Three‐dimensional ultrasonographic imaging of cleft lip: the winners are the parents

As ultrasound becomes more widely utilized in pregnancy and imaging technology improves, cleft lip will become more commonly identified in prenatal life. Following identification of a birth defect, communicating the potential implications of the diagnosis to the expectant couple is a critical issue. We report the case of a 29-year-old woman at 25 + 5 weeks' gestation in whose fetus, on routine ultrasound examination, a left-sided cleft lip was found. Detailed ultrasound examination of the fetus revealed no other anomalies. Chromosomal analysis was performed and revealed a normal 46,XY karyotype. In two ultrasound follow-up examinations performed at 35 and 37 weeks of gestation, the cleft lip was confirmed as being on the left side. Due to the uncertainty of the parents who found it impossible to understand the diagnosis from the two-dimensional (2D) ultrasound image (Figure 1), a three-dimensional (3D) examination (Kretztechnik V730; Kretztechnik, Zipf, Austria) was performed. Surprisingly, 3D surface rendering revealed a cleft lip on the right side (Figure 2). An explanation why the cleft was mistakenly considered to be one on the left side could be that the cleft was located near to the midline and the 2D ultrasound frontal view was an oblique frontal view (Figure 1). After rotating the planar images into standard anatomic positions, multiplanar review was used to evaluate the maxillary tooth-bearing alveolar ridge contour and anterior tooth socket alignment, which were normal in the present case. The final diagnosis was isolated cleft lip of the right side. Postoperative pictures of similar cases were presented to the parents to aid their understanding of postnatal surgical management. At 39 weeks' gestation a boy with Apgar scores of 9, 10 and 10 at 1, 5 and 10 min, respectively, was delivered by Cesarean section, which was performed for obstetric reasons. Right-sided cleft lip was confirmed postnatally (Figure 3). Two-dimensional ultrasound image (38 weeks' gestation) indicating a diagnosis of a cleft lip of the left side. Three-dimensional surface rendered image (38 weeks' gestation) revealing a cleft lip of the right side. The newborn on the second day after birth. On the day of discharge of the mother and baby from hospital, both parents declared that viewing the 3D image helped them to come to terms with the malformation. Together with an explanation of our findings and counseling by a plastic surgeon, 3D prenatal imaging facilitated their understanding of the defect and management options. Berge et al.1 reported in his series of 70 cases that none of the fetuses with isolated cleft lip had additional anomalies and all survived. The frequency of additional anomalies and the mortality rate in this selected population varied with the type of cleft. He reported that associated malformations were more frequently seen in cases with bilateral clefts (72%) than in those with unilateral clefts (48%). Recent reports2, 3 on the prenatal diagnosis of cleft lip resulting in pregnancy termination have raised questions about the appropriateness of such a decision. Family and health professionals often have to deal with ambiguity, uncertainty and complex decision-making during prenatal diagnosis. Embedded in parental and clinical decisions are values about children with birth defects. Families are making decisions about whether to bear or to abort an affected fetus on the basis of their perceptions of the impairment and on their expectations of the burden involved for the family and the child. The responsibility of clinicians is to help the couple reach their own decision based upon their personal religious, moral and cultural values. Included in this responsibility is the utilization of the whole technology of prenatal diagnosis to enhance parents' understanding of a malformation, even when it is as ‘minor’ as an isolated cleft lip. In addition to the provision of medical information, where recent studies have demonstrated that 3D ultrasonography is superior to 2D ultrasonography4-7 in the diagnosis of cleft lip and palate, 3D imaging also provides valuable visual information for the parents. All clinicians working in this field know the difficulty of explaining to parents with a 2D ultrasound image what a cleft lip is and what it looks like. Three-dimensional ultrasound images such as the one obtained in this case support the statements of Campbell8 and Carlson9, namely that the ability to visualize an abnormality such as cleft lip and palate will be of considerable help in counseling and helping parents come to terms with this abnormality. This is underlined in the paper of Lee et al.5 who state that parents appreciate and are able to better discern information in 3D than in 2D images.