Comparative study of single-nucleotide polymorphism array and next generation sequencing based strategies on triploid identification in preimplantation genetic diagnosis and screen.
Triploidy occurred about 2-3% in human pregnancies and contributed to approximately 15% of chromosomally caused human early miscarriage. It is essential for preimplantation genetic diagnosis and screen to distinct triploidy sensitively. Here, we performed comparative investigations between MALBAC-NGS and MDA-SNP array sensitivity on triploidy detection. Self-correction and reference-correction algorism were used to analyze the NGS data. We identified 5 triploid embryos in 1198 embryos of 218 PGD and PGS cycles using MDA-SNP array, the rate of tripoidy was 4.17‰ in PGS and PGD patients. Our results indicated that the MDA-SNP array was sensitive to digyny and diandry triploidy, MALBAC-NGS combined with self and reference genome correction strategies analyze were not sensitive to detect triploidy. Our study demonstrated that triploidy occurred at 4.17‰ in PGD and PGS, MDA-SNP array could successfully identify triploidy in PGD and PGS and genomic DNA. MALBAC-NGS combined with self and reference genome correction strategies were not sensitive to triploidy.
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Jiawei
J
Xu
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Wenbin
W
Niu
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Zhaofeng
Z
Peng
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Xiao
X
Bao
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Meixiang
M
Zhang
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Linlin
L
Wang
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Linqing
L
Du
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Nan
N
Zhang
The First Affiliated Hospital of Zhengzhou University, Centre for Reproductive Medicine, Zhengzhou, Henan 450000, China.
Yingpu
Y
Sun
D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D001755:Blastocyst; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D059785:Karyotype; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D057885:Triploidy
MALBAC; SNP array; next generation sequencing; preimplantation genetic diagnosis and screen; triploidy