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早孕期自然流产胚胎细胞遗传学分析

Cytogenetic Analysis of the Products of Conception After Spontaneous Abortion in the First Trimester.

机构信息

Tianjin Medical University, Tianjin, China.

Department of Gynecologic Oncology, Central Clinical College of Gynecology and Obstetrics, Tianjin Medical University, Tianjin, China.

出版信息

Cytogenet Genome Res. 2021;161(3-4):120-131. doi: 10.1159/000514088. Epub 2021 May 11.

DOI:10.1159/000514088
PMID:33975305
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8317611/
Abstract

In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneuploidies, 11 triploidies, 10 complex abnormalities, and 9 segmental aneuploidies. The most common abnormal chromosomes were chromosome 16 in the embryo-transfer group and sex chromosomes in the natural-conception group. The most common abnormal chromosomes in all analyzed maternal age groups were sex chromosomes, 16, and 22. The chromosomal abnormality incidence was related to age and number of spontaneous abortions (both p < 0.05), but not to number of pregnancies, deliveries, induced abortions, or methods of conception (all p > 0.05). The rates of abnormality for chromosomes 12, 15, 20, and 22 increased with age, while the rates for chromosomes 6, 7, 13, and X decreased. In all age groups, aneuploidy was by far the most common abnormality; however, the low-incidence distributions of chromosomal abnormalities were entirely different. Overall, chromosomal aneuploidy was the primary cause of pregnancy loss in the first trimester, and low-frequency abnormalities differed across age subgroups. Chromosomal aberrations were found to be related to maternal age and spontaneous abortion, but not all chromosomal abnormalities increased with age.

摘要

在本研究中,我们回顾性招募了 340 名自然流产患者,以研究其孕早期胚胎产物的染色体异常情况,并对相关临床因素进行了分析。这些患者中,165 名患者的胚胎产物存在染色体异常,包括 135 例非整倍体、11 例三倍体、10 例复杂异常和 9 例片段性非整倍体。在胚胎移植组中最常见的异常染色体为 16 号染色体,而在自然受孕组中最常见的异常染色体为性染色体。在所有分析的年龄组中,最常见的异常染色体均为性染色体、16 号和 22 号染色体。染色体异常的发生率与年龄和自然流产次数有关(均 p < 0.05),但与妊娠次数、分娩次数、人工流产次数和受孕方式无关(均 p > 0.05)。染色体 12、15、20 和 22 的异常率随年龄增长而增加,而染色体 6、7、13 和 X 的异常率则降低。在所有年龄组中,非整倍体是最常见的异常类型;然而,不同年龄组的低频异常分布完全不同。总的来说,染色体非整倍体是孕早期妊娠丢失的主要原因,且低频异常在不同年龄亚组中的分布情况存在差异。染色体异常与母亲年龄和自然流产有关,但并非所有染色体异常都随年龄增长而增加。

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本文引用的文献

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Variations in chromosomal aneuploidy rates in IVF blastocysts and early spontaneous abortion chorionic villi.体外受精囊胚和早期自然流产绒毛组织中染色体非整倍体率的变化。
J Assist Reprod Genet. 2020 Mar;37(3):527-537. doi: 10.1007/s10815-019-01682-9. Epub 2020 Jan 6.
2
Maternal age, history of miscarriage, and embryonic/fetal size are associated with cytogenetic results of spontaneous early miscarriages.母亲年龄、流产史和胚胎/胎儿大小与自发性早期流产的细胞遗传学结果有关。
J Assist Reprod Genet. 2019 Apr;36(4):749-757. doi: 10.1007/s10815-019-01415-y. Epub 2019 Feb 9.
3
Human blastocysts of normal and abnormal karyotypes display distinct transcriptome profiles.正常核型和异常核型的人类囊胚显示出明显不同的转录组特征。
Sci Rep. 2018 Oct 8;8(1):14906. doi: 10.1038/s41598-018-33279-0.
4
Impact of Maternal Age on Oocyte and Embryo Competence.母亲年龄对卵母细胞和胚胎能力的影响。
Front Endocrinol (Lausanne). 2018 Jun 29;9:327. doi: 10.3389/fendo.2018.00327. eCollection 2018.
5
The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos.人类卵母细胞和胚胎前体中片段非整倍体的发生率和起源。
Hum Reprod. 2017 Dec 1;32(12):2549-2560. doi: 10.1093/humrep/dex324.
6
Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.通过常规细胞遗传学分析检测到的早孕期流产产物中的染色体异常:1000 例病例回顾。
J Assist Reprod Genet. 2018 Feb;35(2):265-271. doi: 10.1007/s10815-017-1069-1. Epub 2017 Oct 30.
7
Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging.人类女性减数分裂的修正:高级基因组学和延时成像技术对染色体分离和非整倍体机制的新见解。
Hum Reprod Update. 2017 Nov 1;23(6):706-722. doi: 10.1093/humupd/dmx026.
8
The Molecular Revolution in Cutaneous Biology: Era of Cytogenetics and Copy Number Analysis.皮肤生物学的分子革命:细胞遗传学与拷贝数分析时代
J Invest Dermatol. 2017 May;137(5):e57-e59. doi: 10.1016/j.jid.2016.11.043.
9
The cumulative dose of gonadotropins used for controlled ovarian stimulation does not influence the odds of embryonic aneuploidy in patients with normal ovarian response.用于控制性卵巢刺激的促性腺激素累积剂量不影响卵巢反应正常患者胚胎非整倍体的几率。
J Assist Reprod Genet. 2017 Jun;34(6):749-758. doi: 10.1007/s10815-017-0909-3. Epub 2017 Mar 20.
10
Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens.流产标本染色体检测的细胞遗传学与分子核型分析比较。
Fertil Steril. 2017 Apr;107(4):1028-1033. doi: 10.1016/j.fertnstert.2017.01.022. Epub 2017 Mar 7.