Evidence map›Paper›PMID 40041231›Full record

ArticleCase reports in perinatal medicine2022

Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum.

Ping Gong, Myriam Pelletier, Neil Silverman, Kathleen Kuhlman, Robert Wallerstein

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in perinatal medicine, 2022. 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

5 authors.

Ping GongIntegrated Genetics, Genetic Counseling and Services, Laboratory Corporation of America, Monrovia, CA, USA.
Myriam PelletierIntegrated Genetics, Genetic Counseling and Services, Laboratory Corporation of America, Monrovia, CA, USA.
Neil SilvermanDepartment of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA, USA.
Kathleen KuhlmanValley Perinatal Services, Maternal Fetal Medicine, Phoenix, AZ, USA.
Robert WallersteinIntegrated Genetics, Genetic Counseling and Services, Laboratory Corporation of America, Monrovia, CA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum. Case presentation: We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the Conclusions: Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.

Indexed as

CAKUTcongenital anomalies of the kidneys and urinary tractgenetic counselinggenetic evaluationgenetic testingmolecular geneticsprenatal careprenatal diagnosisrecurrent renal agenesisrenal agenesis

Identifiers

PMID40041231
PMCPMC11800668

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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.