Evidence map›Paper›PMID 23687552›Full record

ArticleReviews in obstetrics & gynecology2013

Prenatal screening for fragile x: carriers, controversies, and counseling.

Julie F Gutiérrez, Komal Bajaj, Susan D Klugman

Open access · greenAbstract read
In one paragraph

Article in Reviews in obstetrics & gynecology, 2013. 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
1.4field-weighted citation impact, top 18% 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

8 citing papers in PubMed, 13 citations in OpenAlex.

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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

3 authors at 1 institution in 1 country.

Julie F GutiérrezAlbert Einstein College of Medicine, Bronx, NY.
Komal Bajaj
Susan D Klugman
Albert Einstein College of Medicine · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In addition to causing developmental disability in future offspring, fragile X carrier status has important reproductive and mental health implications for the individual being tested. Accordingly, prenatal carrier screening and diagnosis using DNA-based molecular methods has become crucial in early detection, intervention, and family planning. Although the list of known genetic disorders is growing daily, controversy remains over who should be tested for fragile X. FMR1 gene mutations can result in inherited intellectual disability, infertility, and neurodegeneration syndromes that are encountered by clinicians in a variety of settings. Patients and clinicians are still largely unfamiliar with this disorder, its complicated inheritance, and its heterogeneous phenotype. Debate continues over who should be offered prenatal carrier screening. As more disease screening is offered, pretest counseling will become only more complex and clinicians will further struggle to balance the needs of the individual and allocation of public health resources.

Indexed as

FMR1 gene mutationFragile X syndromeGenetic counselingPrenatal screening

Identifiers

PMID23687552
PMCPMC3651542
OpenAlexW1581109241

What OpenQuestion holds

Textmetadata
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.