Counseling for fetal anomalies

Contemporary OB/GYN® Archive

October 1998

When a fetal anomaly is either identified during a routine ultrasound examination or

confirmed by a targeted one, the way the "bad news" is delivered and explained to the couple
is crucial. The loss of the dreamed of perfect child-to-be can be emotionally devastating.
High-risk pregnancies can be complicated by perinatal loss through miscarriage,
intrauterine fetal demise, stillbirth, neonatal death, or elective termination of an
anomalous fetus. This loss typically has substantial impact on the parents; the
effects often extend to their relationship and to the nuclear family. The loss of the
anticipated and dreamed of child-to-be is emotionally devastating. Our job is to
provide the most accurate information, as well as appropriate emotional support.

Diagnosis
Ultrasound (US) diagnosis of congenital anomalies is now feasible for many
conditions. Defects identified may be isolated or part of a syndrome (chromosomal,
Mendelian, or sporadic), sequence, association, or field defect. When an abnormality
is found on US, a thorough and systematic anatomic survey is indicated to rule out
whether other abnormalities are present in the fetus.
When an abnormality is first identified, the patient should be told directly. You may
say, "I think there may be a problem. I need to do a detailed examination and to
concentrate. I may bring into the room another colleague for a second opinion.
Please allow me the time. I will then share the information about the findings and
discuss everything in detail with you."
If a vaginal US examination could provide better visualization, let the woman know.
Explain the technique, show her the probe, and give her a few moments to feel
comfortable with what will happen next. Be sensitive to her reaction; if she declines
the examination, try to explain the benefits without coercion.

Management
When a fetal anomaly is either identified during a routine US examination or
confirmed by a targeted one, the mode of delivering the "bad news" and explaining
the information to the parents is of crucial importance. The guidelines in Table 1 can
be helpful.

Follow-up
The direction of follow up will vary, depending on whether the woman decides to
continue or terminate the pregnancy.
Continued pregnancy. If a patient chooses to continue the pregnancy, follow up
and coordinated appointments, including specialty referrals, as indicated, should be
appropriately scheduled. Minimizing the number of visits to the center should be
considered:

• Explain to the patient information obtained during subsequent examinations. Re-evaluation is a

dynamic process; involve her in decision-making at each step.
• When fetal therapy or surgery can be considered, explain thoroughly and realistically.
• Discuss delivery plans with the referring physician. If the gravida is to be delivered at the tertiary
center, a neonatal consult may be indicated. If delivery is elsewhere, the patient's obstetrician
should be encouraged to seek pediatric involvement in plans for perinatal and neonatal care.
• Genetic counselors or perinatal nurse can be instrumental in coordinating care and follow up.
Patients usually perceive them as their "advocate" and liaison to the complex multidisciplinary
system.

Terminated pregnancy. Whenever patients choose to interrupt the pregnancy,

explain and offer the different termination methods. When a woman desires a
certain method that is unavailable at your institution, offer referral to an outside
service.

• When diagnosis of an anomaly is made in the late second or third trimester, the option for
termination may still be available. A few centers across the country provide late terminations for
fetal indications. In this situation, the genetic counselor or prenatal nurse is just as an important
part of the team, as in the case of a continued pregnancy.

After the loss

After a woman experiences the loss of a pregnancy complicated by fetal anomalies
(be it termination, delivery of a stillborn, or death of the affected neonate), offer her
the option of having the "baby" undergo a pathologic examination and encourage
her to consent to one. The exam might include the elements listed in Table 2.
Be sure to offer a follow-up appointment with the genetic counselor or a clinical
genetic service. This gives the patient the chance to review the findings, obtain a
final diagnosis, if possible, learn about the risks of recurrence, and explore future
reproductive options.
You should send the bereaved patient a letter summarizing the discussion and
recommendations. Enclosures might include a copy of the autopsy report,
karyotype, and photographs of the "baby," if the woman so requests. Also forward a
copy of the letter to the referring physician unless the patient declines permission to
do so (occasionally a woman will, especially when considering changing her
obstetrician).

