Chromosome abnormality analysis of 7 036 chorionic villi inspontaneous miscarriage cases by multiplex ligation-dependent probe amplification / 中华检验医学杂志

ABSTRACT

Objective To investigate chromosomal aneuploidy of chorionic villior tissue from embryo arrestor spontaneous miscarriage by the method of multiplex ligation-dependent probe amplification(MLPA), and to provide genetic etiology data for recurrent spontaneous abortion(RSA) and embryo arrest.Methods The clinical retrospective analysis was used during November 2013 to October 2016 in Shenzhen Maternity and Child Healthcare Hospital.The genomic DNA of 7 036 chorionic villi or tissue samples from embryo arrestor pregnancy loss were extracted by resin and Proteinase K, following detected by multiplex ligation-dependent probe amplification, and then analyzed by descriptive and frequency statistic using SPSS17.0 software.Results Totally 2 984 samples (42.41%) with chromosomal aneuploidy were detected, of which, the top five were trisomy 16(826)11.74%, monosomy X (Turner,401)5.70%, trisomy 22(247)3.51%, trisomy 13(149)2.12% and trisomy 21(144)2.05%.Aneuploidy 19 or 17 were rare,just 1 and 3 cases respectively.The aneuploidy of chromosome 1 was not discovered yet.There were 161 samples (2.28%) for segmental deletion and/or duplication cases.Besides of the monosomy X(Turner,401), monsomy 21 was also high frequency(17,0.24%).In addition, 56 samples(0.80%)were double trisomic,while 2 samples(0.03%)were tris-trisomy.Thirteen samples(0.18%)were heterosome trisomy,and five samples(0.07%)were Turner combined trisomy.Fifteen samples(0.21%) were unbalanced translocation of the arm,while 20 samples(0.28%) were nonhomologous chromosome translocation.Conclusions Trisome and monosome were the majority of chromosome abnormality (above 90%), as well as the main cause of spontaneous miscarriage.Meanwhile the chromosome aneuploidy (including segment deletion or duplication) could be screened by MLPA quickly, thoroughly and efficiently, further more discover the carrier of balanced translocation in couples and provide valuable genetic information for next pregnancy.