The decision-making process of pregnant individuals offered termination of pregnancy for serious congenital abnormalities.

OBJECTIVES: This study aimed to explore the decision-making process of patients with pregnancies affected by serious congenital abnormalities. METHODS: The study design was an exploratory qualitative study. The sample for this study was pregnant individuals who had a prenatal diagnosis of a serious congenital abnormality and were offered termination of pregnancy. Semi-structured face-to-face interviews with closed and open-ended questions, recorded and transcribed verbatim, were used to collect the data; this was then analyzed using a thematic data analysis approach. RESULTS: Five topics were developed: "Health care services", "Home", "Being a mother", "Finding meaning", and "The aftermath". The first four topics describe the decision-making process where the participants filtered through multiple factors to reach their final decision. Although the participants consulted with their families, partners, and community, they made the final decision themselves. The final topics describes activities which were necessary for closure and coping. CONCLUSION: This study has provided valuable insight into the decision-making process, which can be used to improve services offered to patients. PRACTICE IMPLICATIONS: Information should be communicated clearly with follow-up appointments to discuss further. Healthcare professional should show empathy and assure the participants that their decision is supported.

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

BACKGROUND: Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily. These may play a role in the regulation of BBSome assembly. METHODS AND RESULTS: Using sequence analysis, the role of BBS6, 10 and 12 was assessed in the patient population comprising 93 cases from 74 families. Systemic and ocular phenotypes were defined. In the study, chaperonin-like BBS gene mutations accounted for the disease in approximately 36.5% of BBS families. A total of 38 different non-polymorphic exonic sequence variants were identified in 40.5% of BBS families (41.9% cases), of which 26 were novel (68%). Six cases had mutations present in more than one chaperonin-like BBS gene. One case with four mutations in BBS10 had a phenotype of overall greater severity. The phenotypes observed were beyond the classic BBS phenotype as they overlapped with characteristics of MKKS (congenital heart defect, vaginal atresia, hydrometrocolpos, cryptorchidism), as well as Alström syndrome (diabetes, hearing loss, liver abnormalities, endocrine anomalies, cardiomyopathy). CONCLUSIONS: While overlap between the MKKS and BBS phenotypes has previously been reported for cases with BBS6 mutations, we also observed MKKS phenotypes involving BBS10 and BBS12 and Alström-like phenotypes associated with mutations in BBS1, BBS2, BBS6, BBS7, BBS9, BBS10 and BBS12 for the first time.