Complications
Much of what you say after delivering the initial shock of the bad news may be lost
on the patient. Information disseminated may not be accurately understood or
retained. Patients often exhibit disbelief, deferral, or dismissal. Allow time, therefore,
and repeat information, supplementing it with diagrams, written material, or
pictures.
Unspoken grief, coping. Listen to the patient's spoken and unspoken words. Look
for clues that can assist in deciphering what the patient needs at this time-and later.
You should also:

• Offer the option for future contact. Be available either by phone or in person for follow-up
conversations.
• Know when to refer: Anxiety and depression may result from the loss of a desired pregnancy.
Referral to a therapist may be needed at times, in order to resolve psychosocial issues related to
coping in this time of crisis, anger, and adjustment.

Help in overcoming guilt. Address issues of guilt. Reassure the patient that she
did nothing that could have caused this problem, and that she could not have done
anything to prevent it from happening. Ask if anything occurred in the pregnancy
that concerns her. When exposure to a teratogen has been suspected, or a known
maternal condition was uncontrolled (for example, a noncompliant diabetic, or
epileptic), the patient may have immense guilt feelings that she may not
acknowledge. Being understanding and sensitive is far more effective than
belaboring the obvious. The harm is already done; supportive follow up and
constructive planning will enhance the overall outcome.

TABLE 1: Guidelines for delivering the "bad news"

• Do not counsel the patient while she is still on the examination table, feeling vulnerable. Allow her
to get dressed, and move to a private consultation room or office.
• Involve a genetic counselor; if one is unavailable, seek a perinatal nurse or social worker. These
team members provide invaluable support, may help explain the medical terms, and can arrange
follow up.
• Repeat the information regarding diagnosis and prognosis in clear, simple language. Avoid the use
of medical jargon, acronyms, abbreviations, and technical terms. Draw simple diagrams when
possible.
• Do not inadvertently reveal the fetal sex, unless this is important to the diagnosis.
• Do not use adjectives that place a value judgment on the abnormality being described. What might
be "minor," "simple," "benign," or vice versa to you might not be so to the patient.
• Offer further testing, as indicated (for example, cytogenetic analysis and fetal echocardiography).
Discuss the various invasive procedures (amniocentesis, chorionic villus sampling, fetal blood
sampling), including techniques, accuracy, limitations, benefits, and risks.
• Leave the woman or couple alone for a few minutes to cry and gather their thoughts.
• Do not pressure the woman to make a decision quickly regarding pregnancy management. Time is
needed to get over the shock, assimilate the information, evaluate the prognosis, and review the
available options. When and if the patient chooses a procedure, be accommodating and flexible.
This allows her to feel she has some control over her situation.
• Acknowledge and validate the patient's or couple's feelings.
• Be sensitive to ethnic, cultural, societal, and individual moral-philosophic and personal beliefs that
influence the way each patient reacts and responds to the information.
• Options should be presented in a nondirective, nonjudgmental fashion. Ultimate decisions are
made by the patient/couple, family, or other support person.
• Be supportive of their choices regardless of whether you agree.
• Offer the woman the option of specialty referral (for example, neurosurgery, pediatric
nephrology/urology).
 • Call the referring physician as soon as possible. This allows him or her to answer further questions
the patient may have later on. Follow up with a letter that documents the findings and summarizes
the counseling and recommendations made.
• Try to contact the patient after 48 to 72 hours; ask how she is doing or whether she has questions
or concerns. Many support groups are available in the community: offer the option for contact. If
you know of another woman who faced a similar situation, and who would be willing to be a
contact person, let the patient know that she can reach out to her, as well.

TABLE 2: Elements of the pathologic exam after pregnancy loss

1. Photographs of the "baby," to be kept in the medical record

2. Radiographic examination
3. Gross examination by a dysmorphologist or a medical geneticist
4. A fetal karyotype, if not obtained during the pregnancy; in some cases, tissue for
DNA-based special studies may be needed
5. An autopsy by a qualified pathologist (do provide the pathologist with clinical and
US information to expedite and optimize the examination)