Evidence map›Paper›PMID 36029833›Full record

ArticleAmerican journal of obstetrics and gynecology2023

How to choose a test for prenatal genetic diagnosis: a practical overview.

Teresa N Sparks, Lorraine Dugoff

Abstract read
In one paragraph

Article in American journal of obstetrics and gynecology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Fetal Corpus Callosum Anomalies: A Review of Underlying Genetic Disorders and Prenatal Testing Options.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2025
    Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Review
  11. Fetal gene therapy.Journal of inherited metabolic disease · 2024
    Review
  12. Review
  13. 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

2 authors.

Teresa N SparksDivision of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, CA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA. Electronic address: teresa.sparks@ucsf.edu.
Lorraine DugoffDivisions of Reproductive Genetics and Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Funding

WOMEN'S REPRODUCTIVE HEALTH RESEARCH CENTERK12HD001262 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Andrea Vashti Jackson · 1998 to 2026
$9.3M
Uncovering the etiologies of non-immune hydrops fetalis through comprehensive genomic analyses and phenotypingR01HD107190 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Teresa N Sparks · 2022 to 2026
$3.6M
NICHD NIH HHS K12 HD001262NICHD NIH HHS R01 HD107190
6 · The paper itself

Abstract

Establishing the diagnosis of a fetal genetic disease in utero expands decision-making opportunities for individuals during pregnancy and enables providers to tailor prenatal care and surveillance to disease-specific risks. The selection of prenatal genetic tests is guided by key details from fetal imaging, family and obstetrical history, suspected diagnoses and mechanisms of disease, an accurate understanding of what abnormalities each test is designed to detect, and, at times, the gestational age at which testing is initiated. Pre- and posttest counseling, by or in conjunction with providers trained in genetics, ensure an accurate understanding of genetic tests, their potential results and limitations, estimated turnaround time for results, and the clinical implications of their findings. As prenatal diagnosis and testing options continue to expand rapidly, it is increasingly important for obstetrical providers to understand how to choose appropriate genetic testing and contextualize the clinical implications of their results.

Indexed as

Fetal DiseasesPrenatal DiagnosisCounselingFemaleGenetic CounselingGenetic TestingHumansPregnancychromosomal microarrayexome sequencingfetal diagnosisgenome sequencingkaryotypenext-generation sequencingprenatal diagnosisprenatal genetic testing

Identifiers

PMID36029833
PMCPMC9877133

What OpenQuestion holds

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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.