Prenatal Control
A pregnant 37, enrolled in a pregnancy of 13 weeks is taken to the emergency room during the night. Her husband is on the way home from work, very upset, crying because the ultrasound was performed in birth control, told him he had a high risk of having a child with Down syndrome. The patient did not request that she received no special consideration during the scan and asked for his consent to be informed.
attending the clinic to have a new ultrasound machine, with a group of highly qualified doctors and continuous improvement in a referral center for maternal-fetal medicine college.
- Know you think is "risk of aneuploidy?
aneuploidy risk corresponds to a calculation based on ultrasound and biochemical variables to determine a probability of aneuploidy the patient to be tested.
- What are the markers of aneuploidy?
ultrasound findings are associated with the presence of aneuploidy, and in combination with the "risk of aneuploidy" to lessen the rate of false positives, in addition to a presumptive diagnosis of aneuploidies early without invasive methods. However, accurate diagnosis of aneuploidies is only possible through invasive methods.
- What risk does this patient? Do you know how to define the number of false positives in this situation? According
parameters analyzed at 13 weeks, this patient has a high risk that your child has an aneuploidy, however, when considering only aneuploidy markers evaluated the first trimester of pregnancy false positive rate reaches 5% .
- What medical, legal, ethical, experiential, do you think there are associated with the case presented?
case referred to various problems arise.
First is the question about the diagnosis of aneuploidy. In calculating the risk of aneuploidy can not make a definitive diagnosis, even when the risk is high, since it represents a chance and will need to use invasive methods, which carry a 1% risk of reproductive loss to confirm the diagnosis.
And when we certify the diagnosis of aneuploidy that arises the question about the course of further action, since abortion is illegal in our country, besides being ethically reprehensible.
the question also arises about whether fully justified risk to the fetus using invasive methods to confirm the diagnosis, which I think should be analyzed case by case, according to the treatment options and possible benefits that could determine in any particular case the definitive diagnosis of aneuploidy versus a high suspicion at birth.
is important to ask about the patient's emotional response on the news. For any pregnant woman, the expectations for your child are high, and during the antenatal attachment is formed an idealized image of the child, to be contrasted with the real child when finally know. Taking this into consideration is important to analyze the impact that a diagnosis of this type, or only suspected, may have on the patient and the damage it can cause in the relationship of the mother-baby, in addition to the emotional harm to the mother.
- What other tests can be derived from this clinical situation? What are the risks? What would you advise?
From known facts, it would be important to evaluate them in relation to the markers that could be seen on ultrasound in the second semester to have a lower chance of false positives. Having assessed these parameters and determined the risk of aneuploidy, could raise the option of using invasive methods such as amniocentesis or chorionic villus sampling, to have a diagnosis.
Having assessed the patient using all available noninvasive methods, would talk to her about the existence of invasive methods, explaining their risk and also explain that through non-invasive methods is only a "risk" and not a definite diagnosis. I think the patient with proper emotional support and, ideally, with his partner, who must decide on the use of an invasive method, knowing what the possible benefits justifying the use of them.
- Comment or investigate the following concepts:
- verbal iatrogenic
is for the damage done when they say you should not say, either ignorantly say something false, when it is appropriate to say, put it empathy necessary to speak in a language incomprehensible to the patient or say when there is no time to allow the patient understands what is said.
- right to be informed
patient has the right to receive information regarding their own person from the health personnel, in accordance with the principle autonomy.
- right not to know
A patient has the right to receive information regarding your medical condition, because that knowledge has emotional implications that the patient is entitled to avoid, in accordance with the principles of autonomy and personal health must respect this choice, preventing iatrogenic verbal, according to the principle of nonmaleficence.
Carlos Sáez Muñoz
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