title: [Application of droplet digital PCR technology for genetic testing and prenatal diagnosis of spinal muscular atrophy].
abstract: OBJECTIVE
  To explore the clinical application of droplet digital PCR (ddPCR) for genetic testing and prenatal diagnosis of spinal muscular atrophy (SMA) with deletion of SMN1 gene exon 7.
  
  
  METHODS
  A total of 138 clinical samples, including 121 peripheral blood, 13 amniotic fluid, 2 umbilical cord blood and 2 chorionic villi from 56 SMA families, were tested by both ddPCR and multiplex ligation-dependent probe amplification (MLPA). Results of the two approaches were analyzed with commercial software QuantaSoft (ddPCR) and Coffalyser (MLPA), respectively.
  
  
  RESULTS
  Among the 138 cases, 25 had two copies, 84 had one copy, and 29 had null copy of exon 7 of the SMN1 gene. The results of ddPCR and MLPA were completely consistent.
  
  
  CONCLUSIONS
  As a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.
authors: Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrindogy of Ministry of Education, Jinan, Shandong 250000, China. Email: gaoyuan@sduivf.com.
authors: Yang
authors: Y
authors: Zou
authors: Peiwen
authors: P
authors: Xu
authors: Jie
authors: J
authors: Li
authors: Sexin
authors: S
authors: Huang
authors: Ming
authors: M
authors: Gao
authors: Ranran
authors: R
authors: Kang
authors: Xuan
authors: X
authors: Gao
authors: Yuan
authors: Y
authors: Gao
mesh_terms: D000328:Adult; D056915:DNA Copy Number Variations; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017384:Sequence Deletion; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein