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The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

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.

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Acknowledgments

We thank the family for their participation in this study. We are extremely grateful to Peking Jabrehoo Med Tech., Ltd for this work. This work was funded by Medical Science and technology development Foundation, Nanjing Department of Health (YKK15070), and the special grant for clinical medicine science of Jiangsu Province (BL2014003).

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Author notes

    Authors and Affiliations

    1. Reproductive Medical Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China

      Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan & Haixiang Sun

    2. Prenatal Diagnosis Center, Drum Tower Hospital Affiliated to Nanjing University Medical College, Nanjing, Jiangsu, 210008, China

      Wanjun Wang & Jie Li

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    1. Linjun Chen
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    2. Zhenyu Diao
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    3. Zhipeng Xu
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    Corresponding authors

    Correspondence to Guijun Yan or Haixiang Sun.

    Ethics declarations

    The couple signed informed consent forms for ICSI treatment, PGD, and follow-up.

    This project was approved by the Ethics Committee of the Drum Tower Hospital, which is affiliated to Nanjing University Medical College.

    Conflict of interest

    The authors declare that they have no conflict of interest.

    Additional information

    The URLs for data in this article are as follows:

    OMIM, http://www.ncbi.nlm.nih.gov/omim/

    1000 Genomes, http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/

    Primers design for PGH, https://www.ampliseq.com/

    Capsule

    A description of a PGD cycle for the diagnosis of CCA and SBMA, resulting in the birth of a healthy boy.

    Linjun Chen and Zhenyu Diao contributed equally to this work.

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    Cite this article

    Chen, L., Diao, Z., Xu, Z. et al. The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. J Assist Reprod Genet 33, 1459–1466 (2016). https://doi.org/10.1007/s10815-016-0760-y

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    • DOI: https://doi.org/10.1007/s10815-016-0760-y

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