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

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.

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

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.

scholarly journals EARLY FETAL HYDROPIC CHANGES ARE ASSOCIATED WITH MODERATE DILATATION OF THE BRAIN VENTRICULAR SYSTEM: A CLUE TO A POSSIBLE LINK BETWEEN CERVICAL LYMPHATIC ENGORGEMENT AND VENTRICULAR DILATATION?

Lymphology ◽  
2019 ◽  
Vol 52 (1) ◽  
Author(s):  
D Paladini ◽  
G Donarini ◽  
A Conti ◽  
L Costanza De Angelis ◽  
MH Witte ◽  
...  
Keyword(s):  
Three Dimensional ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Ventricular System ◽  
Fetal Head ◽  
Biparietal Diameter ◽  
Inter Observer Variability ◽  
Trimester Screening ◽  
The One

The aim of this study is to assess whether early cervical lymphatic obstruction is associated with a sonographically detectable dilatation of the ventricular system in the 1st trimester of pregnancy. In particular, the objective is to assess whether fetuses with non-immune hydrops fetalis (NIHF), cystic hygroma, or enlarged nuchal translucency (NT) have a greater atrial width/biparietal diameter (AW/BPD) ratio than normal at time of the combined first trimester screening scan. This retrospective study included 96 first trimester fetuses (33 normal and 63 with various degree of cervical lymphatic engorgement). Inclusion criteria were CRL in the 45-84 mm range and availability of one or more three-dimensional volume datasets of the fetal head, acquired from the BPD plane. Each three-dimensional volume dataset was opened and multiplanar correlation employed to align the three orthogonal planes. The ratio between the atrial width and the BPD (AW/BPD ratio) was used to evaluate the possible presence of increased amount of cerebrospinal fluid. Abnormal cases were placed into 4 categories: 1)enlarged non-septated NT 2.5-3.9 mm, no hydrops; 2) grossly enlarged non-septated NT/ edema >3.9 mm; 3) cystic hygroma and/or NIHF; 4) major anomalies with NT <2.5 mm. Presence of dilatation of the latero-cervical jugular lymphatic sacs, karyotype and presence of congenital anomalies were also recorded. The One-way ANOVA test was used to compare means. Intra- and inter-observer variability were also assessed. The AW/BPD ratio was found to be significantly higher in fetuses with grossly enlarged NT/nuchal edema and NIHF/septated cystic hygroma than in normal (p <0.05 and p <0.01, respectively). Also, the AW/BPD ratio was significantly higher in NIHF/septated cystic hygroma than in enlarged NT 2.5-3.9 mm (p <0.05). In case of enlarged NT (2.5-3.9 mm), the AW/BPD ratio is significantly higher in presence of JLS (p <0.01). At the end of the first trimester, presence of cervical lymphatic engorgement, in terms of grossly enlarged NT, nuchaledema, septated cystic hygroma, and NIHF, is statistically associated with a moderate dilatation of the ventricular system. Of note, among fetuses with moderately enlarged NT, those with evidence of dilatation of the JLS show a statistically significant increase in the AW/BPD ratio.

Three-dimensional ultrasound first trimester fetal volume measurement and its relation to pregnancy outcome

2017 ◽  
Vol 45 (9) ◽  
Author(s):  
Haitham A. Torky ◽  
Asem A. Moussa ◽  
Ali M. Ahmad ◽  
Osama Dief ◽  
Manar A. Eldesoouky ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Pregnancy Outcome ◽  
Gestational Age ◽  
Preterm Labor ◽  
Three Dimensional ◽  
First Trimester ◽  
3D Ultrasound ◽  
Secondary Outcome ◽  
Crown Rump Length

