Evidence map›Paper›PMID 39549115›Full record

ArticleArchives of gynecology and obstetrics2024

Non-invasive prenatal detection of dominant single-gene disorders in fetal structural abnormalities: a clinical feasibility study.

Lei Wang, Xiaoli Wu, Jing Mou, Lingyan Ren, Bei Wu, Guangxin Xiang, Jue Wang, Dan Xie, Min Guo, Yaya Geng and 2 more

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In one paragraph

Article in Archives of gynecology and obstetrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
–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

6 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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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

12 authors.

Lei Wang *School of Medicine, Guizhou University, Guiyang, 550002, China.ORCID 0009-0001-7791-0809
Xiaoli Wu *Prenatal Diagnosis Center, Guizhou Provincial People's Hospital, 83 Zhongshan East Rd., Guiyang, 550002, China.
Jing MouPrenatal Diagnosis Center, Guizhou Provincial People's Hospital, 83 Zhongshan East Rd., Guiyang, 550002, China.
Lingyan RenPrenatal Diagnosis Center, Guizhou Provincial People's Hospital, 83 Zhongshan East Rd., Guiyang, 550002, China.
Bei WuPrenatal Diagnosis Center, Guizhou Provincial People's Hospital, 83 Zhongshan East Rd., Guiyang, 550002, China.
Guangxin XiangSchool of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Jue WangObstetrics Prenatal Diagnosis Center, First Affiliated Hospital of Kunming Medical University, Kunming, 650010, Yunnan, China.
Dan XieSchool of Medicine, Guizhou University, Guiyang, 550002, China.ORCID 0000-0003-3173-3920
Min GuoSchool of Medicine, Guizhou University, Guiyang, 550002, China.
Yaya GengSchool of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
Bangquan AnSchool of Medicine, Guizhou University, Guiyang, 550002, China.
Shengwen HuangPrenatal Diagnosis Center, Guizhou Provincial People's Hospital, 83 Zhongshan East Rd., Guiyang, 550002, China. hsw713@sina.com.ORCID 0000-0003-0394-240X

Funding

Guizhou Provincial People's Hospital Fund 2020XM04Guizhou Provincial People's Hospital Fund GPPH-NSFC-2019-14Guizhou Provincial People's Hospital Fund GPPH-NSFC-D-2019-13Guizhou Provincial People's Hospital Fund gzwkj2024-037
6 · The paper itself

Abstract

objectiveThis study evaluated the accuracy of non-invasive prenatal testing (NIPT-SGDs) for dominant monogenic genetic diseases associated with fetal structural abnormalities and to assess the feasibility of clinical application.

methodsPregnant women requiring prenatal diagnosis due to fetal structural abnormalities were enrolled. Maternal peripheral blood was analyzed for cell-free DNA (cfDNA) using coordinative allele-aware target enrichment sequencing (COATE-seq). This assessed fetal allele depth distribution, fraction and variation ratio. The variation's origin was then determined to obtain fetal variation information. Finally, NIPT-SGDs results were confirmed via invasive prenatal diagnosis (IPD).

resultsUpon examination of 113 samples using NIPT-SGDs, COATE-seq successfully analyzed 112 for fetal variation, excluding one due to hemolysis. The study detected six positive cases, yielding a 5.36% detection rate. These disorders included tuberous sclerosis complex (TSC1 and TSC2 being its causative genes), Noonan syndrome (PTPN11), polycystic kidney disease (PKD1), and Kabuki syndrome (KMT2D), occurring twice each, except for Noonan and polycystic kidney disease. Two false positives were due to the mother being a genetic mosaicism. Compared to invasive whole-exome sequencing (WES), NIPT-SGDs did not detect nine positive cases of IPD dominant monogenic diseases, accurately identifying 90.18% (101/112) of the actual positive and negative cases.

conclusionOur findings demonstrate the clinical utility of NIPT-SGDs using COATE-seq in effectively identifying fetuses with dominant single-gene disorders. Furthermore, this method can be applied to all fetuses.

Indexed as

Cell-Free Nucleic AcidsFeasibility StudiesNoninvasive Prenatal TestingAdultFemaleFetusHumansNoonan SyndromePregnancyProtein Tyrosine Phosphatase, Non-Receptor Type 11Tuberous Sclerosis Complex 2 ProteinCell-Free Nucleic AcidsProtein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 2 ProteinCell-free DNA (cfDNA)Fetal structural abnormalitiesHigh-throughput sequencingNon-invasive prenatal testing (NIPT)Single-gene disorders

Identifiers

PMID39549115

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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.