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Detecting trisomy in products of conception from first-trimester spontaneous miscarriages by next-generation sequencing (NGS)

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机构: [1]Kunming Med Univ, Affiliated Hosp 1, Kunming, Yunnan, Peoples R China [2]Guangzhou Med Univ, Affiliated Hosp 3, Guangzhou, Peoples R China
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关键词: karyotype miscarriages next generation sequencing (NGS) POC trisome

摘要:
Miscarriage is the spontaneous loss of a clinically established intrauterine pregnancy before the fetus has reached viability. In order to compare the performance of traditional G banding karyotyping with next-generation sequencing (NGS) for detecting common trisomies in products of conception (POC). Chromosome abnormalities were detected by high-resolution G banding karyotyping and NGS. A total of 48 miscarriage samples, including 20 samples without karyotype result and 28 with karyotype results were selected and coded for analysis by NGS. The multiplex PCR analysis of maternal and miscarriage DNA for single nucleotide polymorphism (SNP) markers were used to simultaneously monitor maternal cell contamination (MCC), chromosomal status, and sex of the miscarriage tissue. NGS detection results of 21 chromosome abnormalities were consisted with that in karyotyping examination. These chromosome abnormalities samples included 9 chromosome 16 trisomies, 3 chromosome 22 trisomies, 2 chromosome 7 trisomies, 2 chromosome 18 trisomies, 1 chromosome 4 trisomies, one chromosome 10 trisomies, 1 chromosome 13 trisomies, 1 chromosome 15 trisomies and 1 sex chromosomal aneuploidies (45, X). Meanwhile, NGS analysis of seven chromosome normalities was adapted to the karyotyping examination. Therefore, NGS combined with multiplex PCR is an effective method to test trisomies in POC. The results mentioned above will contribute to a detailed understanding of the first-trimester spontaneous miscarriages.

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出版当年[2021]版:
大类 | 4 区 医学
小类 | 4 区 医学:内科
最新[2023]版:
大类 | 4 区 医学
小类 | 4 区 医学:内科
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出版当年[2020]版:
Q3 MEDICINE, GENERAL & INTERNAL
最新[2023]版:
Q2 MEDICINE, GENERAL & INTERNAL

影响因子: 最新[2023版] 最新五年平均 出版当年[2020版] 出版当年五年平均 出版前一年[2019版] 出版后一年[2021版]

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第一作者机构: [1]Kunming Med Univ, Affiliated Hosp 1, Kunming, Yunnan, Peoples R China
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通讯机构: [1]Kunming Med Univ, Affiliated Hosp 1, Kunming, Yunnan, Peoples R China
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