Reply

Abstract

We thank Dr Hofman for commenting on our article on prenatal ultrasound detection of facial clefts1. Dr Hofman claims we are making a descriptive error by reporting an overall detection rate of cleft lip and palate of 45% given the fact that the rate of associated anomalies amongst the detected cases was approximately 20%. Dr Hofman refers to this calculated 20% detection as ‘a relevant detection rate’. We disagree with this statement. Most parents of children with isolated cleft lip and palate would disagree, too. In fact, it was the parental interest group for children with cleft lip and palate who first made contact with us during the late 1980s to focus on the importance of making these diagnoses antenatally. Such parents are provided with detailed counseling to be prepared for the rather extensive surgical therapy the child has to go through from around 3 months of age and subsequently, depending on the extent of the anomaly. Due to the recurrence risk, parents with an affected child are also particularly interested in prenatal ultrasound in future pregnancies in order to be informed of the presence or absence of the indicated diagnosis as early as possible. Due to the high rate of serious associated conditions, including chromosomal aberrations, syndromes and sequences, found amongst cases with cleft lip and palate anomalies, the detection of such cases is important. We have reported an increase in the detection rate of cleft lip and palate from 34% to 58% and have reasons to believe this detection rate will increase. In contrast to Dr Hofman's belief, we consider ultrasound to be a good method for detecting fetal anomalies. The detection rate of different anomalies varies extensively depending on the organ system in question. Series have shown increasing detection rates over time as the field of fetal medicine, including the quality of equipment, advances2, 3. Most likely, the detection rate of anomalies in general will continue to increase. We also disagree with the claimed ‘second error’—the naturalistic fallacy. As stated above, cleft lip and palate is associated with an overall risk of additional anomalies of around 50%. This risk included an overall risk of chromosomal aberrations of 12% in our population. The claim that ‘screening needs specific justification’ and the possibility that ‘Detecting less severe, and operable, defects such as facial clefts, may lead to parental decisions for abortions’ certainly are important issues of medical ethics. This fundamental ethical discussion was considered beyond the scope of the descriptive presentation in our article. However, ethical issues will remain an important part of the development of fetal medicine. K. Offerdal*, S. H. Eik-Nes*, * National Center for Fetal Medicine, Women and Children's Center, St Olavs University Hospital and Institute of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, 7006 Trondheim, Norway