Prenetal Detection of Oral Clefts : Diagnostic, Genetic and Ethical Aspects

Abstract

Since the introduction of routine prenatal screening with ultrasound in the Netherlands in 2007, parents are confronted with the diagnosis of oral cleft (OC) already during pregnancy. This imposed a new dimension in cleft care in the Netherlands. As a consequence to increasing prenatal detection rates, the cleft lip and palate team of the Wilhelmina Children’s Hospital in Utrecht set up a multidisciplinary prenatal cleft clinic in which a plastic surgeon, an obstetrician, medical psychologist and clinical geneticist together facilitate in counseling. Although the diagnosis of OC prenatally and related counseling results in better education and preparation before birth, it also poses a significant ethical dilemma. Even though cleft lip and palate teams in the Netherlands can provide excellent care, there is concern that fewer children with OC will be born due to termination of pregnancy (TOP) in the near future as a result of prenatal screening. His is the case in Israel, were most parents terminate pregnancy in case of OC. The latter inspired us for the start of this thesis.

In order to improve counseling we needed accurate information. In the first part of this thesis we assessed the different types of OC that can be detected by screening. Furthermore we evaluated the accuracy of detection of OC in the Netherlands, which demonstrated a much higher accuracy of detection of OC by current US techniques in comparison to former studies. However, isolated cleft palate was rarely diagnosed and in those cases where a cleft lip was suspected, the incidence of an additional cleft palate was often underestimated (i.e. false negative). Somehow, the detection of a cleft palate remains difficult. The association with other anomalies and the role of invasive genetic tests was investigated. Furthermore different types of cleft are variably related to specific risks of associated anomalies. We discovered that the presence of other congenital anomalies on US, in combination with OC is a strong predictor for chromosomal defects. Therefore, we proposed that additional genetic counseling should be offered to those women in whom associated anomalies are observed, irrespective of cleft category. The second part of the thesis faces the prenatal counseling process of OC itself. We evaluated the opinion and attitude of both professionals and prospective parents on OC, the expected burden of OC and their opinion about TOP. We found that most future parents in the Netherlands believe that an isolated OC is a cosmetic disability or “just a little different”. Thus most parents do not even consider TOP. In another study we found that the opinion about OC of the professional also did not explain the dramatic difference in TOP between Israel and the Netherlands; they did not differ significantly in their judgment on the severity of OC and the acceptability of TOP. Finally in the last part, we discussed the ethical background of counseling and argued which type of counseling is most appropriate in case of OC. It was concluded that a more directive approach of counseling is appropriate and contributes to prospective parents becoming autonomous.