PMID- 29266898
OWN - NLM
STAT- MEDLINE
DCOM- 20191022
LR  - 20191022
IS  - 1518-0557 (Electronic)
IS  - 1517-5693 (Print)
IS  - 1517-5693 (Linking)
VI  - 22
IP  - 1
DP  - 2018 Mar 1
TI  - Preimplantation genetic diagnosis for a patient with multiple endocrine neoplasia 
      type 1: case report.
PG  - 67-70
LID - 10.5935/1518-0557.20180010 [doi]
AB  - 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 betaHCG 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.
FAU - Lima, Aline Dt
AU  - Lima AD
AD  - Perola Byington Hospital - Women's Health Reference Center.
FAU - Alves, Vanessa R
AU  - Alves VR
AD  - Perola Byington Hospital - Women's Health Reference Center.
FAU - Rocha, Andressa R
AU  - Rocha AR
AD  - Perola Byington Hospital - Women's Health Reference Center.
FAU - Martinhago, Ana C
AU  - Martinhago AC
AD  - Chromosome Genomic Medicine.
FAU - Martinhago, Ciro
AU  - Martinhago C
AD  - Chromosome Genomic Medicine.
FAU - Donadio, Nilka
AU  - Donadio N
AD  - Perola Byington Hospital - Women's Health Reference Center.
FAU - Dzik, Artur
AU  - Dzik A
AD  - Perola Byington Hospital - Women's Health Reference Center.
FAU - Cavagna, Mario
AU  - Cavagna M
AD  - Perola Byington Hospital - Women's Health Reference Center.
FAU - Gebrim, Luiz H
AU  - Gebrim LH
AD  - Perola Byington Hospital - Women's Health Reference Center.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20180301
PL  - Brazil
TA  - JBRA Assist Reprod
JT  - JBRA assisted reproduction
JID - 101684552
SB  - IM
MH  - Adult
MH  - Biopsy
MH  - Blastocyst/*pathology
MH  - Female
MH  - Fertilization in Vitro
MH  - Genetic Testing/methods
MH  - Humans
MH  - Male
MH  - *Multiple Endocrine Neoplasia Type 1/genetics/pathology
MH  - Pedigree
MH  - Pregnancy
MH  - Preimplantation Diagnosis/*methods
MH  - Sperm Injections, Intracytoplasmic
PMC - PMC5844663
OTO - NOTNLM
OT  - Human reproduction
OT  - embryo biopsy
OT  - multiple endocrine neoplasia
OT  - preimplantation genetic diagnosis
COIS- CONFLICT OF INTEREST Authors disclose no potential conflicts of interest.
EDAT- 2017/12/22 06:00
MHDA- 2019/10/23 06:00
PMCR- 2018/01/01
CRDT- 2017/12/22 06:00
PHST- 2017/12/22 06:00 [pubmed]
PHST- 2019/10/23 06:00 [medline]
PHST- 2017/12/22 06:00 [entrez]
PHST- 2018/01/01 00:00 [pmc-release]
AID - 10.5935/1518-0557.20180010 [doi]
PST - epublish
SO  - JBRA Assist Reprod. 2018 Mar 1;22(1):67-70. doi: 10.5935/1518-0557.20180010.