Evidence map›Paper›PMID 42955140›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2026

TP-PCR combined with long-read sequencing for screening of fragile X syndrome carriers.

Chen Yujiao, Li Shanshan, Zhang Meng, Mao Aiping, Wang Xiang, Yan Yousheng, Yin Chenghong

Abstract read
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Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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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

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Chen Yujiao *Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, 100026, China.
Li Shanshan *Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, 100026, China.
Zhang MengPrenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, 100026, China.
Mao AipingDepartment of Research & Development, Berry Genomics Corporation, Beijing, 102200, China.
Wang XiangDepartment of Research & Development, Berry Genomics Corporation, Beijing, 102200, China.
Yan YoushengPrenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, 100026, China. yys_521@ccmu.edu.cn.
Yin ChenghongPrenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital, Capital Medical University, Beijing, 100026, China. yinchh@ccmu.edu.cn.

Funding

Beijing Obstetrics and Gynecology Hospital, Capital Medical University and Beijing Maternal and Child Health Care Hospital FCYYZH202402the Capital Clinical Characteristic Diagnosis and Treatment Technology Research and Translational Application Project Z221100007422012the National Key Research and Development Program of China 2023YFC2705600
6 · The paper itself

Abstract

backgroundTo accurately screen Fragile X syndrome (FXS) carriers during pregnancy, number of CGG repeats for full mutation (FM), low-proportion mosaicism, the presence of AGG interruptions, and microdeletions were identified.

methodsLong-read sequencing (LRS) was developed and evaluated premutation (PM) by comparing to triplet repeat-primed PCR (TP-PCR). In the follow-up, pregnancy outcomes in carrying FMR1 expanded alleles and the screening of their newborn offspring were inquired.

resultsThe results showed that LRS could accurately detect CGG repeats in clinical samples (blood and amniotic fluid samples) with premutation (PM). Furthermore, LRS could directly determine that mosaicism in FXS (29/48/77 repeats), offering a mosaicism ratio of 3%. The results of CGG repeats of FMR1 by LRS demonstrated that a history of infertility had PM alleles (29/71 repeats). In addition, LRS demonstrated a 71 bp deletion exon 1 of FMR1 in carrying PM, whereas CGG repeats was lower than 0 via detecting by TP-PCR.

conclusionOur study provides the first evidence of low-proportion mosaicism and microdeletion via LRS method, which may prove to be an option for the additional cases of FXS during pregnancy.

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeGenetic TestingPolymerase Chain ReactionFemaleHeterozygoteHumansMosaicismPregnancyTrinucleotide Repeat ExpansionFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1Carrier screeningCGG repeatsFragile X syndromeLRSTP-PCR

Identifiers

PMID42955140

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.