Did you get to make a choice?

check yes or noIn 2007, professional guidelines changed. Now, it is recommended that all expectant mothers be offered prenatal testing for Down syndrome. Previously, offering prenatal testing was limited to mothers termed “AMA” or advanced maternal age, i.e. 35 or older. When issuing its updated guidelines, ACOG issued a press release to clarify that the recommendation was simply to offer  prenatal testing for Down syndrome, not that expectant mothers should have prenatal testing. But how effective was ACOG’s clarification?

Even before the guidelines changed, researchers, like Sonia Mateu Suter, had documented instances where patients were not exercising independent choice in accepting prenatal testing. Suter termed this the “routinization” of prenatal testing. Prenatal testing was perceived as a “routine” part of prenatal care. As a result, voluntary choice was not exercised in accepting it when offered.

Routinization is all the more a concern in light of the developments in prenatal testing. Companies like Sequenom and Ariosa are now offering  non-invasive prenatal testing (NIPT), a new kind of test based on a mother’s blood sample. It can be performed sooner and without a risk of miscarriage, though it remains a highly sensitive screening test–not a diagnostic test. Even before NIPT was taken to market, however, scholars predicted that the option of sooner results with less risk for miscarriage would further undermine informed decisions on whether to accept prenatal testing for Down syndrome. As a good friend put it, NIPT will soon become “would-you-like-fries-with-that” option as expectant mothers provide a blood sample at the first prenatal care visit.

This issue of prenatal testing for Down syndrome remaining a medical decision that is respected as requiring independent, informed choice by the patient will be the subject of future posts. What was your experience with prenatal testing for Down syndrome? Was it offered or recommended? Were you given a choice about whether to accept prenatal testing for Down syndrome?

Comments

  1. Hi Mark, great new resource and blog – good stuff. The routine offering of screening is problematic as it implies that it is the “right thing to do” and an element of routine antenatal health care. In New Zealand we have successfully changed policy such that mothers are simply advised that screening is available, a subtle, but important shift in focus. See our press release for more details http://www.savingdowns.com/press-release-down-syndrome-screening-refocus-is-a-step-in-the-right-direction-says-saving-downs/

  2. Nina Fuller says:

    Mark – To answer your question in a round about way…My personal experience includes five pregnancies. My first four, 1981,1983, 1986 (sadly ending in a miscarriage) and1987 included routine blood work which was used to confirm by a medical professional something I already knew. “You are indeed pregnant, Mrs. Fuller.” Shortly after each announcement had a few moments to sink in, I was also offered additional tests, AFP, CVS, and possibly others that I had already blocked out. The 80’s were a couple decades ago so I don’t remember if the doctors were specific in stating that the additional tests were screening or diagnostic. As a young woman in my mid-to-late-twenties with no medical training I would not have known the difference back then. I do, however, remember asking “What are these tests for?” Each doctor was always nonchalant and replies were always to the effect that they were routine tests to make sure everything was alright with the baby. To that, I responded each time with conviction, “We will take whatever God gives us,” and silently hoping we would welcome a healthy baby boy or girl.

    My fifth pregnancy was in 1995, a full decade since I had been pregnant, with both advances in medicine and in my maternal age. At age 37 I was excited to have one more opportunity to bring new life, hopefully a girl after raising three boys, into our lives and family. As I had done in the past, I kindly declined the “routine” tests that were suggested. It never entered my mind at that point that I was already labeled in medical terms as “AMA” – Advanced Maternal Age.” My one concern was to learn if this baby was another boy (please, God, no!) or the sweet little girl I had been longing for. If we found out in advance, that would be great, but it didn’t really matter in the scheme of life if the baby was another boy or girl….as long as it was healthy….

    During what was called a “routine ultrasound” in my twentieth week of pregnancy, there were some areas of concern (i.e. markers) that were not conveyed to my husband and me during that exam. We walked away from that appointment, elated, discovering that our baby was a girl! That was all that was on my mind. My doctor called several days later to state that the ultrasound revealed a couple areas of concern and wanted me to come back for another ultrasound. She asked if I’d submit to an amniocentesis if the subsequent ultrasound warranted further exam, and she explained that there was a slight risk of spontaneous abortion, i.e. miscarriage, with the amniocentesis. “How much of a risk” was the question on my mind and we learned it was less than 1%. That meant there was a 99% chance of keeping the baby safe while learning if this baby developing in my womb had Down syndrome or another chromosomal abnormality.

    Let me interject here that I am not now or have ever been against prenatal testing for the sake of determining facts. My concern is two-fold: that women might be given biased pseudo-facts or truth based on a doctor’s perception of each woman’s intelligence or maternal abilities; that each woman might make a choice against life for the unborn baby based on mis-information and thus never get to realize the full extent of the possibilities of a wonderful life with that child.

    I did go through with the amniocentesis and anxiously awaited the results. The doctor’s office called and together my husband and I sat in her office to hear her tell us both that our baby girl, in utero, had Down syndrome. It was a definite diagnosis, not speculation or suspicion, or possibility. Trisomy 21. I remember asking questions. “Will I be able to have a normal delivery?” “Will I be able to breastfeed?” There was no discussion of termination between this doctor, my husband and me. My choice was clearly made years ago. “We will take whatever God gives us.” The words said so easily during the first four pregnancies were surely put to the test this time. My choice was still the same.

    Today, the little girl I had so very much longed for has become a beautiful, talented young woman any mom would be proud of. She has a great personality, making friends wherever she goes and loves being popular; she has the gifts of encouragement, determination, patience, happiness, gentleness, bravery, and she sparkles like sunshine wherever she goes. I know that I made the right choice in protecting her life from the very beginning.

  3. At age 39, with two children and three miscarriages, I was, of course, offered prenatal testing. I told the doctors that there is no news they could give me which would make me abort my child, so all the unreliable screening tests were ruled out (quad screen, etc). The nuchal fold test was not yet available, but I did do several sonograms for the health of my daughter since I had gestational diabetes. The tests told us to deliver Christina early because the placenta was wearing out, so I nearly did an amnio for the sake of determining if her lungs were mature enough at 35 weeks, by the way that is what amnio was originally intended for.
    Christina was born by c-section and scored the Apgar Scale with 9.9 despite weighing in at 5 lbs. Did I mention that she has trisomy 21?
    The doctors were SO surprised!

  4. Heather Trammell says:

    At my initial OB visit the PA felt like I was measuring large for gestational age and asked that I go to have an ultrasound to rule in/rule out twins. When I arrived, the tech said something along the lines of so, we’re looking for problems with the baby? I said, no we’re looking to see if there are twins in there. She proceeded with the ultrasound. The among the measurements taken were nuchal translucency and femur length, both showing distinct markers for DS. If we consider an ultrasound to be “testing” we would have to say that it was just done, not discussed or offered. The results were reported to me about 10 days later at which point an amnio was highly recommended. We never did any blood testing.

Trackbacks

  1. […] patient choice after pretest counseling.” In a previous post, I addressed the concerns of routinization of prenatal testing. It is good that ACOG has made plain that even though NIPT poses hardly any […]

Leave a Reply

%d bloggers like this: