Shefi Shai, Raviv Gil, Rienstein Shlomit, Barkai Gad, Aviram-Goldring Ayala, Levron Jacob
Petach Tikva Andrology Practice, Petach Tikva, Israel.
J Assist Reprod Genet. 2009 Jul;26(7):411-3. doi: 10.1007/s10815-009-9334-6. Epub 2009 Aug 13.
To report the performance of fluorescence in-situ hybridization in the setting of preimplantation genetic diagnosis in order to diagnose embryos affected by DiGeorge syndrome.
Case report.
Academic referral center.
A 32 year-old female affected by DiGeorge syndrome.
INTERVENTION(S): History and physical examination, karyotyping, amniocentesis, preimplantation genetic diagnosis, fluorescence in-situ hybridization.
MAIN OUTCOME MEASURE(S): Avoidance of pregnancy with embryo affected by DiGeorge syndrome.
RESULT(S): Termination of pregnancy with an affected embryo followed by fluorescence in-situ hybridization based preimplantation genetic diagnosis and delivery of healthy offspring.
CONCLUSION(S): The combination of preimplantation genetic diagnosis with fluorescence in-situ hybridization is recommended to prevent pregnancies with DiGeorge syndrome affected embryos in properly selected patients.
报告荧光原位杂交技术在植入前基因诊断中用于诊断受22q11.2缺失综合征（DiGeorge综合征）影响胚胎的应用情况。
病例报告。
学术转诊中心。
一名32岁患有DiGeorge综合征的女性。
病史及体格检查、核型分析、羊膜穿刺术、植入前基因诊断、荧光原位杂交。
避免怀有受DiGeorge综合征影响的胚胎。
终止了怀有患病胚胎的妊娠，随后进行了基于荧光原位杂交的植入前基因诊断，并分娩出健康后代。
对于经过适当选择的患者，建议将植入前基因诊断与荧光原位杂交相结合，以防止怀有受DiGeorge综合征影响的胚胎。
