Pena-Shokeir syndrome was first described by Pena and Shokeir in 1974 after observing camptodactily, multiple ankyloses, facial anomalies and lung hypoplasia in 2 siblings. It is a lethal autosomal recessive disorder with an estimated prevalence of 1 in 12, 000 births. About 30% of affected fetuses are stillborn while the others die shortly after birth due to complications associated with lung hypoplasia.Our patient was a 31 y.o. G1 women who was referred to our tertiary care center at 20 weeks gestation for the investigation of suspected fetal malformations and hydrops. Her personal and familial history was not contributory.Upon ultrasound evaluation, multiple anomalies were detected: bilateral choroid plexus cysts, bilateral cleft lip, abnormal facial features, bilateral club feet and deviated hand position. Severe hydrops fetalis and the absence of fetal movement were also noted. The growth parameters were normal except for a cranial perimeter inferior to the 3rd percentile.After being presented with these findings, the couple declined the amniocentesis and did not request medical termination of pregnancy. Amniocentesis was performed after confirmation of the anomalies and hydrops at 22 weeks. The caryotype was found to be normal and the infectious disease workup was negative. At 26 weeks, an ultrasound showed no fetal cardiac activity. Labour was induced and the patient delivered a 425 grams male fetus.At autopsy, the fetus presented arthrogryposis of the ankles, knees, elbows and left wrist. Facial dysmorphism consisting of bilateral naso-labial cleft, hypertelorism, and retrognatism was described along with a posterior cleft set in a high arched palate. Severe pulmorary hypoplasia and hydrops fetalis were also noted. The placenta was normal.Supporting information can be found in the online version of this abstract VACTERL is an acronym for a nonrandom malformation sequence including V (vertebral anomalies), A (anal atresia), C (cardiac anomalies), TE (tracheoesophageal fistula or esophageal atresia), R (renal anomalies) and L (limb defects). Diagnosis of the condition requires the presence of at least three of the seven cardinal anomalies. The most frequent defects are the tracheoesophageal fistula and anal or vertebral anomalies. Although VACTERL occurs sporadically, it is more often observed in pregnancies complicated by diabetes. Prenatal ultrasound diagnosis is challenging.We report a case of prenatally suspected VACTERL association in the second trimester. A 35-year-old gravida 1 with dichorionic twin pregnancy (after insemination) was referred at 20 weeks of gestation. While the first twin appeared to be normal, the 2D scan of the second twin revealed an overriding aorta, unilateral renal agenesis and single umbilical artery. In addition, 3D ultrasound of the fetal spine with maximum render mode identified the presence of hemivertebra at L5. Thus, discordant VACTERL association was suspected. Premature rupture of membranes and breech presentation of the first twin necessitated a Caesarean section at ...
A 26-year-old woman underwent a prenatal diagnosis ultrasonography at 11 weeks of gestation. The fetus had a crown-rump length of 54mm, with normal nuchal translucency (0,94 mm). Multiple fetal abnormalities were seen, included a large abdominal defect with evisceration of liver and bowel. The bladder was not visualized and there was a single umbilical artery. The parents denied amniocentesis procedure, and the patient decided to search a second opinion in another prenatal diagnosis unit. After the delivery, cloacal exstrophy was confirmed.The following findings are described for prenatal diagnosis of cloacal exstrophy: Absent bladder (vesical exstrophy), lower abdominal wall defect with genitourinary anomalies and distal ileum prolapsed. Also we can see the protrusion of the ileum seems like a trunk of elephant, the so called ''elephant trunk sign'', but this can be seen on the second trimester. However, the images of this anomaly in the first trimetre, are very rare.We show the images that we could see on the first echography.Supporting information can be found in the online version of this abstract Methods:In an attempt to characterize portal system and shunt developmental variations and their possible impact on outcome, the diameter of the shunt was compared with the diameter of the umbilical vein and the entire portal vasculature was assessed.Absence of the normal intrahepatic umbilical vein and ductus venosus has been described in cases with extrahepatic insertion of the umbilical vein. In these prenatally and postnatally diagnosed