A case of assisted pregnancy by PGT-M in a patient carrying NDP gene mutation combined with undifferentiated connective tissue disease and thrombosis
10.3760/cma.j.cn101441-20230821-00076
- VernacularTitle:NDP基因变异携带合并未分化结缔组织病及血栓患者通过PGT-M成功助孕1例
- Author:
Minhui ZENG
1
;
Lingyan ZHENG
1
;
Nengyong OUYANG
1
;
Ruiqi LI
1
;
Hui CHEN
1
;
Wenjun WANG
1
Author Information
1. 中山大学孙逸仙纪念医院妇科生殖内分泌专科 广东省妇产疾病临床医学研究中心，广州 510000
- Publication Type:Journal Article
- Keywords:
Norrie disease;
Thrombosis;
Undifferentiated connective tissue diseases;
Preimplantation genetic testing
- From:
Chinese Journal of Reproduction and Contraception
2024;44(4):413-418
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the experience of assisted pregnancy through preimplantation genetic testing for monogenic diseases (PGT-M) in a Norrie disease family where the female has undifferentiated connective tissue disease and thrombosis.Methods:This article mainly reported the clinical process for a patient with a heterozygous deletion in exon 2 of the NDP gene combined with undifferentiated connective tissue disease and thrombosis, which was conducted through a multidisciplinary diagnostic and therapeutic process involving reproductive genetics, reproductive medicine, ophthalmology, rheumatology, and obstetrics. The stages of treatment included family pedigree construction, controlled ovarian hyperstimulation, embryo testing, frozen-thawed embryo transfer, amniocentesis, as well as antenatal and perinatal monitoring. Results:The patient successfully conceived and gave birth to a healthy baby girl at full term.Conclusion:Through multidisciplinary management, we successfully helped the couple achieve a healthy offspring with one PGT-M cycle, thus relieved their psychological and physiological burden.
