October 1, 2013 Features

Expecting the Unexpected

When prenatal testing shows an oral cleft, parents-to-be need information about their child’s condition—and they also need compassion, reassurance and support.

The expectant parents had just learned that their baby has a cleft lip and palate. They contacted me to set up a time to meet and address their questions about what to expect. My mind went back nearly 20 years, to the first time I received a prenatal speech consult—one with parents expecting a child with a cleft lip. I had peppered the referring pediatrician with questions:

Expecting the UnexpectedWhat kind of cleft?
All we know is cleft lip.
What do we know about the baby's palate?
Nothing.
Any other health issues?
They are doing more testing.
What should I tell them?
Tell them what you tell the parents of newborns.

Those answers did not relieve my uncertainty, because I knew that the prenatal population is quite different from the newborn population. Oral clefts occur in one in every 600 live births, but the rate of oral and facial clefts is much higher in the prenatal population. Clefts often occur in association with complex syndromes, many of which are not compatible with survival to term. So my experience with counseling parents of newborns was not necessarily applicable to this expectant family.

As a member of the cleft palate team, I often meet with parents of newborns with clefts. Before these meetings, the infant typically has been evaluated comprehensively by a pediatrician and often a geneticist. These evaluation results allow me to tailor my counseling with the family, taking into account the infant's overall health, diagnosis and prognosis. However, prenatal counseling is much trickier because I lack some of this information. Now, as I face these parents-to-be of an infant with a cleft lip, I know I need to strike a balance of being reassuring and also realistic. The uncertainties weigh heavily.

Prenatal diagnosis of oral clefts

Orofacial clefts and other craniofacial conditions have been detectable by ultrasound since the early 1980s, and detection rates have climbed as image resolution has improved. Today, routine ultrasound in low-risk pregnancies identifies 20 to 40 percent of fetuses who are ultimately born with cleft lip. The rates of identification are lower for isolated cleft palate, typically less than 20 percent, according to a 2010 systematic review in Ultrasound in Obstetrics and Gynecology by Wies Maarse and colleagues and a 2010 study by Kathleen Russell and colleagues in Cleft Palate-Craniofacial Journal (see below for article sources). High-resolution, three-dimensional ultrasound conducted in high-risk pregnancies yield better rates of detection for cleft lip, with similar lower detection rates for cleft palate.

When ultrasound detects an oral cleft or other craniofacial anomaly, physicians generally recommend further genetic, cardiac and imaging tests. Typically the family meets with members of the cleft palate team before the baby is delivered. Martha Matthews' 2001 study in Cleft Palate-Craniofacial Journal, for example, found that among surgeons involved in cleft care, 92 percent report that they routinely meet with families expecting an infant with a cleft. The frequency with which speech-language pathologists or audiologists participate in prenatal counseling is unknown.

Counseling issues

Prenatal testing alerts the family and the medical care team when an atypical structure or function is identified. Routine ultrasound has been criticized because it tends to be presented as a "check that everything is OK" with the option to determine gender. As a result, prospective parents are often ill-prepared when an abnormality is identified. Properly conducted informed consent should include detailed discussion and consideration of the implications of abnormal findings before the testing is conducted. Too often, the process of informed decision-making is bypassed by having parents sign a form that lacks the depth of discussion required to achieve truly informed consent.

Prenatal testing is sometimes described as preventive—but it's important to recognize that testing does not prevent the condition from being present. An underlying aspect of prenatal testing relates to deciding whether to continue the pregnancy. The timing and purpose of the testing are important to the informed consent process and throughout subsequent counseling.

The rate of elective termination of pregnancy when a cleft lip is diagnosed varies. The Cleft Palate-Craniofacial Journal's "Issues and Controversies" published a discussion contrasting the outcomes of prenatal diagnosis of cleft lip in Haifa, Israel, with centers in San Diego. In Israel, diagnosis occurred early (gestational week 14–16) and the center reported a 96 percent termination rate. In California, detection occurred later in pregnancy with a 25 percent termination rate.

This wide variation is associated with gestation dates at time of diagnosis; degree and severity of associated anomalies; and personal, religious, cultural, political and moral beliefs. The counselor's approach and the information the counselor presents are also factors that may have considerable influence on termination rates. According to the National Society of Genetic Counselors Code of Ethics, however, genetic counselors and others involved in prenatal counseling are required to set aside their personal beliefs and values, uphold respect for their client's autonomy, and provide accurate and complete information.

Fortunately, false positives—the identification of a cleft when no cleft is present—occur very rarely for oral clefts. However, false negative rates on routine ultrasound reflect a very high "miss" rate for oral clefts. The low identification rate for oral clefts on routine ultrasound may lead to a false sense that the baby has no health concerns, thus yielding a bigger shock at the time of delivery.

Parents who experience prenatal diagnosis of an oral cleft condition report satisfaction with the experience, despite an initial shock that adds stress and uncertainty to the pregnancy. When expectant parents know before birth that their baby will have an oral cleft, they can consult with specialists, prepare for feeding needs, connect with other families, determine insurance coverage and, perhaps, alter the delivery plan or location. The health care team is also better prepared at the time of delivery.

A growing issue

A goal of prenatal testing is to identify any anomalies and to give families information about the condition before the baby is born. This goal is met when professionals—such as speech-language pathologists and audiologists—address families' questions before the birth.

Today, some infants with chromosomal anomalies such as trisomy 21 (Down syndrome) or structural anomalies (such as spina bifida or cleft lip) are routinely identified before birth. As prenatal testing becomes more comprehensive, it likely will broaden to include smaller deletions or duplications of chromosome segments. The potential issues associated with fetal genome scans are already being discussed in the literature. Our current uncertainty about clinical prognosis will be magnified as we're increasingly able to identify genetic conditions with even broader variability in expression. We already have the capacity to identify genes associated with congenital hearing disorders, 22q deletion syndrome (velocardiofacial syndrome), Williams syndrome and more. Over the next few years and decades, the role of all health professionals in prenatal counseling will expand.