cases, the umbilical vein was described to enter into the right atrium, the inferior vena cava or the iliac vein. The majority of these cases were associated with other anomalies. Results: A 24-year-old primagravida woman was referred for a rutin first trimester scan at 13 weeks of gestation. Biometry in standard planes showed appropriate fetal growth. Biometry in standard planes showed appropriate fetal growth. The anatomical survey of the fetus and sequential segmental analysis of heart performed. A ductus venosus could not be demonstrated during venous blood flow studies. Dilated umbilical vein-3,3 mm bypassing the liver and connecting directly to the right atrium. Stenosis of A.pulmonalis and the initial expansion of the urinary bladder to sense megaciste were detected. Subsequent chorionic villus sampling showed a normal 46 XX karyotype and then a pregnancy was aborted. If the shunt is narrow, the portal system will have developed normally. A wide shunt is associated with underdevelopment or absence of the portal system. In cases of ADV with extrahepatic shunt, prognosis is determined by the severity of associated anomalies, the diameter of the shunt and development of the portal system. Conclusions: This report suggests that the detection of the DV agenesis in the first trimester is possible.We suggest that fetuses with absent ductus venosus warrant a careful search for associated anomalies. Fetal karyotyping should be offered and serial examinations are recommended.In ca...
Electronic poster abstractswith distrophic calcification. Ovarian intracystic bleeding raises the suspicion of adnexal torsion though it may occur spontaneously without torsion -as in this case. Some reports advocate conservative treatment for fetal complex ovarian cysts; however it may not be completely safe to leave a gangrenous ovary within the abdomen because of the actual risk of adhesion of the necrotic tissue to the bowel with resultant occlusion or perforation and of a possible misdiagnosis (teratomas, etc Prenatal sonographic diagnosis of fetal obstructive uropathy is relatively common. However, the complication of spontaneous rupture of the urinary tract in utero causing fetal urinary ascites is extremely rare. Case report. A 33-year-old patient, gravid 2 para1, comes to the realization of the morphological ultrasound in the second trimester of gestation. We identify a single fetus with biometry that corresponds to the gestational age and massive hydronephrosis of the left kidney with pielocaliciar system significantly dilated. It was not possible to identify the right kidney, not finding left ureteral dilatation and being the bladder normal. The only additional finding was a single umbilical artery. Before these findings, we perform a genetic amniocentesis being its result normal (46, XX). In a subsequent exploration carried out at 26 weeks of gestation there is a severe fetal ascites, without criteria of hydrops. We complete the exploration by means of indirect Coombs test, maternal serology, middle cerebral artery Doppler and MR imaging, making the diagnosis of urinary ascites in connection with possible rupture of urinary excretory system. Since the amount of amniotic fluid is normal, we decided to prolong the pregnancy with regular ultrasound controls, getting to reach 36 weeks, time that we end the gestation by elective caesarean section before the increase of ascites and the appearance of a severe oligohydramnios. After the birth, was performed a nephrostomy of discharge to the newborn, which has maintained a good renal function until definitive surgery. Discussion. Although it was thought that urinary tract perforation seems to reduce pressure in the urinary system and thus prevent permanent damage to renal parenchyma, it is possible to occur too late to have such effect. Non-intervention may be appropriate if amniotic fluid is normal and normal parenchyma can be visualized by ultrasound at least in one kidney. The Lethal Multiple Pterygium Syndrome is characterised by hydropsy accompanied by severe and early cystic hygroma and joint contractures. The incidence is rare and unknown and its etiology is autosomal recessive, in some cases suggesting transmission connected to X.Patient Q.S.T, 22 years, primigravida. Cystic hygroma (figure 1), scoliosis, non visualisation of fetal stomach, flexion contracture of multiple joints -legs and arms (figure 2) and lack of fetal movements were detected by ultrasound (Medison Sonoace X8, Korea) in the first examination in our clinic, at 22 weeks. In the face ...
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