Evidence map›Paper›PMID 36269386›Full record

ArticleArchives of gynecology and obstetrics2023

Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses.

Lei Pan, Hui Liang, Zhuo Meng, Jun Wang, Rui Zhang, Yong Wu

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Article in Archives of gynecology and obstetrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.7field-weighted citation impact, top 10% of its field
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

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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

8 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
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  8. Chromosomal Microarray Analysis in Fetuses with Ultrasound Abnormalities.International journal of general medicine · 2024
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4 · The record

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5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Lei Pan *Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, 518102, China.
Hui Liang *Central Laboratory, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, 518102, China.
Zhuo MengDepartment of Medical Image Center, Medical Research Institute, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, 518102, China.
Jun WangMedical Research Institute, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, 518102, China.
Rui ZhangDepartment of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, 518102, China. zhangrui0829@163.com.
Yong WuMedical Research Institute, Baoan Women's and Children's Hospital, Jinan University, Shenzhen, 518102, China. yongwu.cn@gmail.com.ORCID 0000-0002-7060-4809
Jinan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo evaluate the value of fetal nasal bone hypoplasia and other prenatal risk factors in predicting chromosomal abnormalities.

methodsIn this retrospective cohort study, we collected data on singleton pregnancies diagnosed with fetal nasal bone hypoplasia during second-trimester ultrasound. Fetal karyotyping and chromosomal microarray analysis (CMA) were performed, and pregnancy outcomes were assessed. The association between fetal nasal bone hypoplasia and chromosomal abnormalities was evaluated according to whether other prenatal risk factors were observed.

resultsOur final analysis included 351 pregnancies, of which 62 (17.7%) fetuses had chromosomal abnormalities, including 36 cases of trisomy-21, six cases of trisomy-18, one case each of trisomy-13, and 47, XYY syndrome, and 18 cases of copy number variations (CNVs). Among the 243 cases of isolated nasal bone hypoplasia, 28 (11.5%) cases of chromosomal aberrations were identified. The incidence was significantly higher if other soft markers or structural abnormalities were simultaneously detected. Pregnancy was terminated in 43 aneuploid fetuses and nine fetuses detected with CNVs. The parents of the fetuses diagnosed with 47, XYY syndrome and the other nine CNVs chose to continue the pregnancy, and no abnormalities were detected in the newborns. Furthermore, we found that other prenatal risk factors should be considered in evaluating the likelihood of chromosomal abnormalities in fetuses with nasal bone hypoplasia.

conclusionsNasal bone hypoplasia is a highly specific soft marker that is associated with multiple chromosomal abnormalities. The risk of chromosomal abnormalities increases when combined with structural abnormalities or increased nuchal translucency (NT). Chromosomal microarray analysis is a powerful prenatal test for chromosomal abnormalities, which may be warranted in fetuses with nasal bone hypoplasia.

Indexed as

Abnormalities, MultipleTrisomyChromosome AberrationsDNA Copy Number VariationsFemaleFetusHumansInfant, NewbornMicroarray AnalysisNasal BoneNuchal Translucency MeasurementPregnancyPregnancy Trimester, SecondPrenatal DiagnosisRetrospective StudiesSex Chromosome DisordersChromosomal microarray analysisCopy number variationsNasal bone hypoplasiaPrenatal diagnosis

Identifiers

PMID36269386
OpenAlexW4306952270

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Registered trials

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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.