Prenatal Diagnosis of a Fetus with Ring Chromosomal 15 by Two- and Three-Dimensional Ultrasonography

We report on a prenatal diagnosis of ring chromosome 15 in a fetus with left congenital diaphragmatic hernia (CDH) and severe intrauterine growth restriction (IUGR). A 31-year-old woman, gravida 2 para 1, was referred because of increased nuchal translucency at gestational age of 13 weeks. Comprehensive fetal ultrasound examination was performed at 19 weeks revealing an early onset IUGR, left CDH with liver herniation, and hypoplastic nasal bone. Three-dimensional ultrasound (rendering mode) showed low set ears and depressed nasal bridge. Amniocentesis was performed with a result of a 46,XX,r(15) fetus after a cytogenetic study. A 1,430 g infant (less than third percentile) was born at 36 weeks. The infant presented with respiratory failure and died at 2 h of life. Postnatal karyotype from the umbilical cord confirmed the diagnosis of 15-ring chromosome. We described the main prenatal 2D- and 3D-ultrasound findings associated with ring chromosome 15. The interest in reporting the present case is that CDH can be associated with the diagnosis of 15-ring chromosome because the critical location of the normal diaphragm development is at chromosome 15q26.1-q26.2.

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Novel Application of HDlive Silhouette and HDliveFlow: Clinical Significance of the ‘See-through Fashion’ in Prenatal Diagnosis

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1447 ◽

2016 ◽

Vol 10 (1) ◽

pp. 90-98 ◽

Cited By ~ 2

Author(s):

Ritsuko K Pooh

Keyword(s):

Prenatal Diagnosis ◽

Clinical Significance ◽

Fluid Collection ◽

Three Dimensional ◽

Morphological Structure ◽

Clinical Information ◽

3D Ultrasound ◽

The Body ◽

High Definition ◽

Fetal Ultrasound

ABSTRACT Owing to prenatal ultrasound technology, there has been an immense acceleration in understanding of early human development. Recent advanced three-dimensional (3D) technology has produced exciting new applications of high-definition live (HDlive) silhouette and HDliveFlow imaging. By HDlive silhouette mode, an inner cystic structure with fluid collection can be depicted through the outer surface structure of the body and it can be appropriately named as see-through fashion’. Additionally, HDlive silhouette can depict hyperechoic structures, such as bones because skeletal system is demonstrated by ultrasound as conspicuously echogenic organs. HDliveFlow imaging adds more spatial resolution to conventional 3D ultrasound angiogram. HDliveFlow imaging demonstrates fine peripheral blood vessels, such as vascularity of the lung, brain and eyeballs. HDliveFlow combined with silhouette mode demonstrates the accurate location of vascularity inside organs. Simultaneous visualization of both structure and vascularity is quite comprehensive and may add further clinical information of vascularization. Thus, ‘see-through fashion’ imaging technology provides us comprehensive orientation and persuasive localization of inner morphological structure as well as of angiostructure inside the fetal organs. HDlive silhouette and flow imaging add further clinical significance to conventional three/four-dimensional (3D/4D) imaging in fields of sonoembryology and neurosonology, and may open up a new field of sono-ophthalmology. Owing to novel applications with clinical significance, fetal ultrasound is at present noninvasive, direct-viewing of the embryo/fetus, and all-inclusive technology, and is definitely the first modality of prenatal diagnosis with infinite potential. How to cite this article Pooh RK. Novel Application of HDlive Silhouette and HDliveFlow: Clinical Significance of the ‘Seethrough Fashion’ in Prenatal Diagnosis. Donald School J Ultrasound Obstet Gynecol 2016;10(1):90-98.

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Prenatal diagnosis of mosaic ring chromosome 15 with abnormal maternal serum Down syndrome screening and Dandy-Walker malformation

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2012.01.022 ◽

2012 ◽

Vol 51 (1) ◽

pp. 109-111 ◽

Cited By ~ 5

Author(s):

Shun-Jen Tan ◽

Chi-Huang Chen ◽

Chih-Ping Chen ◽

Chun-Wen Chen ◽

Cheng-Yu Chen ◽

...

