Diagnostic differences between patients opting for non-invasive prenatal testing and patients having traditional prenatal diagnosis.

Shufa Yang, Jianyi Lv, Yanmei Si, Xiaoyan Du, Zhenwen Chen

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Article in International journal of clinical and experimental pathology, 2018. 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

0.7field-weighted citation impact, top 20% of its field

1 · What the graph read from it

What it found

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3 · Its place in the literature

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1 citing paper in PubMed, 3 citations in OpenAlex.

A retrospective analysis of 38,652 amniotic fluid karyotype.Frontiers in genetics · 2025
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4 · The record

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5 · Who and what money

Authors and funding

5 authors at 1 institution in 1 country.

Shufa YangSchool of Basic Medical Science, Capital Medical University, Beijing Key Laboratory of Cancer Invasion and Metastasis Research Beijing 100069, China.

Jianyi LvSchool of Basic Medical Science, Capital Medical University, Beijing Key Laboratory of Cancer Invasion and Metastasis Research Beijing 100069, China.

Yanmei SiLaboratory of Genetics and Metabolism, Beijing Obstetrics and Gynecology Hospital, Capital Medical University Beijing, China.

Xiaoyan DuSchool of Basic Medical Science, Capital Medical University, Beijing Key Laboratory of Cancer Invasion and Metastasis Research Beijing 100069, China.

Zhenwen ChenSchool of Basic Medical Science, Capital Medical University, Beijing Key Laboratory of Cancer Invasion and Metastasis Research Beijing 100069, China.

Capital Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo analyze possible missed chromosomal aberrations by utilization of cell-free fetal DNA (cffDNA) testing.

methodsA retrospective study of two cohorts who underwent amniocentesis or cffDNA testing was conducted. A total of 15,220 patients were included in amniocentesis group and 9,821 patients in cffDNA group. Part of the cffDNA group was followed up and informed of the results of invasive prenatal diagnosis. Chromosomal aberrations of amniocentesis group were classified according to the testing range of cffDNA testing and compared to the cffDNA group.

resultsChromosomal aberration rates in the two groups were 6.52% (992/15220) and 0.58% (57/9821), respectively. 3.75% (all patients), 3.33% (advanced maternal age), or 3.4% (positive results of serum screening) chromosome aberrations would have been missed since they exceeded the cffDNA range. Pathogenic chromosomal aberrations beyond the cffDNA testing range were estimated as 0.81%, 0.62% and 0.78% in the above three categories in amniocentesis group. Furthermore, unclear pathogenic chromosomal aberrations could be missed approximately by 1.01%, 0.92% and 0.97% in the corresponding categories in the amniocentesis group.

conclusionWith the availability of cffDNA testing, an increasing number of patients tend to refuse invasive prenatal diagnosis. This may lead to missed diagnosis of chromosomal aberrations during prenatal screening.

Indexed as

amniocentesiscell-free fetal DNA testingChromosomal aberrationsnoninvasive prenatal testing

Identifiers

PMID31938403

PMCPMC6958289

OpenAlexW3014453183

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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.