Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound

10.1002/pd.67 ◽  
2001 ◽  
Vol 21 (5) ◽  
pp. 390-394 ◽  
Author(s):  
Andrew D. Hull ◽  
Gina James ◽  
Dolores H. Pretorius
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.


2013 ◽  
Vol 208 (1) ◽  
pp. S156
Author(s):  
Adeeb Khalifeh ◽  
Fergal Malone ◽  
Antonella Lavelanet ◽  
Dimitri Chamchad ◽  
Andrew Gerson

2012 ◽  
Vol 39 (2) ◽  
pp. 175-180 ◽  
Author(s):  
H. Y. Cho ◽  
J.-Y. Kwon ◽  
Y. H. Kim ◽  
K. H. Lee ◽  
J. Kim ◽  
...  

2001 ◽  
Vol 18 (5) ◽  
pp. 475-480 ◽  
Author(s):  
G. Clementschitsch ◽  
G. Hasenöhrl ◽  
H. Schaffer ◽  
H. Steiner

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.


2020 ◽  
Vol 48 (2) ◽  
pp. 102-114 ◽  
Author(s):  
Tuangsit Wataganara ◽  
Piengbulan Yapan ◽  
Sakita Moungmaithong ◽  
Nalat Sompagdee ◽  
Nisarat Phithakwatchara ◽  
...  

AbstractThree-dimensional ultrasound (3DUS) may provide additional information for prenatal assessment of twins. It may improve the diagnostic confidence of dating, nuchal translucency (NT) and chorionicity assignment in twin pregnancies. The “virtual 3DUS placentoscopy” can guide selective fetoscopic laser photocoagulation (SFLP) to treat twin-twin transfusion syndrome (TTTS). Volumetric assessment of the dysmorphic acardiac twin with the Virtual Organ Computer-aided Analysis (VOCAL) software is more accurate than the conventional ultrasound measurement. Twin anemia polycythemia (TAP) sequence and selective intrauterine growth restriction (sIUGR) may be clinically monitored with 3DUS placental volume (PV) and power Doppler vascular indices. Congenital anomalies are more common in twins. Evaluation of fetal anomalies with 3DUS could assist perinatal management. The 3DUS power Doppler can provide a better understanding of true and false umbilical cord knots, which are commonly found in monoamniotic (MA) twins. Single demise in monochorionic (MC) twin pregnancies can cause severe neurologic morbidity in the surviving co-twin. Prenatal prediction of brain injury in the surviving co-twin with unremarkable neurosonographic examination is difficult. The 3DUS power Doppler may aid in prenatal detection of subtle abnormal cerebral perfusion. Prenatal assessment of conjoined twins with 3DUS is important if emergency postnatal surgical separation is anticipated. There is no significant additional advantage in using real-time 3DUS to guide prenatal interventions. Assessment of the cervix and pelvic floor during twin pregnancies is enhanced with 3DUS. Due to lack of high-quality studies, routine prenatal 3DUS in twin pregnancies needs to be balanced with risks of excessive ultrasound exposure.


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