A Case of Spina Bifida Diagnosed by Prenatal Ultrasonography / 대한산부인과학회잡지

In prenatal diagnosis of neural tube defects, maternal serum alpha-fetoprotein (MSAFP) level in second trimester is used as a screening test. However, it shows low sensitivity with high false positive rate. Also, alpha-fetoprotein and acetylcholinesterase in amniotic fluid through amniocentesis is used, but it is an invasive technique with low sensitivity. Recently, due to improved prenatal sonography, typical sonographic findings of spina bifina are reported and contributed to early diagnosis and detection of possible co-existing abnormalities. We report a case of spina bifida detected at 21 weeks of pregnancy by prenatal sonograph at our institution with a brief review of literature.

Clinical Manifestations of Ureteral Duplication in Children

PURPOSE: Ureteral duplication is a common urologic anomaly and early diagnosis may prevent irreversible renal damage. We thus aimed to evaluate the benefits of prenatal sonography in early detection. METHODS: We retrospectively studied 55 children with duplicated systems who were admitted to Severance Hospital, Yonsei University, Seoul, Korea from January 1998 to July 2003. RESULTS: The mean age at diagnosis was 2.3 years old. 89% of the children had complete duplicated ureter. 47% of the children visited the hospital with an initial complaint of abnormal prenatal sonographic findings. Among these patients, 70.8% had DMSA defects. The mean differential renal function(DRF) in the DMSA scan was 48.2% in the group diagnosed prenatally. In the postnatally-diagnosed group, DMSA defects were found in 67.7% patients and the mean DRF was 45.5%. CONCLUSION: In comparison with the past studies, the mean age at diagnosis is becoming younger, and the proportion of abnormal prenatal sonography as an initial complaint larger. Other clinical manifestations were similar. The difference of the renal damage between the prenatally diagnosed group and the postnatally diagnosed group was not statistically significant. A multi-center study may help to prove the importance of prenatal sonography in early diagnosis and treatment of ureteral duplication.

Clinical Manifestations of Ureteral Duplication in Children

PURPOSE: Ureteral duplication is a common urologic anomaly and early diagnosis may prevent irreversible renal damage. We thus aimed to evaluate the benefits of prenatal sonography in early detection. METHODS: We retrospectively studied 55 children with duplicated systems who were admitted to Severance Hospital, Yonsei University, Seoul, Korea from January 1998 to July 2003. RESULTS: The mean age at diagnosis was 2.3 years old. 89% of the children had complete duplicated ureter. 47% of the children visited the hospital with an initial complaint of abnormal prenatal sonographic findings. Among these patients, 70.8% had DMSA defects. The mean differential renal function(DRF) in the DMSA scan was 48.2% in the group diagnosed prenatally. In the postnatally-diagnosed group, DMSA defects were found in 67.7% patients and the mean DRF was 45.5%. CONCLUSION: In comparison with the past studies, the mean age at diagnosis is becoming younger, and the proportion of abnormal prenatal sonography as an initial complaint larger. Other clinical manifestations were similar. The difference of the renal damage between the prenatally diagnosed group and the postnatally diagnosed group was not statistically significant. A multi-center study may help to prove the importance of prenatal sonography in early diagnosis and treatment of ureteral duplication.

A Case of Prenatally Detected Congenital Lobar Emphysema

Congenital lobar emphysema (CLE) is an overinflation of infantile pulmonary lobe caused by air trapping within the affected area. This is usually diagnosed on radiological findings postnatally. Most cases present in the neonatal period with signs of acute or chronic respiratory distress. There are only a few reports of CLE in the literature with prenatal sonographic feature documented. The routine use of prenatal sonography has helped to find fetal anomalies, such as fetal lung mass, that pose a challenge to early diagnosis, appropriate counselling, postnatal follow-up, and better outcome. A boy with CLE was detected by prenatal sonogram. He had a uniformly echogenic right lung with mediastinal shift to the left which was suspected type III congenital cystic adenomatoid malformation prenatally. He showed no evidence of respiratory distress at birth, but experienced progressive tachypnea and chest retraction. He had right middle lobectomy on the seventh postnatal day and pathologic diagnosis of CLE had been made. We report this rare case with brief review of literature. This is the first domestic case which was detected prenatally and confirmed pathologically after lobectomy.

A Case of Transient Myeloproliferative Disorder with Down Syndrome, Presented Hepatosplenomegaly on Prenatal Sonography

Down syndrome (DS) is associated with a higher incidence of leukemia than general population; the subtype is acute megakaryoblastic leukemia (AMKL) in 50% of cases. DS is also strongly associated with transient myeloproliferative disorder (TMD), which is usually diagnosed during newborns and infants. Due to its difficulty in distinguishing TMD from acute leukemia (AL), the diagnosis of TMD should be made with extreme caution. Unlike AL, most cases of TMD resolve spontaneously within 3 months; blast cells disappear within 8 weeks in 80% and within 10 weeks in 90% of the surviving patients. Some infants with TMD, however, may have a severe complication leading into life-threatening clinical course with hepatosplenomegaly, lymphadenopathy, liver impairment, respiratory distress, anemia, infection and hemorrhage. Rarely, AL can develop after remission of TMD. We report a case of TMD with DS in newly born infant who presented hepatosplenomegaly on prenatal sonography and improved with exchange transfusion, steroid.

Prenatal Diagnosis of Choledochal Cyst at 23 weeks by Sonography / 대한산부인과학회잡지

In the past few years a wide variety of fetal abnormalities have been successfully prenatal diagnosed by maternal sonography. Early excision of the choledochal cyst in the newborn is considered to be the optimal treatment and may pose less risk to the patient than delayed surgical exploration. We present a new case diagnosed a choledochal cyst at 23 weeks gestation by routine ultrasound scanning. At 38 weeks gestation a female infant was born by spontaneous delivery. At 7 weeks of age the patient underwent a laparotomy performed cyst excision with Roux-en-Y hepaticojejunostomy. We experienced a case of choledochal cyst at prenatal sonography and report our case with a brief review of literature.