First‐trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome

Teoh, Mark; Meagher, Simon

doi:10.1002/uog.141

Cited by 40 publications

(36 citation statements)

References 6 publications

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“…Micrognathia can be detected as an isolated structural anomaly, as one of the features of a chromosomal abnormality, or a syndrome [24]. Congenital micrognathia and lowest ears are frequently detected together as shown in Figure 34, in cases with chromosomal aberrations and other syndromic diseases, because mandibula and ears arises from the first pharyngeal (branchial) arch.…”

Section: Facial Abnormalitiesmentioning

confidence: 99%

3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy

Pooh¹,

Kurjak

2011

The Journal of Maternal-Fetal & Neonatal Medicine

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Section: Facial Abnormalitiesmentioning

confidence: 99%

3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy

Pooh¹,

Kurjak

2011

The Journal of Maternal-Fetal & Neonatal Medicine

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“…Mandibular hypoplasia is a primary defect that occurs early in gestation between the 7 th and 11 th week of gestation and causes the tongue to be maintained high up in the oral cavity, which subsequently prevents fusion of the posterior soft palate [16,37]. Prenatal diagnosis of micrognathia in PRS by 3D US can be unveiled in the 1 st trimester of pregnancy, as reported by several authors [13,38,39]. Pooh and Kurjak [13] pictorially presented mandibular hypoplasia and slow jaw development in a case of PRS during pregnancy.…”

Section: Syndromes Featuring Primarily Craniofacial Anomaliesmentioning

confidence: 70%

“…Serial 3D scans can be used to clearly reveal improvement and the progress of mandibular growth over several weeks [13,37]. The catch-up growth of the mandible occurs during the first year of life and the adjusted profile of the child can be expected between the 3rd and 6th year of life [38][39][40]. Isolated PRS (without any other associated malformation) occurs in about 50% of cases; however, in the other half of the cases, PRS is part of a malformation syndrome.…”

Section: Syndromes Featuring Primarily Craniofacial Anomaliesmentioning

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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“…23 Micrognathia can be detected as an isolated structural anomaly, as one of the features of a chromosomal abnormality, or a syndrome. 24 Congenital micrognathia and lowest ears are frequently detected together as shown in Figure 34, in cases with chromosomal aberrations and other syndromic diseases, because mandibula and ears arises from the first pharyngeal (branchial) arch. Assessment of the facial features, chin development, and mandibular size by 3D ultrasound in the second and third trimesters has been reported.…”

Section: Facial Abnormalitiesmentioning

confidence: 99%

Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

Pooh¹,

Kurjak²,

Chervenak³

2012

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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The introduction of three-dimensional (3D)/four-dimensional (4D) sonography with high-frequency transvaginal transducer has resulted in remarkable progress in ultrasonographic visualization of early embryos and fetuses and development of new fields of 3D sonoembryology. With the proper use of this new diagnostic modality and with experienced examiner, both structural and functional development in the first trimester of gestation can be assessed more objectively and reliable.Indeed, new technology moved embryology from postmortem studies to the in vivo environment. Furthermore, there are good reasons to believe that 3D/4D sonography moved prenatal diagnosis of fetal abnormalities from the second to the first trimester of pregnancy. We will try to illustrate it with the number of convincing figures.

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First‐trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome

Abstract: ABSTRACT

Cited by 40 publications

References 6 publications

3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy

3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy

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

Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

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