Background: Whole exome sequencing (WES) has been recommended to investigate the genetic cause of fetal structural anomalies. In this retrospective study, we aimed to evaluate the diagnostic yield of WES in our cohort of families with pregnancy loss or termination of pregnancy due to structural anomalies.
Methods: As aneuploidy, triploidy and copy number variations (CNVs) could be detected by exome-based CNV analysis, only WES is performed in this study. And the results of 375 cases assessed by WES were analyzed.
Results: The overall detection rate was 32.3% (121/375), including aneuploidy and triploidy (7.5%, 28/375), CNVs (5.1%, 19/375) and single-nucleotide variants (SNVs) /insertions or deletions (Indels) (19.7%, 74/375). Among these, the diagnostic yield for likely pathogenic (LP) or pathogenic (P) CNVs is 4.8% (18/375), and the diagnostic yield for LP or P SNVs/Indels is 15.2% (57/375). And an additional 4.8% (18/375) of cases had CNVs or SNVs/Indels classified as variants of uncertain significance (VUS) with potential clinical significance.
Conclusions: Our findings expand the known mutation spectrum of genetic variants related to fetal abnormalities, increase our understanding of prenatal phenotypes, and enable more accurate counseling of recurrence risk for future pregnancies.
Effective repair of large bone defects through bone tissue engineering (BTE) remains an unmet clinical challenge. Successful BTE requires optimal and synergistic interactions among biocompatible scaffolds, osteogenic factors, and osteoprogenitors to form a highly vascularized microenvironment for bone regeneration and osseointegration. We sought to develop a highly effective BTE system by using 3D printed citrate-based mPOC/hydroxyapatite (HA) composites laden with BMP9-stimulated human urine stem cells (USCs).
Background: Iron deficiency anaemia (IDA) related to occult gastrointestinal tract (GIT) blood loss is associated with high rates of GIT malignancies. Major society guidelines recommend bidirectional endoscopic evaluation for all men and post-menopausal women with newly diagnosed, unexplained IDA. However, in patients prescribed direct oral anticoagulants (DOACs), the endoscopic yield, specifically the rate of high-risk findings, including colorectal cancers (CRCs) and advanced adenomas (AAs), is unknown.
In sensory perception, stochastic resonance (SR) refers to the application of noise to enhance information transfer, allowing for the sensing of lower-level stimuli. Previously, subjective-assessments identified SR in vestibular perceptual thresholds, assessed using a standard two alternative (i.e.
In the present investigation, 13% ± 0.84 of the extracted and purified phycocyanin from Phormidium versicolor was obtained, with a purity of 0.69 following dialysis.
Background: Adult and congenital syphilis rates are rising in the US. The aim of this pre- and post-implementation study was to determine whether implementation of an opt-out laboratory-based and rapid syphilis point-of-care testing program in the emergency department (ED) improves the detection and treatment of syphilis during pregnancy in a high-prevalence region.
Methods: This pre-and post-implementation study was conducted at the University of Texas Health Science Center, Houston, TX.
