Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome

Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome. Chen CP. Taiwan J Obstet Gynecol. 2023;62(5):782-783. doi:10.1016/j.tjog.2023.07.028. Learn more

• NIPT at 13 weeks revealed a result suspicious of T7. Amniocentesis at 19 weeks revealed a karyotype of 46,XX; parental karyotypes were normal; QF-PCR (quantitative fluorescence polymerase chain reaction) analysis on DNA extracted from uncultured amniocytes and parental bloods excluded UPD7; aCGH (array comparative genomic hybridization) on DNA extracted from uncultured amniocytes revealed the result of arr(1-22,X)x2.
• The neonate manifested growth deficiency, persistent hypoglycemia, and psychomotor developmental delay.
• “In conclusion, we suggest that UPD 7 testing for UPD 7 is necessary during amniocentesis in case of the NIPT result suspicious of trisomy 7.”