Objective: Non-invasive prenatal testing (NIPT) for fetal aneuploidies has been widely adopted in developed countries. Despite the sharp decrease in the cost of massively parallel sequencing, the technical know-how and skilled personnel are still one of the major limiting factors for applying this technology to NIPT in low-income settings. Here, we present the establishment and validation of our NIPT procedure called triSure for detection of fetal aneuploidies. Methods: We established the triSure algorithm based on the difference in proportion of fetal and maternal fragments from the target chromosome to all chromosomes. Our algorithm was validated using a published data set and an in-house data set obtained from high-risk pregnant women in Vietnam who have undergone amniotic testing. Several other aneuploidy calling methods were also applied to the same data set to benchmark triSure performance. Results: The triSure algorithm showed similar accuracy to size-based method when comparing them using published data set. Using our in-house data set from 130 consecutive samples, we showed that triSure correctly identified the most samples (overall sensitivity and specificity of 0.983 and 0.986, respectively) compared to other methods tested including count-based, sized-based, RAPIDR and NIPTeR. Conclusion: We have demonstrated that our triSure NIPT procedure can be applied to pregnant women in low-income settings such as Vietnam, providing low-risk screening option to reduce the need for invasive diagnostic tests.

BackgroundFamilial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP is caused by germ line mutations in the adenomatous polyposis coli (APC) gene located on chromosome 5q21–22.Case presentationA 36-year-old female was presented with 100–1000 adenomatous colonic polyps, typical of classic FAP symptoms. Genetic testing using massively parallel sequencing identified a 5-bp deletion (c.3927_3931delAAAGA) which causes frameshift (p.Glu1309Aspfs) and creates a premature stop codon, resulting in the replacement of the last 1535 amino acids of APC by five incorrect amino acids. Two of the proband’s four siblings also exhibited classic FAP symptoms and carried the same 5-bp heterozygous deletion in the APC gene. One of the proband’s two nephews also tested positive for this mutation but has not been examined by endoscopy due to his young age.ConclusionsWe reported here for the first time the use of massively parallel sequencing (MPS)-based genetic testing to identify a germline mutation within a three-generation Vietnamese family. This mutation is most likely responsible for the development of FAP.

IntroductionThis study aimed to elucidate the magnetic resonance (MR) characteristics of anal fistulas extending to the scrotum, and the applicable rules, and to correlate MR features with surgical findings.MethodsWe conducted a retrospective study in 150 consecutive patients with anal fistulas extending into the scrotum, who were diagnosed and underwent surgery at University Medical Center Ho Chi Minh City between January 2017 and April 2022. MR findings were evaluated and compared with surgical findings using Cohens kappa coefficient (k) with a 95% confidence interval.Results150 patients (mean age 37.6 ± 10.9 years) with 166 fistulas, including 150 anal fistulas with scrotal extension. Most fistulas were low transsphincteric (80.0%, 120/150 patients). There was a strong agreement for primary tract classification and detecting the location of internal openings between MRI and surgical findings with k = 0.83 (0.780.87) and k = 0.89 (0.85 0.93) (p<0.001), respectively. There is a significant correlation between the location of internal openings and the type of fistula (p<0.05). Low transsphincteric fistulas were predominant in the anterior group (103/122 patients vs. 10/19 patients), while in the posterior group, it was more common in the high transsphincteric fistulas (7/19 patients vs. 14/122 patients), and the intersphincteric fistulas (1/19 patients vs. 5/122 patients); and the suprasphincteric fistulas were only seen in the posterior group (1 patient).ConclusionAnal fistulas with scrotal extension are exceptions to Goodsalls rule. Albeit long-tract fistulas, most are low transsphincteric and have anterior internal openings.