The opportunity to talk with expectant parents, though daunting, is a privilege that requires optimal counseling skills (see Cleft Counseling Considerations). Striking a balance between reassurance and realistic information is a considerable challenge. Being a good counselor includes awareness of your own biases—whether positive or negative. As Cassandra Aspinall points out in her article "Dealing With the Prenatal Diagnosis of Clefting: A Parent's Perspective" in the March 2002 issue of the Cleft-Palate Craniofacial Journal, clinicians should avoid "flippant comments such as 'If I had to choose a birth defect for my child to be born with, this would be the one.'" Listen carefully to what prospective parents ask. They may seek information, resources, reassurance or all of these. Parents may be overwhelmed and need several meetings, or may just need to know who they can contact with questions later.

After 20 years, the uncertainties surrounding a prenatal diagnosis of cleft lip and/or palate still exist, but are tempered through more detailed ultrasound images, and refined genetic and physiologic evaluations. Families also have access to a vast array of information on the Internet—the volume is overwhelming and the information may be scary, so families benefit far more from in-person counseling with a knowledgeable and caring professional who can answer their specific questions. The prenatal period is one of great excitement and uncertainty. Being able to serve parents and address their immediate need for support and information is an honor.

When I met with the expectant family who contacted me recently, they had done their research and had a lot of questions. They knew a great deal about feeding, surgeries and their insurance coverage. They were aware of the professions who would be involved in caring for their child—surgery, orthodontics, speech-language pathology, audiology, pediatrics and others. As they talked, I discovered that they thought they would be responsible for finding each of these professionals to form their own care team. As I described the Oral Cleft Clinic, a place where all these disciplines come together to provide coordinated care for child and family, their relief was palpable. Their baby is due very soon, and we have already scheduled an appointment with the Oral Cleft Clinic. I can't wait to meet their newest addition!

Helen Sharp, PhD, CCC-SLP, is associate professor in the Department of Speech Pathology and Audiology at Western Michigan University, a member of the WMU School of Medicine Oral Cleft Clinic, and visiting associate professor in the Department of Preventive and Community Dentistry at the University of Iowa. She conducts outcomes research focused on patient and parent preferences and is president-elect of the American Cleft Palate-Craniofacial Association. helen.sharp@wmich.edu

cite as: Sharp, H. (2013, October 01). Expecting the Unexpected. The ASHA Leader.

Cleft Counseling Considerations

  • Review the National Society of Genetic Counselors Code of Ethics, particularly the section "Genetic Counselors and Their Clients", which succinctly describes the requirement for counselors to uphold respect for clients' beliefs and values, provide information, and support informed and uncoerced decision-making.
  • Listen carefully to the family's questions.
  • Avoid overwhelming the family with technical jargon and too much information.
  • Focus the discussion on the family's questions and what to expect in the first few weeks and months of the baby's life.
  • Assure the family that assistance will be available.
  • Provide your contact information or that of other qualified professionals who can address the family's questions and concerns throughout the pregnancy and after the baby is delivered.
  • Provide quality resources, whether online or printed.
  • Avoid general platitudes—"It will all be OK...you'll see."
  • If the fetus is known to have a cleft, describe interdisciplinary team care and encourage the family to visit the Cleft Palate Foundation website to identify an accredited team in their area.


Sources

Aspinall, C. L. (2002). Dealing with the prenatal diagnosis of clefting: A parent's perspective. Cleft Palate-Craniofacial Joural, 39(2), 183–187.

Blumenfeld, Z., Blumenfeld, I., & Bronshtein, M. (1999). The early prenatal diagnosis of cleft lip and the decision-making process. Cleft Palate-Craniofacial Journal, 36(2),105–107.

Donley, G., Chandros Hull, S., & Berkman B. E. (2012). Prenatal whole genome sequencing: Just because we can, should we? Hastings Center Report, July-August 2012, 28–40.

Jones, M. C. (1999). Prenatal diagnosis of cleft lip and palate: Experiences in Southern California. Cleft Palate-Craniofacial Journal, 26(2), 107–109.

Jones, M. C. (2002). Prenatal diagnosis of cleft lip and palate: Detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling. Cleft Palate-Craniofacial Journal, 39(2), 169–173.

Maarse, W., Berge, S. J., Pistorius, L., Van Barneveld, T., Kon, M., Breugem, C., & Mink Van Der Molen, A. B. (2010). Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: A systematic review. Ultrasound in Obstetrics and Gynecology, 35, 495–502.

Matthews, M. S. (2002). Beyond easy answers: The plastic surgeon and prenatal diagnosis. Cleft Palate-Craniofacial Journal, 39(2), 179–182.

National Society of Genetic Counselors. (2006). Code of Ethics. Accessed on July 31, 2013.

Nusbaum, R., Grubs,, R. E., Losee, J. E., Weidman, C., Ford, M. D., & Marazita, M. L. (2008). A qualitative description of receiving a diagnosis of clefting in the prenatal or postnatal period. Journal of Genetic Counseling, 17(4), 336–350.

Spence, D. (2013). Bad medicine: Antenatal screening. British Medical Journal, 346, f1226.

Russell, K. A., Allen, V. M., MacDonald, M. E., Smith, K., & Dodds, L. (2008). A population-based evaluation of antenatal diagnosis of orofacial cleft. Cleft Palate-Craniofacial Journal, 45(2), 148–153.



  

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