Using three‐dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome

Benacerraf, B.; Spiro, Rhonda; Mitchell, Amanda

doi:10.1046/j.1469-0705.2000.00178.x

Cited by 58 publications

(33 citation statements)

References 12 publications

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“…However, it is still very dependent on high-resolution machines, the operator's expertise and fetal position, and subject to rendering artifacts. Three-dimensional sonography contributes to the differential diagnosis between craniosynostosis and overriding sutures in severe fetal head molding [8,13,14]. This study introduces the BSS as a novel sonographic finding, easily depicted whereas the underlying brain tissue is not visible when insonating through a fetal suture or fontanel.…”

Section: Discussionmentioning

confidence: 99%

“…Most cases are still missed during routine ultrasound (US) screening [5], especially non-syndromic single-suture synostosis with mild skull deformity [6,7]. At present there are only a few studies on prenatal US examination of the fetal cranial sutures, and the most recent works rely on two-dimensional direct examination of the suture lucency or three-dimensional rendering techniques, which present significant technical limitations [4,8,9]. …”

Section: Introductionmentioning

confidence: 99%

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The ‘Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis

Haratz

Leibovitz²,

Svirsky

et al. 2016

Fetal Diagn Ther

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Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic shadow on the underlying brain. The objective of this study was to evaluate the yield of the ‘brain shadowing sign' (BSS) as a novel sonographic marker for craniosynostosis. Subjects and Methods: Patients with an antenatal diagnosis of fetal craniosynostosis (cases) and healthy controls paired for gestational age were enrolled in this retrospective case-control study. Two-dimensional scans were assessed by three examiners for the presence of the BSS and additional fetal findings. Results: The BSS was clearly depicted in all 24 cases on the first analysis and in 22 cases on the second analysis. No fetus from the control group (n = 48) presented the BSS in any of the analyses. Fifteen cases had isolated craniosynostosis and 9 were syndromic (Apert, Saethre-Chotzen and craniofrontonasal syndromes), which were diagnosed significantly earlier due to additional malformations. Discussion: The BSS is a novel sonographic marker of craniosynostosis which can be used to increase the diagnostic rate of this rare condition and does not require the use of high-definition three-dimensional transducers to be depicted.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The ‘Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis

Haratz

Leibovitz²,

Svirsky

et al. 2016

Fetal Diagn Ther

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“…Until recently, it has been impossible to make images of obvious thumb and toe abnormalities, which are helpful in reaching a defi nitive diagnosis of Pfeiffer syndrome [2,10] . In the present case, facial abnormalities were well demonstrated with 3D ultrasound, but information on the fetal thumb and toe was very poor.…”

Section: Discussionmentioning

confidence: 99%

“…The baby's birth weight was 2,298 g; the baby was declared dead at The prenatal diagnosis of Pfeiffer syndrome type II has generally been made based on ultrasound fi ndings of abnormal cranial shape and ventriculomegaly. Recently, three-dimensional (3D) ultrasound has been used to identify fused sutures and abnormal fetal face [2] . However, cloverleaf skull associated with craniosynostosis is not a specifi c fi nding in Pfeiffer syndrome type II.…”

Section: Introductionmentioning

confidence: 99%

Usefulness of Magnetic Resonance Imaging for Accurate Diagnosis of Pfeiffer Syndrome Type II in utero

Itoh

Nojima²,

Yoshida³

2006

Fetal Diagn Ther

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Objective: To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. Case and Methods: A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of hydrocephalus. Ultrasonography of the fetus showed cloverleaf skull with dilated lateral ventricles, exophthalmos, macroglossia, and a single ventricle of the heart in addition to polyhydramnios. MR imaging was performed at 30 weeks of gestation and revealed cloverleaf skull, dilated lateral ventricles, and broad thumb. Fetal karyotyping indicated 46,XY, but DNA sequence analysis showed a single sequence variation (Nt 1198A>G) in the fibroblast growth factor receptor (FGFR) 2 gene (exon 10). On the basis of these findings, the baby was diagnosed in utero with Pfeiffer syndrome type II. Following counseling, the pregnancy was terminated because polyhydramnios made the patient’s symptoms more severe. The patient delivered her baby vaginally at 34 weeks of gestation. The baby’s birth weight was 2,298 g; the baby was declared dead at 25 min after birth. Conclusion: The detailed findings obtained by a combination of ultrasound that included three-dimensional and MR imaging and confirmation sought via molecular testing led to an accurate diagnosis of Pfeiffer syndrome type II in utero.

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“…[3,4] However, others observed less specifics not sufficient to confirm diagnosis. With the advent of 4D and 3D ultrasonic imaging allowing for visualization of finer anatomic skull details when gross malformations of the fetal calvaria occurs in-utero.…”

Section: Discussionmentioning

confidence: 99%

Cranial Fronto – Temporal Depression in a Fetus (A Case Report)

Moyosore¹,

Kofoworola²,

Kolawole³

et al. 2017

aanat

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Ultrasound shape of the crania was seen by measuring a frozen sonogram of the Biparietal Diameter (BPD) and Cranial Index (CI). The objective aims to report the value of prenatal ultrasound in identifying acute frontotemporal depression. Also, to review specific developmental skull anatomy as it relates to the formation of cranial and fontanelle anomaly. Little data exists on the prevalence of this rare heterogeneous condition; 1 in 3,600 live births with genetic or hereditary factors responsible for most cases. The report in question was observed under routine ultrasound at 26 weeks gestation. Better understanding of fetal skull development (through sonar), and calvaric sutures will further help sonologists in evaluation of fetal brain. Ongoing research developments can be used to further evaluate cranial 'osteo' development as a consequence of synchondrosis and multiple suture unity.

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Using three‐dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome

Abstract: A case of fetal Pfeiffer's syndrome is presented, showing the contribution of three dimensional (3D) sonography in the diagnosis of craniosynostosis--a major feature of this syndrome.

Cited by 58 publications

References 12 publications

The ‘Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis

The ‘Brain Shadowing Sign': A Novel Marker of Fetal Craniosynostosis

Usefulness of Magnetic Resonance Imaging for Accurate Diagnosis of Pfeiffer Syndrome Type II in utero

Cranial Fronto – Temporal Depression in a Fetus (A Case Report)

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