Three-dimensional Ultrasound and Genetic Syndromes

Lanna, M.; Rustico, Mariangela; Pintucci, Armando; Spaccini, Luigina; Lalatta, Faustina; Nicolini, Umberto

doi:10.5005/jp-journals-10009-1109

Cited by 3 publications

(10 citation statements)

References 38 publications

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“…Syndrome is made of particular combination of major criteria, which are fundamental to the diagnosis and minor criteria, that are just occasionally present (may be absent). 2 Furthermore, it is important to make a distinction between a syndrome, a sequence and an association.…”

Section: Defining a Fetal Syndromementioning

confidence: 99%

“…1,4 Clinical dysmorphology is the study of abnormal human development with specific accent on rare syndromes causing malformations or alterations in body form. 2 If there is one unusual feature (suspicion something is different from what we are use to see as normal) we should look further as there could be more. We also have to have in mind the possibility of numerous variations of normal, which sometimes can be recognized in parents too.…”

Section: Defining a Fetal Syndromementioning

confidence: 99%

“…These syndromes may be divided in different groups, such as orofacial clefting, craniosynostosis, abnormal development of different branchial arches and simply dysmorphic faces. 2…”

Section: Syndromes Featuring Primarily Craniofacial Anomaliesmentioning

confidence: 99%

See 2 more Smart Citations

Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle

Pooh¹,

Barišić²,

Delic³

2016

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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There are hundreds of known fetal syndromes and their variant yet, the real occurrence for most of them is not quite known, only estimated. The real incidence is probably much higher, but many of them are lost due to natural selection early, in the first few weeks of existence. Novel technology, enables us also to exchange information and improve the team's cumulative knowledge. Detection of dysmorphic features and recognizable patterns of fetal malformations and diagnosing syndromes is still big challenge in prenatal as well as postnatal period.

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Section: Defining a Fetal Syndromementioning

confidence: 99%

Section: Defining a Fetal Syndromementioning

confidence: 99%

See 1 more Smart Citation

Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle

Pooh¹,

Barišić²,

Delic³

2016

Donald School Journal of Ultrasound in Obstetrics and Gynecology

View full text Add to dashboard Cite

show abstract

“…Clinical dysmorphology is a branch of clinical genetics dedicated to the study of abnormal human development, with emphasis on syndromes expressed mostly as alterations in body morphology [14,15]. There are many pathophysiological mechanisms for fetal maldevelopment, which can be described as malformation, deformation, disruption or dysplasia [16].…”

Section: When To Suspect a Syndrome Prenatally And How To Detect Itmentioning

confidence: 99%

“…The word syndrome originates from ancient Greek meaning "running together" [17], representing a specific pattern of associated signs, symptoms, dysmorphic features and/or behaviors occurring together in the same individual [8,14,15].…”

Section: When To Suspect a Syndrome Prenatally And How To Detect Itmentioning

confidence: 99%

Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

Barišić¹,

Stanojević

Kurjak³

et al. 2017

Journal of Perinatal Medicine

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With all of our present knowledge, high technology diagnostic equipment, electronic databases and other available supporting resources, detection of fetal syndromes is still a challenge for healthcare providers in prenatal as well as in the postnatal period. Prenatal diagnosis of fetal syndromes is not straightforward, and it is a difficult puzzle that needs to be assembled and solved. Detection of one anomaly should always raise a suspicion of the existence of more anomalies, and can be a trigger to investigate further and raise awareness of possible syndromes. Highly specialized software systems for three-and four-dimensional ultrasound (3D/4D US) enabled detailed depiction of fetal anatomy and assessment of the dynamics of fetal structural and functional development in real time. With recent advances in 3D/4D US technology, antenatal diagnosis of fetal anomalies and syndromes shifted from the 2 nd to the 1 st trimester of pregnancy. It is questionable what can and should be done after the prenatal diagnosis of fetal syndrome. The 3D and 4D US techniques improved detection accuracy of fetal abnormalities and syndromes from early pregnancy onwards. It is not easy to make prenatal diagnosis of fetal syndromes, so tools which help like online integrated databases are needed to increase diagnostic precision. The aim of this paper is to present the possibilities of different US techniques in the detection of some fetal syndromes prenatally.

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Fetal syndromes: Diagnosis and management using 3D-4D sonography

Kurjak¹,

Spalldi-Barišić²,

Sibinčić³

et al. 2019

Scripta Medica

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Diagnosing fetal syndromes is a major challenge both in the prenatal and postnatal period2. The syndrome is like a big puzzle whose parts need to be carefully assembled to get a whole picture. 2 Good multidisciplinary approach, proper communication and collaboration with parents and all physician's involved are required in the diagnostic process. All available resources and tools are needed to increase diagnostic precision in the prenatal diagnosis of fetal syndromes. 4 The introduction of highly specialized software systems for three-dimensional and four dimensional ultrasound (3D/ 4D US) enable detailed assessment of the fetal anatomy and the evaluation of the dynamics of structural and functional development of the fetus in real-time. 2,4 Owing to this, clinical practice has also gained new functional tests such as the Kurjak's antenatal neurodevelopmental test (KANET); named in honor of its author; used for the evaluation of fetal brain function. 2-4,24-31 Antenatal detection and diagnosis of fetal anomalies and syndromes is shifted from the 2nd to the 1st trimester of preg

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Three-dimensional Ultrasound and Genetic Syndromes

Cited by 3 publications

References 38 publications

Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle

Antenatal Detection of Fetal Syndromes by Ultrasound: From a Single Piece to a Complete Puzzle

Diagnosis of fetal syndromes by three- and four-dimensional ultrasound: is there any improvement?

Fetal syndromes: Diagnosis and management using 3D-4D sonography

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