what-when-how
In Depth Tutorials and Information
CASE 1
A routine ultrasound at 21 weeks of gestation showed
evidence that Maria carried a fetus with multiple congen-
ital fractures, resulting in a diagnosis of OI type II. At 30
weeks, the obstetrician strongly recommended a vaginal
delivery to the pregnant woman because the physician
felt that the infant would not survive more than a few
hours or days. As an alternative mode of delivery, one
of the staff suggested a cesarean section, but the primary
obstetrician did not recommend this because she did not
want to jeopardize the future reproductive health of the
pregnant woman. At 34 weeks the case came before the
ethics committee for further analysis because the preg-
nant woman requested a cesarean delivery, arguing for
the potential benefit to her infant.
9
resulting in varying levels of osteoporosis, brittle bones,
blue sclera, deafness and the frequent early death from
respiratory complications. As in
Case 1
, ultrasound and
computed tomography may be the initial indicator of OI
in a previable fetus.
10,11
A prenatal diagnosis then sets
into motion more extensive testing to clarify diagnosis
and possible prognosis.
12
Advances in prenatal screen-
ing and testing have resulted in an increase in the num-
ber of pregnant woman and families receiving severe or
lethal perinatal diagnoses like OI. Although the age of
personalized medicine promises improved understand-
ing of the molecular bases of OI and more targeted ther-
apeutic approaches, as yet there are no genetic markers
that will prospectively identify the severity of OI prena-
tally or predict success of treatment after birth.
TABLE 41.1
Divergent Phenotypes in a Representative family
from a genetics Clinic
Family Member
Mother
Daughter
Nephew
DNA analysis
Type IV
Type III/IV
Type III
Phenotype
Normal
ambulation
Ambulatory
w/fractures
Wheelchair
done to treat or correct substantial structural anomalies
is extremely difficult for clinicians as well as pregnant
patients. A valuable ethical perspective to guide the
actions of clinicians in situations such as these is
virtue
ethics. Virtues as applied to health care describe “morally
excellent character traits” that provide the foundation for
ethical action.
5
For example, professional virtues in
Case
1
could lead the clinician to deliver the information in
a way that is wise, truthful, competent, understanding
and compassionate. This means that the clinician recog-
nizes his or her ethical obligation to convey the disturb-
ing news in a manner that minimizes anxiety for the
pregnant woman and family and acts accordingly. There
is evidence that clinicians who paired information with
wisdom regarding the emotional and physical needs of
the patient were better able to assist pregnant women
and families in considering the various options available
following a diagnosis of a severe anomaly.
13
In the same
study, relaying information in the absence of professional
virtues listed above resulted in a higher degree of dis-
tress for patients and a disagreeable interaction.
A prenatal diagnosis of type II OI presents a preg-
nant woman with heart-rending outcomes for her fetus
that can include a decision to terminate the pregnancy,
potential spontaneous
in utero
fetal death, neonatal
death or survival of an impaired infant. Inasmuch as
these potential outcomes may reflect possible choices
for the pregnant woman, this situation is commonly
thought to raise the ethical issue of respect for auton-
omy.
14
Autonomy is one of the four principles that func-
tions as a guideline for health care ethics, and it entails
respect for the choices of self-governing decision-makers
unencumbered by outside influences.3
3
Yet, a preg-
nant woman presents a clear challenge to autonomy.
Uncertainty of Prenatal Diagnosis
Inability to predict the severity of the clinical pic-
ture of OI prenatally is a recurring ethical issue, espe-
cially because some infants diagnosed prenatally with
the most severe forms of OI turn out to be more mildly
affected and survive. Advances in DNA analysis have
not yet eliminated diagnostic uncertainty. For exam-
ple, prenatal DNA testing may reveal a mosaic type
II-III genotype that can result in a phenotype ranging
from an infant who dies shortly after birth to a surviv-
ing teenager. Moreover, even given the same mutation,
the spectrum in phenotype among family members can
vary from more moderate to more severe.
Table 41.1
illustrates the divergent phenotypes in a representative
family from a genetics clinic.
Even with biochemical testing and X-rays after birth,
it is often difficult to predict the phenotype of an indi-
vidual infant or the infant's clinical course. In fact,
respiratory function is usually more relevant than DNA
testing or imaging studies.
Difficult Decisions about Pregnancy and
Delivery
Sharing information regarding a potentially lethal
in utero
diagnosis for which there is little that can be
