Chromosomal abnormalities study for anembryonic pregnancy by BACs-on-Beads technique.

Objective: This study evaluated the BACs-on-Beads™ (BoBs) efficiency assay in detecting chromosomal anomalies in products of conception (POC) specimens associated with anembryonic pregnancy (AP) among Thai pregnant women.

Method: Retrospective analysis applied the BoBs™ assay to examine AP samples from 2010 to 2022. The incidences of AP with chromosomal abnormalities were reported.

The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader-Willi Syndrome in Thai Patients.

Prader-Willi syndrome (PWS) is a genetic disorder caused by the expression disruption of genes on the paternally inherited allele of chromosome 15q11.2-q13. Apart from clinical diagnostic criteria, PWS is confirmed by genetic testing.

Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.

The 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome with a wide variety of clinical features.

Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy.

Leber hereditary optic neuropathy (LHON) causes painless vision loss resulting from mitochondrial DNA (mtDNA) mutation. Over 95% of LHON cases result from one of three mtDNA point mutations (m.3460G>A, m.