| Autor: |
Lima AD; Perola Byington Hospital - Women's Health Reference Center., Alves VR; Perola Byington Hospital - Women's Health Reference Center., Rocha AR; Perola Byington Hospital - Women's Health Reference Center., Martinhago AC; Chromosome Genomic Medicine., Martinhago C; Chromosome Genomic Medicine., Donadio N; Perola Byington Hospital - Women's Health Reference Center., Dzik A; Perola Byington Hospital - Women's Health Reference Center., Cavagna M; Perola Byington Hospital - Women's Health Reference Center., Gebrim LH; Perola Byington Hospital - Women's Health Reference Center. |
| Jazyk: |
angličtina |
| Zdroj: |
JBRA assisted reproduction [JBRA Assist Reprod] 2018 Mar 01; Vol. 22 (1), pp. 67-70. Date of Electronic Publication: 2018 Mar 01. |
| DOI: |
10.5935/1518-0557.20180010 |
| Abstrakt: |
Preimplantation genetic diagnosis was carried out for embryonic analysis in a patient with multiple endocrine neoplasia type 1 (MEN1). This is a rare autosomal-dominant cancer syndrome and the patients with MEN1 are characterized by the occurrence of tumors in multiple endocrine tissues, associated with germline and somatic inactivating mutations in the MEN1 gene. This case report documents a successful preimplantation genetic diagnosis (PGD) involving a couple at-risk for MEN1 syndrome, with a birth of a healthy infant. The couple underwent a cycle of controlled ovarian stimulation and intracytoplasmic sperm injection (ICSI). Embryos were biopsied at the blastocyst stage and cryopreserved; we used PCR-based DNA analysis for PGD testing. Only one of the five embryos analyzed for MEN1 syndrome was unaffected. This embryo was thawed and transferred following endometrial preparation. After positive βHCG test; clinical pregnancy was confirmed by ultrasound, and a healthy infant was born. PGD for single gene disorders has been an emerging therapeutic tool for couples who are at risk of passing a genetic disease on to their offspring. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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