Evidence map›Paper›PMID 31893246›Full record

ArticlePorto biomedical journal

Preimplantation genetic testing for Huntington disease: the perspective of one Portuguese center.

Diogo Ferreira, Berta Carvalho, Ana P Neto, Joaquina Silva, Ana M Póvoa, Alberto Barros, Filipa Carvalho

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Porto biomedical journal. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 58% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Review
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

7 authors at 3 institutions in 1 country.

Diogo FerreiraServiço de Genética, Departamento de Patologia, Faculdade de Medicina, University of Porto.
Berta CarvalhoServiço de Genética, Departamento de Patologia, Faculdade de Medicina, University of Porto.
Ana P NetoServiço de Genética, Departamento de Patologia, Faculdade de Medicina, University of Porto.
Joaquina SilvaCentro de Genética da Reprodução A. Barros.
Ana M PóvoaInstituto de Investigação e Inovação em Saúde, i3s, Universidade do Porto.
Alberto BarrosServiço de Genética, Departamento de Patologia, Faculdade de Medicina, University of Porto.
Filipa CarvalhoServiço de Genética, Departamento de Patologia, Faculdade de Medicina, University of Porto.
Universidade do Porto · PTi3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto · PTCentro de Genética Clínica · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHuntington disease (HD) is an autosomal dominant late-onset neurodegenerative disease caused by an unstable cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin (

methodsInformation about 15 HD couples referred for PGT and 21 cycles performed from 2009 to 2018 was collected retrospectively. PGT provide direct testing of embryos obtained after intracytoplasmic sperm injection, using polymerase chain reaction multiplex as the genetic testing protocol.

resultsPGT for HD was performed in 15 couples, with no history of previous attempts, in a total of 21 cycles. The mean number of biopsied embryos per cycle was 4.9. The amplification efficiency in blastomeres was 87.4%. From the 90 amplified embryos, 32 were normal and suitable for transfer. The mean number of transferred embryos per couple was 1.2.Overall, 3 positive human chorionic gonadotropin tests were obtained in 3 couples, resulting in 2 clinical pregnancies. The 2 ongoing clinical pregnancies had normal evolution, and culminated in 2 deliveries, resulting in the birth of 2 healthy children.

conclusionsPGT for HD is considered an effective and safe reproductive option for couples who are at risk of transmitting HD, when proper genetic and reproductive counseling is warranted.

Indexed as

assisted reproductive technologiesembryoHuntingtonpreimplantation genetic testing

Identifiers

PMID31893246
PMCPMC6924977
OpenAlexW2951591995

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.