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 ◽  
...  

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.

2019 ◽  
Vol 8 (2) ◽  
Author(s):  
Reinhard Altmann ◽  
Christina Allerstorfer ◽  
Iris Scharnreitner ◽  
Wolfgang Arzt

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.


2006 ◽  
Vol 26 (4) ◽  
pp. 369-372 ◽  
Author(s):  
Richard Kharrat ◽  
Masami Yamamoto ◽  
Joelle Roume ◽  
Sophie Couderc ◽  
Francois Vialard ◽  
...  

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Bartosz Czuba ◽  
Wojciech Cnota ◽  
Agata Wloch ◽  
Piotr Wegrzyn ◽  
Krzysztof Sodowski ◽  
...  

Objective. The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement.Material and Methods. The study involved 1751 singleton pregnancies at 11–13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, and FMF angle were measured in all patients. 1350 fetuses with known follow-up were included in the final analysis.Results. Highly significant (P<0.01) negative correlation between the CRL and the FMF angle was found. There were 30 fetuses with trisomy 18. FMF angle was highly significantly larger (P<0.0001) in fetuses with trisomy 18 as compared to chromosomally normal fetuses. Two models of first trimester screening were compared: Model 1 based on maternal age, NT, and first trimester biochemistry test (DR 80–85% and FPR 0.3–0.6%), and Model 2 = Model 1 + FMF angle measurement (DR 87.3–93.3% and FPR 0.8–1.3%).Conclusions. The use of FMF angle measurement increases the effectiveness of the screening for trisomy 18. Introduction of the FMF angle as an independent marker for fetal trisomy 18 risk requires further prospective research in large populations.


Author(s):  
N.A. Venchikova, À.À. Ershova-Pavlova, I.V. Novikova et all

As part of the population-based prenatal screening of 900 pregnant women, who underwent 1st trimester screening at the RPMC “Mother and Child” in 2018–2019, an ultrasound scan of the fetal palate was performed to evaluate the effectiveness of new ultrasound markers in detecting orofacial clefts (OFC). Fetal palatal defects were screened at a 2D assessment of bone markers of the palate – the image of the palatal line in the sagittal section, the retronasal triangle in the coronary section, the alveolar arch of the upper jaw in the axial section. If a palate abnormality was detected or suspected in the 2D study, the fetal palate was evaluated using the 3D mode. In 50 pregnant women of the control group, 3D sonography of the fetal palate was performed in the norm. In total, during the gestation period of 10+5–12+5 weeks, 10 cases of OFC were detected, of which 1 case was a median lip/palate cleft (LPC), 6 — bilateral LPC, 1 — left-sided LPC, 1 — unspecified LPC, 1 — PC. Visualization of 2D ultrasound markers was possible in 9 cases of palate anomalies, 3D assessment worked out in all 10 cases. In all identified OFC cases, cytogenetic and/or pathomorphological studies were performed.


2011 ◽  
Vol 204 (1) ◽  
pp. S168
Author(s):  
Jessica Scholl ◽  
Chitra Iyer ◽  
Asha Heard ◽  
Jaclyn Coletta ◽  
Britta Panda ◽  
...  

2014 ◽  
Vol 3 (2) ◽  
Author(s):  
Ozgur Ozyuncu ◽  
Mert Turgal ◽  
Aslihan Yazicioglu

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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