Velamentous insertion of the umbilical cord corresponds to the insertion of the cord directly on amniotic membranes. It is a rare situation whose frequency varies from 0.5% to 1.69% of single pregnancies. It must be d...Velamentous insertion of the umbilical cord corresponds to the insertion of the cord directly on amniotic membranes. It is a rare situation whose frequency varies from 0.5% to 1.69% of single pregnancies. It must be diagnosed during the morphological ultrasound of the 2nd trimester, actively looking for the association with a vasa previa, due to the risk of fetal haemorrhagic threat. We report an antenatal diagnosis of velamentous cord insertion and its management with literature review.展开更多
The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephalus, incomplete cerebellar vermis and a po...The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. We present a case of Dandy-Walker syndrome diagnosed antenatally. The assoiacted anomalies are reviewed, and the value of antenatal diagnosis is discussed.展开更多
Amniotic band syndrome is an acquired embryo-fetopathy. It is rare and is characterized by malformations mainly affecting the limbs but also the skull, face and thoraco-abdominal axis. Its etiopathogenesis remains poo...Amniotic band syndrome is an acquired embryo-fetopathy. It is rare and is characterized by malformations mainly affecting the limbs but also the skull, face and thoraco-abdominal axis. Its etiopathogenesis remains poorly understood. Its diagnosis is essentially clinical and is classically based on the existence of signs such as furrows, amputations and pseudosyndactyly. To show the importance of antenatal diagnosis in resource-limited countries, we report the case of two newborns, one premature at 31 weeks and the other at term, in whom amniotic band syndrome was discovered incidentally at birth. It involved an amputation of the right leg for both cases. The premature baby was born in a context of neonatal sepsis and will succumb to the latter while the 2nd case was released from the hospital alive. Imaging examinations to search for probable congenital malformations could only be carried out for the 2nd case and no accessible congenital malformation had been identified. And as management of the disease, only psychological support to the parents was provided for the 2 cases. The antenatal discovery of a case of amniotic band syndrome in countries with low technical capacity such as Burundi should push clinicians to think in time about treatment options.展开更多
Osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed ...Osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed through genetic studies. We present a case of osteogenesis imperfecta suspected during obstetrical ultrasound at 19 weeks’ gestation, which was later confirmed radiographically through computed tomography. Due to the severity of the condition, therapeutic termination of pregnancy was indicated.展开更多
Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its pre...Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT.展开更多
Purpose:To summarize our experience in the management of congenital anomalies in the kidney and urinary tract(CAKUT)in adults.Materials and methods:We conducted a retrospective chart review of all adult patients who u...Purpose:To summarize our experience in the management of congenital anomalies in the kidney and urinary tract(CAKUT)in adults.Materials and methods:We conducted a retrospective chart review of all adult patients who underwent primary surgical intervention for CAKUT between 1998 and 2021.Results:The study included 102 patients with a median age of 25(interquartile range,23-36.5).Of these,85(83.3%)patients reported normal prenatal ultrasound,and the remaining 17(16.7%)patients were diagnosed with antenatal hydronephrosis.These patients were followed-up conservatively postnatally and were discharged from follow-up because of the absence of indications for surgical intervention or because they decided to leave medical care.All studied adult patients presented with the following pathologies:67 ureteropelvic junction obstructions,14 ectopic ureters,9 ureteroceles,and 6 primary obstructive megaureters,and the remaining 6 patients were diagnosed with vesicoureteral reflux.Forty-three percent of the patients had poorly functioning moieties associated with ectopic ureters or ureteroceles.Notably,67%of patients underwent pyeloplasty,9%underwent endoscopic puncture of ureterocele,3%underwent ureteral reimplantation,6%underwent endoscopic correction of reflux,7%underwent partial nephrectomy of non-functioning moiety,and the remaining 9%underwent robotic-assisted laparoscopic ureteroureterostomy.The median follow-up period after surgery was 33 months(interquartile range,12-54).Post-operative complications occurred in 5 patients(Clavien-Dindo 1-2).Conclusions:Patients with CAKUT present clinical symptoms later in life.Parents of patients diagnosed during fetal screening and treated conservatively should be aware of this possibility,and children should be appropriately counseled when they enter adolescence.Similar surgical skills and operative techniques used in the pediatric population may be applied to adults.展开更多
