The study aimed to analyze a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) alongside fetal uniparental disomy (UPD).
Various methods like amniocentesis, SNP-array, and trio-whole exome sequencing were utilized to investigate the genetic issues, with ultrasound monitoring included.
Results indicated a normal karyotype, but SNP-array showed loss of heterozygosity on chromosome 2, confirming maternal UPD and leading to complications such as growth restriction and eventual fetal demise.