Breaking the News: Parents’ Experiences of Receiving an Antenatal Diagnosis of Cleft Lip

© 2019, American Cleft Palate-Craniofacial Association. Objective: In high-income countries, many cases of cleft lip are now identified at the 18- to 21-week pregnancy scan. The manner in which a diagnosis is communicated is vital for long-term parental well-being, yet previous studies have been indicative of parental dissatisfaction. The aims of the present study were to examine the experiences of parents who received an antenatal diagnosis of cleft lip in their unborn child and to offer pragmatic suggestions for improving the diagnostic experience in practice. Design: An online, mixed-methods survey was designed and distributed by the Cleft Lip and Palate Association. Data from 574 eligible parents were analyzed using descriptive statistics and inductive content analysis. Results: Although survey responses indicated positive diagnostic experiences overall, respondents perceived a lack of sensitivity among sonographers, long waiting times between referrals, and a lack of appropriate and reliable information. Respondents also reported a number of misconceptions about cleft lip and/or palate and its prognosis, as well as a variety of initial concerns about their own ability to cope with the anticipated challenges. Conclusion: Findings emphasize the importance of providing accurate and individualized information to prospective parents, in a sensitive manner, so they can adjust to their child’s diagnosis and prepare for the birth appropriately. Given that antenatal screening for cleft lip is becoming more fully integrated into routine practice, more training for health-care professionals, improved access to reliable information in a variety of formats, and stronger links between local hospitals and specialist cleft services may be needed

Osteogenesis imperfecta

Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure. In the past decade, (mostly) recessive, dominant and X-linked defects in a wide variety of genes encoding proteins involved in type I collagen synthesis, processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells have been shown to cause osteogenesis imperfecta. The large number of causative genes has complicated the classic classification of the disease, and although a new genetic classification system is widely used, it is still debated. Phenotypic manifestations in many organs, in addition to bone, are reported, such as abnormalities in the cardiovascular and pulmonary systems, skin fragility, muscle weakness, hearing loss and dentinogenesis imperfecta. Management involves surgical and medical treatment of skeletal abnormalities, and treatment of other complications. More innovative approaches based on gene and cell therapy, and signalling pathway alterations, are under investigation