Background Congenital heart disease （CHD） is the most common congenital disorder at birth. Yagel and colleagues＇s method of heart examination has been proved valuable in finding CHD prenatally in single pregnancies...Background Congenital heart disease （CHD） is the most common congenital disorder at birth. Yagel and colleagues＇s method of heart examination has been proved valuable in finding CHD prenatally in single pregnancies. The aim of this study was to analyze the frequency of CHD in twin pregnancies and the sensitivity of the method. Methods A total of 1103 pregnant women with twins were enrolled in this study, including 127 cases with high-risk for CHD. Five transverse ultrasound measurements were used for fetal heart examination, including the upper abdomen view, four-chamber view, five-chamber view, pulmonary artery bifurcation view, and three-vessel view. In the fetuses who were diagnosed with CHD and whose parents requested termination of the pregnancy, autopsy of the fetal heart was performed after an abortion, and a blood sample was collected from the heart for chromosome evaluation. In the other fetuses, a close follow-up was conducted by echocardiography within one year after birth. Results Antenatally, CHD was found in 12 twins, of which 4 were from the high-risk group （3.15%）, and 8 from the low-risk group （0.82%）. In 2 pairs of the twins, the two fetuses had a same kind of CHD （one pair had tetralogy of Fallot （TOF）, another pair had rhabdomyoma）. Another pair had different types of anomaly （one fetus had TOF, and the other duodenal atresia with a normal heart）. Termination of pregnancy was performed in these three pairs and the autopsy of the fetal heart confirmed the ultrasound findings. In the other 9 pairs, CHD was detected in one fetus, and a normal heart in the others. In the cases who received chromosome evaluation, 2 had abnormal chromosomes. During the follow-up after birth, heart examinations confirmed the prenatal diagnosis in 7 of the 9. The diagnosis of CHD was missed antenatally in 2 pairs of twins. In both the cases, one fetus was normal, and the other was confirmed as having CHD after birth （small ventricle septum defect in one, and persistent open ductus arteriosus in the other）. Thus, the total frequency of CHD was 16 （7.3/1000）, which was similar to that in single pregnancies. The sensitivity of fetal echocardiography was 87.5% and the specificity was 100%. Conclusions The frequency of CHD is the same in twin as in single pregnancies. Systemic ultrasound scanning with five transverse views is effective in diagnosing fetal CHD in twin pregnancies.展开更多
文摘Velamentous insertion of the umbilical cord corresponds to the insertion of the cord directly on amniotic membranes. It is a rare situation whose frequency varies from 0.5% to 1.69% of single pregnancies. It must be diagnosed during the morphological ultrasound of the 2nd trimester, actively looking for the association with a vasa previa, due to the risk of fetal haemorrhagic threat. We report an antenatal diagnosis of velamentous cord insertion and its management with literature review.
文摘The Dandy-Walker syndrome (DWS) can be accurately diagnosed in utero by sonographic demonstration of characteristic morphologic changes of the fetus, which includes hydrocephalus, incomplete cerebellar vermis and a posterior fossa cyst. We present a case of Dandy-Walker syndrome diagnosed antenatally. The assoiacted anomalies are reviewed, and the value of antenatal diagnosis is discussed.
文摘Amniotic band syndrome is an acquired embryo-fetopathy. It is rare and is characterized by malformations mainly affecting the limbs but also the skull, face and thoraco-abdominal axis. Its etiopathogenesis remains poorly understood. Its diagnosis is essentially clinical and is classically based on the existence of signs such as furrows, amputations and pseudosyndactyly. To show the importance of antenatal diagnosis in resource-limited countries, we report the case of two newborns, one premature at 31 weeks and the other at term, in whom amniotic band syndrome was discovered incidentally at birth. It involved an amputation of the right leg for both cases. The premature baby was born in a context of neonatal sepsis and will succumb to the latter while the 2nd case was released from the hospital alive. Imaging examinations to search for probable congenital malformations could only be carried out for the 2nd case and no accessible congenital malformation had been identified. And as management of the disease, only psychological support to the parents was provided for the 2 cases. The antenatal discovery of a case of amniotic band syndrome in countries with low technical capacity such as Burundi should push clinicians to think in time about treatment options.
文摘Osteogenesis imperfecta is a hereditary disease characterized by bone fragility due to a defect in type I collagen synthesis. The diagnosis is typically suspected based on suggestive ultrasound findings and confirmed through genetic studies. We present a case of osteogenesis imperfecta suspected during obstetrical ultrasound at 19 weeks’ gestation, which was later confirmed radiographically through computed tomography. Due to the severity of the condition, therapeutic termination of pregnancy was indicated.
