Data-driven prioritization of genetic disorders for global genomic newborn screening programs.

Genomic sequencing is poised to expand newborn screening for treatable childhood-onset disorders. Over 30 international research studies and companies are exploring its use, collectively aiming to screen more than 500,000 infants. A key challenge is determining which genes to include in screening.

Genetic hallmarks of recurrent/metastatic adenoid cystic carcinoma.

BACKGROUNDAdenoid cystic carcinoma (ACC) is a rare malignancy arising in salivary glands and other sites, characterized by high rates of relapse and distant spread. Recurrent/metastatic (R/M) ACCs are generally incurable, due to a lack of active systemic therapies. To improve outcomes, deeper understanding of genetic alterations and vulnerabilities in R/M tumors is needed.

Is there a gain in chromosome 3q in the pathway to anal cancer?

Background: Chromosome 3q gain has been identified in human papillomavirus-infected cervical cancer cells.

Objective: We sought to identify the presence of chromosomal 3q gain in anal neoplasia.

Design: This was a retrospective cohort.

3q26 amplification is an effective negative triage test for LSIL: a historical prospective study.

Background: Women with low grade squamous intraepithelial lesions (LSIL) at cervical cancer screening are currently referred for further diagnostic work up despite 80% having no precancerous lesion. The primary purpose of this study is to measure the test characteristics of 3q26 chromosome gain (3q26 gain) as a host marker of carcinogenesis in women with LSIL. A negative triage test may allow these women to be followed by cytology alone without immediate referral to colposcopy.

Prenatal diagnosis of trisomy 21 through detection of trophoblasts in cervical smears.

Background: Fetal cells exfoliate in the uterine cavity during early pregnancy and are a potential source of material for NIPD.

Aims: This study was designed to test the hypothesis that fetal cells obtained from the uterine cervix during the first trimester of pregnancy could be utilized for prenatal diagnosis of chromosomal aneuploidy.

Study Design: Fetal cells retrieved from the distal endocervical canal during the first trimester of pregnancy were hybridized with chromosome 21 specific FISH probes and analyzed with an automated fluorescence microscope.