Search

Background: Face2Gene (F2G) is a software program, widely used in clinical genetics and dysmorphology for recognizing children with genetic disorders. In order to assess its accuracy in real clinical context, we applied F2G to patients from our genetic counseling center. Results: We randomly selected 151 children, who were referred to genetic counseling because of dysmorphic features and later diagnosed with a particular genetic condition. A frontal photograph was uploaded to the program, and at least three phenotypic traits were selected for each case. Date of birth, sex, weight, height, and head circumference were also entered in the software. The efficacy of the program to correctly diagnose the syndrome based on the facial analysis and/or phenotypic traits was assessed. In 56% (84 cases) of the patients, the F2G program accurately identified the correct diagnosis in its top three suggestions. Forty-seven percent (71 cases) of the patients had the correct diagnosis after applying only facial analysis. There was a statistically significant difference between the two types of analysis—p = 0.001. In 19 of the cases where F2G was unable to identify the correct diagnosis among the top three options based on phenotypic and facial analysis, the diagnosis was included among the 30 suggested syndromes, yielding a total success rate of 68%. The diagnosis was found in the ultra-rare syndromes' suggestions area in six more cases. Conclusions: Our results show that F2G has a good overall performance, but adding phenotypic features to the case under study may increase even further its diagnostic capacity. [ABSTRACT FROM AUTHOR]

Introduction. The purpose of this study was to compare the role of the thrombophilic variants among two groups of high risk patients with vascular disorders and recurrent pregnancy loss.

Background. Kabuki syndrome is a rare disorder, that is characterized by typical facial dysmorphism, hypotonia, delay in intellectual and motor development. Case report. We present a case of a girl in whom polycystic left kidney was prenatally established. Born prematurely in 37 weeks by C section due to oligohydramnios. After birth, atresia of the anus with fistula, cysts in the left and reduced dimensions of the right kidney, were further established. A normal female karyotype was found and targeted sequencing analysis was conducted on a panel of 81 genes associated with renal abnormalities – no pathogenic variants were detected. The child was then followed up by its general practitioner. At the age of 2 years, she was again referred for genetic counseling, which revealed the following dysmorphic signs – long eye palpebral fissuras with ectropion of the lower eyelid, sparsed lateral eyebrows, depression of the nasal bridge, brachydactyly and others characteristic of Kabuki’s syndrome. The conducted molecular genetic analysis confirmed the clinical diagnosis – a likely pathogenic variant in the KMT2D gene was established. Conclusions. Certain pathognomonic facial may not present at birth and only appear after a few years. Therefore, monitoring of the evolution of dysmorphic traits is required. [ABSTRACT FROM AUTHOR]

There is increasing data that IVS8-5T variand and TG repeats could lead to impaired spermatogenesis. To investigate this we performed Sanger sequencing on 50 Bulgarian men with a sperm count below 5 × 106/mL and 20 normal fertile men. Frequencies of the results were compared among the two groups. A meta-analysis was perfomed by using the data for 6,423 patients and 5,834 control subjects, tested for the IVS8-5T polymorphism. One case subject (2.0%) was homozygote for the 5 T/5T variant whereas two (4.0%) were heterozygotes for the 5 T/7T variant. No 5 T alleles were found in the control group. The genotypes of the two groups showed a statistically significant difference (p = 0.04, α < 0.05). Also, the odds ratio was 3.73, but this was unsignificant (p = 0.38). All control subjects had 11 TG repeats and for the test group: 47 (94.0%) men with 11 TG repeats and three (6.00%) with 10 TG repeats. Fisher's test showed no significant difference (p = 0.55). The meta-analysis showed that IVS8-5T variant was a risk factor for impaired spermatogenesis (OR = 2.84, p < 0.05) and this was more prominent for non-European (OR = 4.50, p < 0.05) compared to European (OR = 1.28, p < 0.05) men. The IVS8 − 5 T variant could be associated with disorders of sperm production. [ABSTRACT FROM AUTHOR]

Copyright of Turkish Journal of Obstetrics & Gynecology is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background : NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test's usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value. Our study is the first to describe NIPT integration in Bulgaria. We aimed to evaluate current trends in demand and referral, the frequency of high-risk results, cases of fetal sex discrepancies and their impacts, as well as commonly held misconceptions during genetic counseling. We also address issues and necessary general prophylaxis and prenatal care improvements. Methods : We performed a retrospective analysis on the pregnant women who received GC for NIPT in our genetic center between 2016 and 2023. We separated this period into two due to a significant difference in the test's price. A total of 635 women were included with their referral indications, panel width preference, fetal sex, and SCA. We assessed cases of fetal sex discrepancy, high-risk pregnancies, late NIPT (after GW 18), and commonly occurring issues and misconceptions. Results : We observed a significant increase in the demand for NIPT-63 women for 2016-2020 versus 572 for 2021-2023. The leading indications were supervision of normal pregnancy (50.4%) and advanced maternal age (>35 years) (31.2%). As for late NIPT, the most common indications for this late testing were high risk from a maternal serum screening test (33.3%) and anxiety (25%). Further, 1.1% of results were high-risk for trisomy 18 and 21 and monosomy X. We reviewed two cases of fetal sex discrepancy (0.3%) and common misconceptions twice more during pre-test GC. Conclusions : This single-center experience shows that demand for NIPT is exponentially growing, especially as a normal pregnancy screening method. Delivering thorough education to the community and guaranteeing outstanding care during genetic counseling sessions is crucial for fostering informed decisions and overall well-being.