Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

Worldwide, there are large inequalities in genetic service delivery. In 2011, we established a bi-annual joint pediatric-genetics clinic with a visiting clinical geneticist in the Dutch Caribbean. This retrospective study evaluates the yield of diagnostic testing and the clinical utility of a diagnosis for patients with rare diseases on these relatively isolated, resource-limited islands. A total of 331 patients that were referred to the clinical geneticist between November 2011 and November 2019 and had genetic testing were included in this study. A total of 508 genetic tests were performed on these patients. Microarray, next-generation sequencing gene panels, and single-gene analyses were the most frequently performed genetic tests. A molecularly confirmed diagnosis was established in 33% of patients (n = 108). Most diagnosed patients had single nucleotide variants or small insertions and/or deletions (48%) or copy number variants (34%). Molecular diagnostic yield was highest in patients referred for seizures and developmental delay/intellectual disability. The genetic diagnosis had an impact on clinical management in 52% of patients. Referrals to other health professionals and changes in therapy were the most frequently reported clinical consequences. In conclusion, despite limited financial resources, our genetics service resulted in a reasonably high molecular diagnostic yield. Even in this resource-limited setting, a genetic diagnosis had an impact on clinical management for the majority of patients. Our approach with a visiting clinical geneticist may be an example for others who are developing genetic services in similar settings.

Clinical and community genetics services in the Dutch Caribbean.

The Caribbean part of the Kingdom of the Netherlands consists of six islands: Aruba, Bonaire, Curaçao, St. Maarten, St. Eustatius, and Saba. Because of their small size and relative remoteness, they face several economic and healthcare challenges, including limited access to genetics services. In this article, we provide an overview of the clinical and community genetics services that are available in the Dutch Caribbean. In particular, we describe our joint pediatric-genetics clinic with a visiting clinical geneticist that was established in 2011 to provide clinical genetics services for the pediatric population of the Dutch Caribbean.

Urodynamic findings and functional or anatomical obstructions in children who developed bladder diverticula after reimplantation of the ureter.

OBJECTIVE: To study the clinical and urodynamic parameters of children who developed bladder diverticula (BD) after ureteral reimplantation. MATERIALS AND METHODS: We have reviewed records of 15 children who underwent ureteric reimplantation, possibly with diverticulectomy between January 1998 and October 2004, who postoperatively developed BD and compared the results with 25 patients, surgically treated for primary vesicoureteric reflux (VUR) without BD development after reimplantation. A total of 737 reimplantations was performed in 492 patients. Of the 15 patients and 25 controls we reviewed voiding history and free uroflowmetry, urodynamic parameters, findings on urethrocystoscopy, VCUG and signs of dysfunctional or anatomical obstruction. RESULTS: Of the fifteen patients with a postoperative diverticulum, one patient (7%) had an infravesical obstruction in combination with a normal voiding pattern, nine patients (60%) had severe dysfunctional voiding and two patients (13%) had both. Three patients had no infravesical obstruction nor dysfunctional voiding. Urodynamically the mean Pmax postoperatively was 96.8 (cm-H(2)O) in the obstructed patients (BD-group) (in controls 50.0 cm-H(2)O) and 95.6 (cm-H(2)O) for the dysfunctional voiders (in controls 61.8 cm-H(2)O). The difference between the Pmax values of BD-group and controls was significant on the 95% C.I. (P < 0.01). CONCLUSION: Dysfunctional voiding and infravesical obstruction in children appear to be important risk factors for acquired BD. Voiding pressures are significantly higher in patients that developed BD. Cognitive bladder training to normalize voiding pressures should be done before surgery if feasible. Special attention should be paid to the persistence of an infravesical obstruction.

Large neonatal thoracoabdominal aneurysm: case report and review of the literature.

We present a neonate with a large saccular aneurysm of the thoracoabdominal aorta, extending from the intrathoracic aorta to the left common iliac artery. No underlying cause could be identified. Despite an early diagnosis, the aneurysm was deemed inoperable because of the lengthy involvement and the frail aspect of all visceral arteries. A review of the literature on congenital abdominal aortic aneurysm in infants was conducted. Eleven cases of live-born infants with a congenital abdominal aortic aneurysm have previously been published. None of them involved as large a part of the thoracic and abdominal aorta as the case presented here.