Evidence map›Paper›PMID 37326029›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2023

Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.

Kathleen A Drexler, Asha N Talati, Kelly L Gilmore, Rachel V Veazey, Bradford C Powell, Karen E Weck, Erica E Davis, Neeta L Vora

Open access · bronzeAbstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
5.8field-weighted citation impact, top 4% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Performance of international phenotypic criteria for prenatal exome sequencing: systematic review and comparative diagnostic accuracy study using historical individual participant data.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2025
    Pooled it
  2. Review
  3. Article
  4. Review
  5. 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

8 authors at 2 institutions in 1 country.

Kathleen A DrexlerDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC. Electronic address: kathleen.drexler@unchealth.unc.edu.
Asha N TalatiDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Kelly L GilmoreDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Rachel V VeazeyDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Bradford C PowellDepartment of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Karen E WeckDepartment of Genetics, Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Erica E DavisDepartment of Pediatrics, Department of Cell and Developmental Biology, Feinberg School of Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, IL.
Neeta L VoraDepartment of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC.
University of North Carolina at Chapel Hill · USLurie Children's Hospital · US

Funding

Unmet Needs: Achieving Equity and Support for Parents Pursuing Prenatal Diagnosis in the Genomic EraR01HD105868 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2021 to 2025
$3.4M
Early Genomic DiagnosisK23HD088742 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI VORA, NEETA L · 2017 to 2020
$685k
Genetic and Functional Dissection of Congenital Anomalies of the BrainR21TR002770 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DAVIS, ERICA ELLEN, VORA, NEETA L · 2019 to 2020
$449k
NCATS NIH HHS R21 TR002770NICHD NIH HHS K23 HD088742NICHD NIH HHS R01 HD105868
6 · The paper itself

Abstract

purposeTo evaluate whether deep prenatal phenotyping of fetal brain abnormalities (FBAs) increases diagnostic yield of trio-exome sequencing (ES) compared with standard phenotyping.

methodsRetrospective exploratory analysis of a multicenter prenatal ES study. Participants were eligible if an FBA was diagnosed and subsequently found to have a normal microarray. Deep phenotyping was defined as phenotype based on targeted ultrasound plus prenatal/postnatal magnetic resonance imaging, autopsy, and/or known phenotypes of other affected family members. Standard phenotyping was based on targeted ultrasound alone. FBAs were categorized by major brain findings on prenatal ultrasound. Cases with positive ES results were compared with those that have negative results by available phenotyping, as well as diagnosed FBAs.

resultsA total of 76 trios with FBAs were identified, of which 25 (33%) cases had positive ES results and 51 (67%) had negative results. Individual modalities of deep phenotyping were not associated with diagnostic ES results. The most common FBAs identified were posterior fossa anomalies and midline defects. Neural tube defects were significantly associated with receipt of a negative ES result (0% vs 22%, P = .01).

conclusionDeep phenotyping was not associated with increased diagnostic yield of ES for FBA in this small cohort. Neural tube defects were associated with negative ES results.

Indexed as

Brain DiseasesNeural Tube DefectsBrainExome SequencingFemaleFetusHumansPregnancyPrenatal DiagnosisRetrospective StudiesUltrasonography, PrenatalCongenital anomaliesDeep phenotypingExome sequencingFetal brain anomaliesPrenatal diagnosis

Identifiers

PMID37326029
PMCPMC10580430
OpenAlexW4380489286

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.