Keyword(s):

Down Syndrome ◽

Prenatal Diagnosis ◽

Ring Chromosome ◽

Maternal Serum ◽

Chromosome 15 ◽

Dandy Walker Malformation ◽

Walker Malformation ◽

Down Syndrome Screening

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First trimester three-dimensional ultrasonographic diagnosis of diastrophic dysplasia: a case report and review of the literature

Case Reports in Perinatal Medicine ◽

10.1515/crpm-2013-0057 ◽

2014 ◽

Vol 3 (2) ◽

Author(s):

Ozgur Ozyuncu ◽

Mert Turgal ◽

Aslihan Yazicioglu

Keyword(s):

Genetic Disorder ◽

Three Dimensional ◽

Pregnant Patient ◽

First Trimester ◽

Nuchal Translucency ◽

3D Ultrasound ◽

Review Of The Literature ◽

Diastrophic Dysplasia ◽

First Trimester Scan ◽

Increased Nuchal Translucency

AbstractDiastrophic dysplasia is a rare genetic disorder characterized by short limbs and deformities of several joints occurring in conjunction with xyphoscoliosis, distinctive abduction of the first metacarpals (hitchhiker thumbs). A 28-year-old pregnant patient was referred due to detection of increased nuchal translucency at the first-trimester scan. We describe a case of diastrophic dysplasia diagnosed by two- and three-dimensional ultrasound and termination of pregnancy at 13 weeks of gestation. This case is the first report in the literature in which 3D ultrasound was used in diagnosis of diastrophic dysplasia as early as the 13th week of pregnancy. We think that prenatal diagnosis of diastrophic dysplasia can be possible even at first trimester.

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Prenatal Diagnosis of EEC Syndrome with “Lobster Claw” Anomaly by 3D Ultrasound

Journal of Clinical Imaging Science ◽

10.4103/2156-7514.99153 ◽

2012 ◽

Vol 2 ◽

pp. 40 ◽

Cited By ~ 5

Author(s):

Livia T. Rios ◽

Edward Araujo ◽

Ana C. R. Caetano ◽

Luciano M. Nardozza ◽

Antonio F. Moron ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Cleft Lip ◽

Three Dimensional ◽

3D Ultrasound ◽

Eec Syndrome ◽

Cleft Lip Palate ◽

The Right ◽

Hands And Feet ◽

Genetic Anomaly ◽

Better Than

The EEC syndrome is a genetic anomaly characterized by the triad: ectodermal dysplasia (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations) and cleft lip and/or palate; these malformations can be seen together or in isolation. The prenatal diagnosis can be made by two-dimensional ultrasonography (2DUS) that identifies the facial and/or limb anomalies, most characteristic being the “lobster-claw” hands. The three-dimensional ultrasonography (3DUS) provides a better analysis of the malformations than the 2DUS. A 25-year-old primigravida, had her first transvaginal ultrasonography that showed an unique fetus with crow-rump length of 47 mm with poorly defined hands and feet,. She was suspected of having sporadic form of EEC syndrome. The 2DUS performed at 19 weeks confirmed the EEC syndrome, showing a fetus with lobster-claw hands (absence of the 2nd and 3rd fingers), left foot with the absence of the 3rd toe and the right foot with syndactyly, and presence of cleft lip/palate. The 3DUS defined the anomalies much better than 2DUS including the lobster-claw hands.

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Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.

Medical Ultrasonography ◽

10.11152/mu.2013.2066.183.3du ◽

2016 ◽

Vol 18 (3) ◽

pp. 378 ◽

Cited By ~ 16

Author(s):

Talita Micheletti Helfer ◽

Alberto Borges Peixoto ◽

Gabriele Tonni ◽

Edward Araujo Júnior

Keyword(s):

Magnetic Resonance Imaging ◽

Computed Tomography ◽

Prenatal Diagnosis ◽

Magnetic Resonance ◽

Three Dimensional ◽

3D Ultrasound ◽

Resonance Imaging ◽

Perinatal Complications ◽

Wide Range ◽

Magnetic Resonance Imaging Mri

Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.

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Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15

Prenatal Diagnosis ◽

10.1002/pd.168 ◽

2001 ◽

Vol 21 (12) ◽

pp. 1031-1033 ◽

Cited By ~ 7

Author(s):

Yu-Hung Liu ◽

Shuenn Dyh Chang ◽

Fang-Ping Chen

Keyword(s):

Prenatal Diagnosis ◽

Ring Chromosome ◽

Chromosome 15

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OP06.07: Automated measurement of nuchal translucency by volume NTTM (3D ultrasound): improving quality of nuchal translucency measurements by two- and three-dimensional ultrasound

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.13692 ◽

2014 ◽

Vol 44 (S1) ◽

pp. 152-152

Author(s):

H. Lee ◽

J.H. Lee ◽

H. Cho ◽

Y. Kim ◽

Y. Park ◽

...

