Evidence map›Paper›PMID 39160549›Full record

ArticleBMC medical genomics2024

Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.

Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-Min Hao

Abstract read
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In one paragraph

Article in BMC medical genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Xiuhua XuDepartment of Reproductive Medicine, Hebei Key Laboratory of Infertility and Genetics, Hebei Clinical Research Center for Birth Defects, Hebei Medical Key Discipline of Reproductive Medicine, Hebei Collaborative Innovation Center of Integrated Traditional and Western Medicine On Reproductive Disease, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.
Sijie HeHebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, Clin Lab, BGI Genomics, Shijiazhuang, 050000, China.
Gang LiDepartment of Neurology, The 980th Hospital of the People's Liberation Army Joint Logistics Support Force (Bethune International Peace Hospital), Shijiazhuang, China.
Ziwei WangDepartment of Reproductive Medicine, Hebei Key Laboratory of Infertility and Genetics, Hebei Clinical Research Center for Birth Defects, Hebei Medical Key Discipline of Reproductive Medicine, Hebei Collaborative Innovation Center of Integrated Traditional and Western Medicine On Reproductive Disease, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.
Luyi LvDepartment of Reproductive Medicine, Hebei Key Laboratory of Infertility and Genetics, Hebei Clinical Research Center for Birth Defects, Hebei Medical Key Discipline of Reproductive Medicine, Hebei Collaborative Innovation Center of Integrated Traditional and Western Medicine On Reproductive Disease, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.
Zhiming ZhaoDepartment of Reproductive Medicine, Hebei Key Laboratory of Infertility and Genetics, Hebei Clinical Research Center for Birth Defects, Hebei Medical Key Discipline of Reproductive Medicine, Hebei Collaborative Innovation Center of Integrated Traditional and Western Medicine On Reproductive Disease, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.
Qian LiCardiovascular Platform, Institute of Health and Disease, Hebei Medical University, Shijiazhuang, 050000, China.
Baojun ShiDepartment of Reproductive Medicine, Hebei Key Laboratory of Infertility and Genetics, Hebei Clinical Research Center for Birth Defects, Hebei Medical Key Discipline of Reproductive Medicine, Hebei Collaborative Innovation Center of Integrated Traditional and Western Medicine On Reproductive Disease, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China.
Gui-Min HaoDepartment of Reproductive Medicine, Hebei Key Laboratory of Infertility and Genetics, Hebei Clinical Research Center for Birth Defects, Hebei Medical Key Discipline of Reproductive Medicine, Hebei Collaborative Innovation Center of Integrated Traditional and Western Medicine On Reproductive Disease, The Second Hospital of Hebei Medical University, Shijiazhuang, 050000, China. haoguimin@hebmu.edu.cn.

Funding

Hebei Natural Science Foundation H2022206019Medical Science Research Project of Hebei Province 20211494, 20240414National Key R&D Program of China 2021YFC2700605S&T Program of Hebei 21377721D, 21377720DScience Foundation Project of The Second Hospital of Hebei Medical University 2HN202408
6 · The paper itself

Abstract

purposeThe objective of this study is to assess the carrier frequency and pathogenic variation of monogenetic diseases in a population of 114 subjects in Han Chinese from Hebei province who are undergoing assisted reproductive technology through the utilization of Expanded Carrier Screening (ECS).

methodsThe study utilized a panel consisting of 155 severe monogenic recessive genetic diseases for ECS. Next-generation sequencing technology was employed to identify specific variants associated with ECS in a cohort of 114 subjects from 97 couples, comprising 97 females and 17 male spouses.

resultsA total of 114 individuals received ECS. The carrier rate of pathogenic genes in the enrolled population was 44.74% (51/114). Among the 97 females, the carrier rate of pathogenic genes was higher in those without assisted reproduction indicators than in those with assisted reproduction indicators (59.09% vs. 41.33%). However, the carrier rate of pathogenic genes in males without assisted reproductive technology was slightly lower than that with assisted reproductive technology (40% vs. 41.67%). Among both female and male participants, the carrier rate of pathogenic genes between individuals without indicators of assisted reproduction and those with such indicators was 55.55% vs. 41.38%. In 51 carriers, 72.55% (37/51) carried one genetic variant, 25.49% (13/51) carried two genetic variants, and 1.96% (1/51) carried three genetic variants. A total of 38 pathogenic genes were detected in this study, and GJB2 and MMACHC were most common. The carrier rates of the two genes were both 5.26% (6/114). A total of 55 variations were detected, and c.235delC was most frequently found. The carrier rate was 3.51% (4/114). The incidence of couples carrying the same pathogenic genes was 1.03% (1/97).

conclusionsThe findings elucidate the carrier rate of pathogenic genes among 155 severe monogenic recessive genetic diseases and underscore the significance of ECS as a preventive measure against congenital anomalies. When both partners carry the same genetic mutation for a monogenic disease, preventive strategies can be taken in offspring through preimplantation genetic testing (PGT), prenatal genetic testing, or the utilization of donor gametes. ECS is instrumental in assessing reproductive risk, guiding fertility-related decisions, and reducing the prevalence of monogenic recessive genetic disorders in subsequent generations.

Indexed as

Genetic Diseases, InbornReproductive Techniques, AssistedAdultFemaleGenetic Carrier ScreeningGenetic TestingHeterozygoteHigh-Throughput Nucleotide SequencingHumansMaleExpanded carrier screening (ECS)Gene variantMonogenic hereditary diseasePre-implantation genetic testing

Identifiers

PMID39160549
PMCPMC11331604

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