title: The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.
abstract: OBJECTIVE
  To investigate the usefulness of preimplantation genetic diagnosis (PGD) for the patient affected by congenital contractural arachnodactyly (CCA) and spinal and bulbar muscular atrophy (SBMA).
  
  
  METHODS
  Multiple displacement amplification (MDA) was performed for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Direct mutation detection by sequencing and next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping were used for CCA diagnosis. Direct sequencing of the PCR products and sex determination by amplification of sex-determining region Y (SRY) gene were used for SBMA diagnosis. After PGD, the unaffected blastocyst (B4) was transferred in the following frozen embryo transfer (FET).
  
  
  RESULTS
  In this PGD cycle, sixteen MII oocytes were inseminated by ICSI with testicular spermatozoa. Four blastocysts (B4, B5, B10, B13) were utilized for TE cell biopsy on day 5 after ICSI. After PGD, B4 was unaffected by CCA and SBMA. B5 was affected by CCA and carried SBMA. B10 was unaffected by CCA and carried SBMA. B13 was affected by CCA and unaffected by SBMA. B4 was the only unaffected blastocyst and transferred into the uterus for the subsequent FET cycle. The accuracy of PGD was confirmed by amniocentesis at 21 weeks of gestation. A healthy boy weighing 2850 g was born by cesarean section at the 38th week of gestation.
  
  
  CONCLUSIONS
  PGD is a valid screening tool for patienst affected of CCA and SBMA to prevent transmission of these genetic diseases from parents to children.
authors.affiliation: Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China.
authors.forename: Linjun
authors.identifier: http://orcid.org/0000-0002-2788-0365
authors.initials: L
authors.lastname: Chen
authors.affiliation: Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China.
authors.forename: Zhenyu
authors.initials: Z
authors.lastname: Diao
authors.affiliation: Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China.
authors.forename: Zhipeng
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China.
authors.forename: Jianjun
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Prenatal Diagnosis Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China.
authors.forename: Wanjun
authors.initials: W
authors.lastname: Wang
authors.affiliation: Prenatal Diagnosis Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.affiliation: Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China. yanguijun55@163.com.
authors.forename: Guijun
authors.initials: G
authors.lastname: Yan
authors.affiliation: Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China. stevensunz@163.com.
authors.forename: Haixiang
authors.initials: H
authors.lastname: Sun
mesh_terms: D054119:Arachnodactyly / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003286:Contracture / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004624:Embryo Transfer; D005260:Female; D006801:Humans; D008297:Male; D020966:Muscular Disorders, Atrophic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D019836:Preimplantation Diagnosis; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D013094:Spermatozoa / Q000254:growth & development / Q000473:pathology
chemical_list: D051876:Sex-Determining Region Y Protein
keywords: Congenital contractural arachnodactyly; Frozen embryo transfer; PGD; Spinal and bulbar muscular atrophy