Amniocentesis or NOT?
One day I had the opportunity to spend the morning with a Genetics Counselor. We had a 42-year old patient present to the clinic with her spouse. She has had 8 miscarriages in the past (with 3 being in the 2nd trimester). She is now 18 weeks pregnant again and been told that her quad screen came back positive for Trisomy 18. So now we have a few issues here. The woman is AMA and she now has a positive Quad Screen and she also has a family history of miscarriages to include her sister and mother. The Genetics counselor explained to her that the reasons for all the miscarriages were more likely due to genetics/chromosomal abnormalities. The patient had a ROB prior to arriving to her appointment with the genetics counselor and was never told of her Quad Screen results until her appt with us. The patient denied any reason to believe what the genetic counselor was saying to be true. The Genetics Counselor recommended the patient receive an US as well as Amniocentesis. The counselor told the patient and her husband that the benefits of her going through with it. She also talked to the patient about the risks, which included miscarriage. The patient, concerned, began to speak about going through with it, when the spouse interrupted and stated that he definitely did not want any counseling to be done. He mentioned that they have gone through a lot with these past 8 miscarriages and have even sought treatment with the infertility clinic in Virginia and also having a cervical cerclage to ensure that she could maintain the pregnancy in case that was the issue for all her miscarriages. Both parents agreed not to do any further testing to include refusal of an Ultrasound. The patient stated that she believed that her God would provide for them a healthy baby boy and that she did not need to be followed up. I felt as if the genetic counselor could have been a little more sympathetic as well as informative to the patient. The patient was scared upon entry to the office and had no idea why she was even referred to the Genetic Counselors Office. So there was a lack of communication on some providers part. Then she enters this office and “boom” all of this information is thrown at her. If I were in the patients shoes, I would be extremely overwhelmed and would find it hard to maintain my composure. Here I am ecstatic about finally having a baby. Convinced that I am having this happy baby boy only to find out that I might be having a baby with Trisomy 18… Sad…..:o(
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After reading many postings about sequential and Quad screens i'm beginning to dislike them. Really, what are parents to do with a positive screening...get really scared and anxious for the rest of the pregnancy because many will not abort a fetus at 18+ weeks anyways. Those that do abort will always wonder if they made the right decision and those that do not will have to endure multiple visits to the Ob office...Again many parents curse these test b/c they cause so much heartache regardless of what the TRUE outcome is. In my opinion they should not offer this test.
ReplyDeleteI believe we as providers are responsible for making sure our patients are fully educated/counseled by us about all of the screening/diagnostic evaluations available during all phases of prenatal and pregnancy testing. All patients are offered screening tests due to the significant morbidity and mortality associated with congenital anomalies.
ReplyDeleteOur patients can make educated/informed consent decisions whether to have testing and then what they would do with the results based on our counseling them and answering their questions/concerns.
In clinical practice I have seen those patients who decline testing as it will not change the outcome the parents plan-to love and care for their newborn child no matter what. I have also seen patients who want to know testing results in order to prepare for the possible "extra care needs" of their baby", and I have not seen it, but there is the possibility of patients choosing to safely terminate their pregnancy after receiving test results.
There are also certain congenital anomalies like structural abnormalities that can be addressed in utero when detected early through certain testing, like cardiac valve problems, diaphragmatic hernias, tracheal defects, and myelomeningoceles.
Great discussion. I posted a comment earlier on this topic. I'm just glad you're all dialoguing about it.
ReplyDeleteDitto on what Capt Reyes said. I saw several patients that did not seem to understand that 1st/2nd trimester screens do not provide definitive diagnoses. It was difficult to explain to them that they were only precursors to other tests if it was show they were at higher risk for their fetus having an anomaly.
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