our center in hopes of a diagnosis and/or possible intervention. In many of these cases, without a diagnosis, the outcome can be extremely variable and unpredictable until birth. It is these cases in which I have seen families relieved when there is a genetic diagnosis made as they at least have a more defined prognosis and recurrence risk. It also seems to “justify” the decision of termination if such a decision is made. However, these are often wanted/planned pregnancies (which is different then the situations expressed in the column) yet it may be drawn as a parallel to how “bad” news is interpreted as “good” news. So while it seems clear that these patients need the extra support and counseling, perhaps I should begin to look closer at the less obvious cases as well. Thank you for your insight.

]]> By: EmilyB http://thednaexchange.com/2010/01/22/%e2%80%9ci-do-not-want-to-be-pregnant-but%e2%80%a6%e2%80%9d/#comment-325 EmilyB Fri, 22 Jan 2010 17:41:37 +0000 http://thednaexchange.com/?p=744#comment-325 Thank you for this thoughtful column. I had an AMA patient this week with an unplanned pregnancy who pursued CVS, not necessarily in "hopes" of an abnormal result, but certainly wanting this information to include in her decision-making process. The preliminary results were normal. As I wait for the final results, I am thankful for your point about continuing to engage in the decision-making process with the patient. Normally I would just call her with the final results and refer her back to her MD, but in fact my set of GC skills might make me the ideal person to help her further explore her decision. A great reminder that "good news" doesn't mean the same thing to everyone and to keep an open mind about expanding our role. Thank you for this thoughtful column. I had an AMA patient this week with an unplanned pregnancy who pursued CVS, not necessarily in “hopes” of an abnormal result, but certainly wanting this information to include in her decision-making process. The preliminary results were normal. As I wait for the final results, I am thankful for your point about continuing to engage in the decision-making process with the patient. Normally I would just call her with the final results and refer her back to her MD, but in fact my set of GC skills might make me the ideal person to help her further explore her decision. A great reminder that “good news” doesn’t mean the same thing to everyone and to keep an open mind about expanding our role.

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