Prenatal ultrasound diagnosis of Seckel syndrome with bi‐allelic variant in TRAIP via exome sequencing

Author(s):  
Daragh Conrad ◽  
Christy Stanley ◽  
Jeffrey Denney ◽  
Kristen Quinn
Author(s):  
V.V. Ezhova

The case of prenatal ultrasound diagnosis of pilonidal cyst at 25 weeks of gestation is presented. The diagnosis was confirmed after birth.


Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.


Author(s):  
I.N. Daminov , S.F. Nasirova

The case of prenatal ultrasound diagnosis of fetal superior occipital encephalocele at 19 weeks of gestation is presented. The pregnancy was terminated at 20 weeks of gestation. An external examination of the abortus confirmed the prenatal ultrasound diagnosis.


Author(s):  
D.V. Doroshenko

The prenatal ultrasound diagnosis of large multilocular interhemispheric arachnoid cyst at 34 weeks of gestation is presented. No other anomalies were noticed. Patient was scheduled for the cesarean section. An infant was undergone the surgery with fenestration of the cyst three months later. In this case, arachnoid cyst had an excellent outcome and was not associated with neurological or cognitive impairment.


Author(s):  
M.V. Medvedev, M.V. Kubrina

Main prenatal ultrasound differential patterns of congenital heart diseases including interventricular septal defect and dextroposed aorta are presented.


Author(s):  
M Medvedev, M.V. Kubrina, O.S. Zarubina et all

Two cases of prenatal ultrasound diagnosis of left atrial isomerism in the second trimester of gestation is presented. These two cases were in combination with pulmonary atresia and right aortic arch. Left atrial isomerism was identify by the digit-like shape of the left and right atrial appendages. The pulmonary atresia was identified on the basis of reverse flow in small pulmonary artery. A right aortic was identified by “U”-shaped confluence of aorta and ductus arteriosus in view of three vessels and trachea. The trachea was located between the vessels. The pregnancies were terminated and prenatal diagnosis was conformed at autopsy


Author(s):  
À.Å. Volkov

Аn analysis of the ultrasound diagnosis of extrachorial type of placentation (EPT): placenta circumvallata and placenta placenta marginata is presented. The frequency of prenatal ultrasound detection of EPT was 0.77 % (319/41 626). In the postanatal period EPT was noted in 3.14 %. Issues of ultrasound imaging and low detection of EPT during pregnancy were discussed.


Author(s):  
I.N. Daminov

A case of prenatal ultrasound diagnosis of fibular hemimelia, type I associated with oligodactyly of the foot at 22 weeks of gestation is presented. Ultrasound examination at 22 weeks of gestation revealed hypoplasia of the left fibula and the foot oligodactyly. After prenatal counseling, the patient opted for termination of pregnancy. During external examination of the abortus asymmetry of the lower extremities due to shortening of the left lower leg and oligodactyly of the left foot were noted, those confirmed prenatal ultrasound data.


2003 ◽  
Vol 19 (3) ◽  
pp. 188-191
Author(s):  
Pam Switalski ◽  
Michelle Cozzo ◽  
Carolyn Hartfield

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