Evidence map›Paper›PMID 34573918›Full record

ArticleDiagnostics (Basel, Switzerland)2021

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the

Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung

Open access · goldAbstract readCase Reports
In one paragraph

Article in Diagnostics (Basel, Switzerland), 2021. 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
0.2field-weighted citation impact, top 39% 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

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, 2 citations in OpenAlex.

  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

10 authors at 6 institutions in 2 countries.

Vivian Kwun Sin NgDepartment of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong, China.
Tze Kin LauDepartment of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Anita Sik Yau KanDepartment of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong, China.ORCID 0000-0001-7379-003X
Brian Hon Yin ChungDepartment of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China.
Ho Ming LukClinical Genetic Service, Department of Health, Hong Kong, China.
Wai Fu NgDepartment of Anatomical and Cellular Pathology, Hong Kong Children Hospital, Hong Kong, China.
Mengmeng ShiDepartment of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Kwong Wai ChoyDepartment of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Ye CaoDepartment of Obstetrics and Gynaecology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.
Wing Cheong LeungDepartment of Obstetrics and Gynaecology, Kwong Wah Hospital, Hong Kong, China.
Chinese University of Hong Kong · HKKwong Wah Hospital · CNDepartment of Health · CNHong Kong Adventist Hospital · CNQueen Mary Hospital · CNUniversity of Hong Kong · HK

Funding

Food and Health Bureau 04152666
6 · The paper itself

Abstract

Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed

Indexed as

cataractmicrocephalymicrophthalmiaOCLN geneprenatal diagnosiswhole genome sequencing

Identifiers

PMID34573918
PMCPMC8472215
OpenAlexW3196710090

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.