文摘Congenital abnormalities of the kidneys and urinary tract (CAKUT) represent all the morphological abnormalities associated with a disorder of the embryonic development of the kidneys and their excretory tract. Its prevalence is underestimated in developing countries compared to developed countries. This was a cross-sectional and descriptive study between January 1st, 2015 and February 28th, 2020, carried out in the pediatric department of Aristide Le Dantec Hospital. The prevalence of CAKUT was 8.77% for all pediatric nephrologic pathologies (n = 58), the median age at diagnosis was 77.28 months and the sex ratio was 1.6. The circumstances of the discovery of CAKUT were dominated by urinary tract infection (n = 21), the antenatal diagnosis was poor (n = 13) and confusion between cysts and calyx dilation in antenatal was noted. Ultrasound was the main postnatal imaging test requested. The most common renal abnormality was kidney cysts (n = 18) (cystic kidneys and multicystic dysplastic kidney) and the most common urological abnormality was the posterior urethral valves (n = 8). Kidney failure was a pejorative factor in the evolution of these CAKUT.
文摘Purpose:To summarize our experience in the management of congenital anomalies in the kidney and urinary tract(CAKUT)in adults.Materials and methods:We conducted a retrospective chart review of all adult patients who underwent primary surgical intervention for CAKUT between 1998 and 2021.Results:The study included 102 patients with a median age of 25(interquartile range,23-36.5).Of these,85(83.3%)patients reported normal prenatal ultrasound,and the remaining 17(16.7%)patients were diagnosed with antenatal hydronephrosis.These patients were followed-up conservatively postnatally and were discharged from follow-up because of the absence of indications for surgical intervention or because they decided to leave medical care.All studied adult patients presented with the following pathologies:67 ureteropelvic junction obstructions,14 ectopic ureters,9 ureteroceles,and 6 primary obstructive megaureters,and the remaining 6 patients were diagnosed with vesicoureteral reflux.Forty-three percent of the patients had poorly functioning moieties associated with ectopic ureters or ureteroceles.Notably,67%of patients underwent pyeloplasty,9%underwent endoscopic puncture of ureterocele,3%underwent ureteral reimplantation,6%underwent endoscopic correction of reflux,7%underwent partial nephrectomy of non-functioning moiety,and the remaining 9%underwent robotic-assisted laparoscopic ureteroureterostomy.The median follow-up period after surgery was 33 months(interquartile range,12-54).Post-operative complications occurred in 5 patients(Clavien-Dindo 1-2).Conclusions:Patients with CAKUT present clinical symptoms later in life.Parents of patients diagnosed during fetal screening and treated conservatively should be aware of this possibility,and children should be appropriately counseled when they enter adolescence.Similar surgical skills and operative techniques used in the pediatric population may be applied to adults.
基金This study was supported by a grant from the Bureau of Science and Technology of Liaoning Province(No.200522500801)
文摘Background Congenital heart disease （CHD） is the most common congenital disorder at birth. Yagel and colleagues＇s method of heart examination has been proved valuable in finding CHD prenatally in single pregnancies. The aim of this study was to analyze the frequency of CHD in twin pregnancies and the sensitivity of the method. Methods A total of 1103 pregnant women with twins were enrolled in this study, including 127 cases with high-risk for CHD. Five transverse ultrasound measurements were used for fetal heart examination, including the upper abdomen view, four-chamber view, five-chamber view, pulmonary artery bifurcation view, and three-vessel view. In the fetuses who were diagnosed with CHD and whose parents requested termination of the pregnancy, autopsy of the fetal heart was performed after an abortion, and a blood sample was collected from the heart for chromosome evaluation. In the other fetuses, a close follow-up was conducted by echocardiography within one year after birth. Results Antenatally, CHD was found in 12 twins, of which 4 were from the high-risk group （3.15%）, and 8 from the low-risk group （0.82%）. In 2 pairs of the twins, the two fetuses had a same kind of CHD （one pair had tetralogy of Fallot （TOF）, another pair had rhabdomyoma）. Another pair had different types of anomaly （one fetus had TOF, and the other duodenal atresia with a normal heart）. Termination of pregnancy was performed in these three pairs and the autopsy of the fetal heart confirmed the ultrasound findings. In the other 9 pairs, CHD was detected in one fetus, and a normal heart in the others. In the cases who received chromosome evaluation, 2 had abnormal chromosomes. During the follow-up after birth, heart examinations confirmed the prenatal diagnosis in 7 of the 9. The diagnosis of CHD was missed antenatally in 2 pairs of twins. In both the cases, one fetus was normal, and the other was confirmed as having CHD after birth （small ventricle septum defect in one, and persistent open ductus arteriosus in the other）. Thus, the total frequency of CHD was 16 （7.3/1000）, which was similar to that in single pregnancies. The sensitivity of fetal echocardiography was 87.5% and the specificity was 100%. Conclusions The frequency of CHD is the same in twin as in single pregnancies. Systemic ultrasound scanning with five transverse views is effective in diagnosing fetal CHD in twin pregnancies.
