Evidence map›Paper›PMID 35428251›Full record

ArticleBMC pregnancy and childbirth2022

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome.

Corinna Simonini, Markus Hoopmann, Karl Oliver Kagan, Torsten Schröder, Ulrich Gembruch, Annegret Geipel

Open access · goldAbstract read
In one paragraph

Article in BMC pregnancy and childbirth, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.5field-weighted citation impact, top 17% 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, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Genetic Counseling of Fetal Microcephaly.Journal of medical ultrasound
    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

6 authors at 2 institutions in 1 country.

Corinna SimoniniDepartment of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany. corinna.simonini@ukbonn.de.
Markus HoopmannDepartment of Obstetrics and Prenatal Medicine, University Hospital Tuebingen, Tuebingen, Germany.
Karl Oliver KaganDepartment of Obstetrics and Prenatal Medicine, University Hospital Tuebingen, Tuebingen, Germany.
Torsten SchröderMVZ Praenatal Nuernberg, Bankgasse 3, 90402, Nuernberg, Germany.
Ulrich GembruchDepartment of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany.
Annegret GeipelDepartment of Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany.
University Hospital Bonn · DEUniversity of Tübingen · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWolf-Hirschhorn syndrome (WHS) is a common genetic condition and prenatal diagnosis is difficult due to heterogeneous expression of this syndrome and rather non-specific ultrasound findings. Objective of this study was to examine the prenatal ultrasound findings in fetuses with Wolf-Hirschhorn syndrome (WHS).

methodsRetrospective assessment of 18 pregnancies that were seen at three tertiary referral centers (Universities of Bonn, Tuebingen and Nuernberg / Germany). Findings of prenatal ultrasound examinations, genetic results and outcome were compared. Additionally, findings of our study were compared to previous small case series from the literature and then compared to data on postnatal frequencies and abnormalities in affected patients.

resultsMedian gestational age at the time of examination was 23 + 1 weeks' (range: 13 + 4 to 29 + 1 weeks') with female-to-male ratio of > 2.5:1. Most frequent ultrasound findings were facial abnormalities, symmetric IUGR and microcephaly that presented in 94.4, 83.3 and 72.2% of cases, respectively. The combination of microcephaly and hypoplastic nasal bone was a particularly characteristic finding. Growth retardation presented in all fetuses > 20 weeks, but not below. Other frequent abnormalities included cardiac anomalies in 50 and single umbilical artery (SUA) in 44.4% of fetuses.

conclusionWHS should be considered in the presence of symmetric IUGR together with microcephaly, hypoplastic nasal bone and facial abnormalities on prenatal ultrasound. Genetic testing by chromosomal microarray analysis (CMA) is strongly recommended in this context.

Indexed as

MicrocephalyWolf-Hirschhorn SyndromeFemaleHumansMalePregnancyPrenatal DiagnosisRetrospective StudiesUltrasonography, Prenatal4p-4p deletion syndromeGreek warrior helmetMicrocephalyWolf-Hirschhorn syndrome

Identifiers

PMID35428251
PMCPMC9013087
OpenAlexW4224064780

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.