CLINICAL CASE No. 2
A pregnant woman aged 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 he have no special consideration during the scan and asked for his consent to be relayed.
attending the clinic to have a new ultrasound machine, with a group of highly qualified doctors and constantly improvement in a reference center university maternal-fetal medicine.
QUESTION No. 1
Do you know that is "risk of aneuploidy?
If first say that aneuploidy is a change in the number of chromosomes of an individual. For example:
Trisomy 21-Down Syndrome Trisomy 18-
Edwards Syndrome Trisomy 13-
Patau Syndrome
And the risk of aneuploidy is the probability that a woman (or couple) to have a child some alteration in the number of chromosomes.
What are the markers of aneuploidy?
markers of aneuploidy, as its name implies, are instruments through which we can define the risk of aneuploidy and classically have been divided into two: biochemical markers and ultrasound.
biochemical markers: alpha-fetoprotein (decreased in trisomy 21), estriol, B-HCG (increased in trisomy 21) and PAPP-A (pregnancy-associated protein).
ultrasonographic markers, which are determined by "normal variants" that are frequent in children with aneuploidy. Among them we can name the nuchal translucency, ductus venosus, nasal bone, short femur, mild hydronephrosis, echogenic bowel, among other cardiac malformation.
What risks does this patient? Do you know how to define the number of false positives in this situation?
real risk of this patient to have a child with aneuploidy is called Risk Adjusted and corresponds to the baseline risk (age + background) along with the risk of the markers (biochemical and USG).
- Baseline risk: If we consider the patient's age (37 years) and gestational age of pregnancy (13 weeks) could say as Snijder table that has a probability of 1 in 152 of having a child with aneuploidy. On the background we have more data to know whether this patient had a previous child with Down syndrome or other chromosomal abnormality.
- by markers Risk: There have been no biochemical markers, ultrasound only, which do not know what or how many abnormalities were detected by the sonographer. But for example if the translucency was abnormal, with a value of 4 mm, the chance for aneuploidy is 21%, However if the value is 7 mm, the probability is 64%.
therefore not possible to predict the risk of this patient with the background information provided in the clinical case.
False positives: in nuchal translucency is 5%, while the nasal bone hypoplasia is 1.8%. However, the patient should know that the mere presence of ultrasonographic markers not sure that the fetus and unborn child has Down Syndrome, since it is known that the percentage of healthy children had increased nuchal translucency is high, eg
between 3.5 to 4.4 mm - 86% of healthy children Between 4.5 to 5.4 mm
- 77% of healthy children between 5.5 to 6.4 mm
- 67% of healthy children
Mayor of 6.5 mm - 31% of healthy children
QUESTION No. 2
What medical, legal, ethical, experiential, do you think there are associated with the case presented?
- Medical problems: First, it presents the medical problem, unknown to readers of this case in which there is no indication the cause of admissions to the emergency of the mother that night, this may or may not be connected with the news received in the office during control prenatal. However, we believe that this story could actually have altered the psychological environment of the woman, causing great stress, which is shown to be a major risk factor in ascending bacterial infection, which is a risk factor in turn abortion and premature delivery, which may be the reason for the visit to the emergency. This hypothesis needs time to develop, but in the case report does not specify the time between the control in the office and consultation with the urgency of this woman, so our idea may be valid.
- Legal issues: If a result of medical problems that occurred in this woman and that motivated to go to emergency, the fetus is damaged or dies, we believe that the couple could even bring a lawsuit against the consultant medical staff to alter their psychological state and as a result have caused an abortion in a pregnancy that was studying at that time so normal.
- Ethical issues: two main problems occur in this situation. The first is that it does this "measuring or testing" the fetus during the ultrasound without the knowledge or consent of the mother, which disregard the principle of autonomy and second place is given to know this high risk your child has Down syndrome when she did not authorize to be informed and that he knew that he was making this measurement. It follows read in a case that the mother did not receive information in a good way, this may be because it was not explained clearly enough risk means nor what were the chances that this diagnosis is not accurate , leaving a great anxiety and distress in the mother.
- existential problems: There are clearly problems in daily life brings the unexpected information received by the wife, since we can assume the sadness, anger and anxiety that left her knowing this elevated risk for Down syndrome your child.
QUESTION No. 3
Discuss the case with your teacher. Has this ever happened? What did the patient and what did he (council) for his patient?
Al This case discuss with our teacher tells us that in his experience most mothers with a pregnancy at high risk of aneuploidy unrepentant to know the risk, but nevertheless involves a big emotional and anguish for what needs to be very assertive to handle this type of information adequately explaining to the mother and father what the results mean, it's just a probability, but nonetheless if they want there are other diagnostic methods to confirm a certain condition, but most couples choose not to have them, and continue as normal pregnancy.
QUESTION No. 4
What other tests can be derived from this situation clinic? What are the risks? What would you advise?
In this clinical situation can be derived as well as tests to establish more accurate the risk of aneuploidy or confirmatory testing of these pathologies. Among the former are the biochemical markers and ultrasonographic mentioned in question number 1 and confirmatory tests in the genetic study we are using the following techniques:
- chorionic villus sampling (CVS)
- Amniocentesis
- Cordocentesis
The which are unsafe and are therefore reserved risk groups only. Among the complications of these techniques include: loss of amniotic fluid, infection, bleeding and fetal loss, which reaches 1% at cordocentesis.
Therefore as a clinical case the patient is at high risk of aneuploidy by the medical team would be a candidate for office these confirmatory tests, however we advise you to be held only if she would like some evidence first place a non-invasive as obtaining biochemical markers (B-HCG, PAPP-A, estriol and A-FP) and a second step these other invasive tests performed. Obviously, before explaining the utility, advantages and complications of these techniques, and that knowing the diagnosis of Down syndrome in a prenatal stage, no further change in therapeutic behavior, unless the fetus is a complication that is necessary timely repair and esophageal atresia, whereupon the medical team must be prepared.
QUESTION No. 5
Comment or investigate the following concepts:
iatrogenic verbal The verbal iatrogenic happens when you say you should not say
1. When false as a result of ignorance, ignorance not knowing, not being aware of what is not known.
2. When it is not appropriate.
3. In the absence of the necessary empathy.
4. When you do not know how to use a metaphorical language understandable to the patient.
5. When there is sufficient time for communication doctor / patient may develop and ensure understanding by the patient.
right to be informed is the right that everyone a person to has to know, in cu lquier to moment, what is h to d ce with a person to cough them. In the area of medicine is that the patient has a right to know their diagnosis, what it is and evolution, if not treated. If you choose to be treated, you must know what are the treatment options and side effects they might cause.
right not to know: is restricting the patient to know their diagnosis, evolution and / or prognosis as long as it has expressed previously. Occurs in exceptional situations such as: patients with terminal cancer.
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