Keyword(s):

Three Dimensional ◽

Nuchal Translucency ◽

3D Ultrasound ◽

Automated Measurement

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Comparative studies of two dimensional and three dimensional ultrasonic nuchal translucency in trisomy assessments

Anais da Academia Brasileira de Ciências ◽

10.1590/s0001-37652012000400030 ◽

2012 ◽

Vol 84 (4) ◽

pp. 1157-1168 ◽

Cited By ~ 1

Author(s):

Lai K. Wee ◽

Hum Y. Chai ◽

Sharul R. Bin Samsury ◽

Naizaithull F. Binti Mujamil ◽

Eko Supriyanto

Keyword(s):

Descriptive Analysis ◽

Three Dimensional ◽

Nuchal Translucency ◽

3D Ultrasound ◽

Ultrasound Measurement ◽

Ultrasound Images ◽

Two Dimensional ◽

Significance Level ◽

Positive Linear Correlation ◽

2D And 3D

Current two-dimensional (2D) ultrasonic marker measurements are inherent with intra- and inter-observer variability limitations. The objective of this paper is to investigate the performance of conventional 2D ultrasonic marker measurements and proposed programmable interactive three-dimensional (3D) marker evaluation. This is essentially important to analyze that the measurement on 3D volumetric measurement possesses higher impact and reproducibility vis-à-vis 2D measurement. Twenty three cases of prenatal ultrasound examination were obtained from collaborating hospital after Ethical Committee's approval. The measured 2D ultrasonic marker is Nuchal Translucency or commonly abbreviated as NT. Descriptive analysis of both 2D and 3D ultrasound measurement were calculated. Three trial measurements were taken for each method. Both data were tested with One-Sample Kolmogorov-Smirnov Test and results indicate that markers measurements were distributed normally with significant parametric values at 0.621 and 0.596 respectively. Computed mean and standard deviation for both measurement methods are 1.4495 ± 0.46490 (2D) and 1.3561 ± 0.50994 (3D). ANOVA test shows that computerized 3D measurements were found to be insignificantly different from the mean of conventional 2D at the significance level of 0.05. With Pearson's correlation coefficient value or R = 0.861, the result proves strong positive linear correlation between 2D and 3D ultrasonic measurements. Reproducibility and accuracy of 3D ultrasound in NT measurement was significantly increased compared with 2D B-mode ultrasound prenatal assessment. 3D reconstructed imaging has higher clinical values compare to 2D ultrasound images with less diagnostics information.

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Typical changes of ethmocephaly and holoprosencephaly in a fetus at 14 weeks of gestation

Case Reports in Perinatal Medicine ◽

10.1515/crpm-2018-0042 ◽

2019 ◽

Vol 8 (2) ◽

Author(s):

Reinhard Altmann ◽

Christina Allerstorfer ◽

Iris Scharnreitner ◽

Wolfgang Arzt

Keyword(s):

Case Report ◽

Stem Elongation ◽

Three Dimensional ◽

First Trimester ◽

Nuchal Translucency ◽

3D Ultrasound ◽

Normal Brain ◽

Fetal Head ◽

The Face ◽

Metopic Suture

Abstract Background This case report is to show the details of the face of a very rare ethmocephaly at 14 weeks of gestation. Case presentation After the regular transabdominal two-dimensional (2D) scan for nuchal translucency we could describe the following malformations: holoprosencephaly, proboscis and an abnormal face, omphalocele containing bowel, hyperechoic kidneys and megacystis. In addition, we acquired transvaginal three-dimensional (3D) ultrasound volume blocks of the fetal head, scanned with different insonation angles and stored them for later analysis. Using the multiplanar mode the volume blocks taken from the front show all details of the face: proboscis, hypotelorism, microphthalmia, cleft palate, accelerated development of the frontal bones and premature closure of the metopic suture. The volume blocks taken through the squamosal suture show all details of the fossa posterior and brain: fused thalami surrounded by the typical monoventricle, normal brain stem, elongation of anterior membranous area. Render mode shows a precise 3D image of the face. To better demonstrate the changes of the fetal face a post-mortem photo of the fetal face is included. Conclusion This case report can demonstarte the typical changes of ethmocephaly in the first trimester using transvaginal 3D scan.

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