Evidence map›Paper›PMID 42016332›Full record

ArticleClinical case reports2026

Second Prenatal Diagnosis of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature.

Ying Hao, Qingfa Huang, Yong Xu, Xingping Li, Peining Li, Weiqing Wu, Bo Wu, Wenlan Liu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Ying HaoMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.ORCID https://orcid.org/0000-0001-7599-5813
Qingfa HuangMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.
Yong XuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.
Xingping LiMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.
Peining LiDepartment of Genetics Yale University School of Medicine New Haven Connecticut USA.ORCID https://orcid.org/0000-0003-4746-4905
Weiqing WuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.
Bo WuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.
Wenlan LiuMedical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Women and Children's Medical Center Southern Medical University Shenzhen Guangdong China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This case demonstrates the value of cell-free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non-specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping confirmation and integrated genetic counseling are essential for diagnosing 5q14.3q15 deletion-related BBSOAS and guiding parental decision-making.

Indexed as

5q14.3q15 deletionBosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS)cell‐free DNA screeningmolecular geneticsNR2F1 geneprenatal diagnosis

Identifiers

PMID42016332
PMCPMC13092501

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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.