AbstractAim of work:To determine whether fetal volume (FV) measured by three-dimensional (3D) ultrasound was able to detect fetuses at risk of low birth weight (primary outcome) and/or preterm labor (secondary outcome).Methods:One hundred pregnant women carrying a singleton living pregnancy who were sure of dates, and had a dating scan, with gestational age between 11 weeks and 13 weeks+6 days coming for routine first trimester nuchal translucency (NT) were examined by both two-dimensional (2D) and 3D ultrasound (Vocal System) for crown-rump length (CRL) and FV then followed up regularly every 4 weeks until 28 weeks then biweekly until 36 weeks then weekly until delivery both clinically and by ultrasound biometry.Findings:Eighty-seven cases had a normal outcome, while the remaining 13 cases had either preterm labor (four cases) or low-birth weight (nine cases). FV positively correlated with CRL (P=0.026), gestational age in weeks (P=0.002), neonatal body weight in grams (P=0.018) and neonatal body length at birth (P=0.04). A mean FV of 8.3 mmConclusion:3D assessment of FV in the first trimester provides an accurate method for predicting pregnancy outcome namely low birth weight and neonatal complications, however, it is a better positive predictor than a negative one.

scholarly journals Intracranial Translucency, Its Use as a Potential First Trimester Ultrasound Marker for Screening of Neural Tube Defects

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 986
Author(s):  
Gerardo Sepúlveda-González ◽  
Tayde Arroyo-Lemarroy ◽  
David Basurto ◽  
Ivan Davila ◽  
Esteban Lizárraga-Cepeda ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Nasal Bone ◽  
Case Series ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Head ◽  
Intracranial Translucency ◽  
Spina Bifida Aperta ◽  
First Trimester Ultrasound

The objective of the study was to describe a case-series of neural tube defects (NTD) with an abnormal intracranial translucency (IT) detected during the first-trimester ultrasound scan, performed on a low-risk obstetric population in Mexico. Certified Fetal Medicine specialists performed all US scans; the IT was assessed using the mid-sagittal view of the fetal head, which is already systematically used for nuchal translucency and nasal bone evaluation. During the study, we were able to find that eight fetuses had an absence of the intracranial translucency, out of which two were reassessed at 14 weeks′ gestation and IT was normal, six of them were later diagnosed to have an NTD that consisted in spina bifida aperta (n = 5) and encephalocele (n = 1). Conclusion: As previous studies have shown, IT evaluation during the first-trimester US routine scan may be a useful screening marker for early detection of NTDs.

Diagnosis of cleft lip-palate during nuchal translucency screening – case report and review of the literature

2012 ◽  
Vol 1 (1-2) ◽  
Author(s):  
Ashwin R. Jadhav ◽  
Ana Monteagudo ◽  
Rosalba Santos ◽  
Ilan Timor
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
First Trimester ◽  
Nuchal Translucency ◽  
3D Ultrasound ◽  
Ultrasound Screening ◽  
Aneuploidy Screening ◽  
Detection Rates ◽  
Cleft Lip Palate

AbstractOrofacial clefts are the most common group of craniofacial anomalies. The detection rate of cleft lip during the mid-trimester, using two-dimensional (2D) ultrasound screening, has improved over the last three decades. However, the detection rates of defects involving the hard palate or isolated cleft palate have remained poor. Over the last decade, many investigators have studied the use of 3D ultrasound to improve the detection rates of these defects. With the increasing use and acceptance of first-trimester aneuploidy screening in the US, there is growing interest in performing first-trimester fetal anatomy surveys. Reports of first-trimester diagnosis of cleft lip and palate are rare, and this aspect of prenatal sonographic diagnosis remains underexplored. We report a case of unilateral cleft lip and cleft palate diagnosed during a routine first-trimester screening at 12 weeks’ gestation and review the pertinent literature on first-trimester diagnosis of cleft lip/palate.

P50.15: First trimester diagnosis of sirenomelia by real-time three-dimensional ultrasound: a case report

2007 ◽  
Vol 30 (4) ◽  
pp. 647-647 ◽  
Author(s):  
C. Batukan ◽  
M. T. Ozgun ◽  
M. Basbug ◽  
G. Oner ◽  
H. Akgun
Keyword(s):  
Case Report ◽  
Real Time ◽  
Three Dimensional ◽  
First Trimester
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