Genetics
Case Stories & Diagnoses Case Study: Genetic Testing and Analysis Overview 1. Fetal Diagnosis and Testing Patient Profile: 20-week pregnant woman Conditions: Poor fetal growth, aortic arch abnormality Diagnostic Tests: Combined Tests & NIPT Result: Low-risk for trisomy 13, 18, and 21 Amniocentesis First Confirmation: Trisomy 21 (positive) Reported Negative in NIPT Second Confirmation: Reconfirmed Trisomy 21 Findings and Implications: Placental Analysis: Issue: Placental mosaicism with trisomy 21 cells not detected by NIPT Highlight: Limitations in NIPT detection capabilities 2. Chromosomal Alterations and Genetic Analysis Testing Method: FISH (Fluorescence in situ Hybridization): Application: Identify chromosome 22 alterations Patient Symptoms: Neonatal hypotonia, sucking difficulty, sepsis, cleft palate, bilateral hearing loss, DiGeorge syndrome Result: Alterations found in chromosome 22 Genetic Findings: Mutation Identification: ...