Application value of single nucleotide polymorphism array testing applied to products of conception from miscarriage

Abstract

Objective To evaluate the application value of assaying the products of conception (POC) of miscarriage with single nucleotide polymorphism (SNP) array in the etiology analysis and genetic counseling of miscarriage. Methods A total of 143 pregnant women were chosen as study subjects.They were diagnosed as embryos stop developing by ultrasonography and terminated pregnancy from May 2016 to July 2017 in Renmin Hospital of Wuhan University. SNP-array was conducted to test the POC of these pregnant women, and characteristics of the chromosomal abnormalities of POC were summarized. Meanwhile, the constituent ratios of age at expected date of delivery (<35 years old and ≥35 years old) between pregnant women with and without POC chromosomal abnormality was compared by chi-square test. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Renmin Hospital of Wuhan University.Informed consent was obtained from each participant. Results ①Among 143 singleton pregnancies, we obtained results of 128 eligible samples which met the requirements of SNP-array testing from 143 samples of POC, and the success rate of SNP-array testing for POC was 89.5%. SNP-array testing of POC showed that the proportion of chromosomal abnormalities was 57.0%(73/128), including 1 case (1.4%, 1/73) of structural abnormality of chromosome (1p36 micro-deletion), and 72 cases (98.6%, 72/73) of numerical abnormalities of chromosome. ②The types distribution of 72 cases of numerical abnormalities of chromosome were 59.7%(43/72) of trisomy, 18.1%(13/72) of monosomy, 13.9%(10/72) of triploidy and 8.3%(6/72) of mosaicism. ③The constituent ratios of age at expected date of delivery of <35 years old and ≥35 years old in pregnant women with POC chromosomal abnormality were 67.1%(49/73) and 32.9%(24/73), respectively, and were 80.0%(44/55) and 20.0%(11/55) in pregnant women without POC chromosomal abnormality, respectively, and there was no significant difference between pregnant women with and without POC chromosomal abnormality (χ2=2.618, P=0.106). Conclusions SNP-array testing for detecting the chromosomal abnormalities of POC from miscarriage can provide a basis of miscarriage etiology analysis, and also play a certain role in clinical genetic counselling and future pregnancy planning. Key words: Polymorphism, single nucleotide; Microarray analysis; Abortion, spontaneous; Chromosome aberrations; Genetic counseling; Pregnant women