• Journal of Genetic Medicine
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• v.15 no.1
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• pp.43-47
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• 2018

Partial hydatidiform mole and coexisting fetus is a rare entity with antecedent high risk of maternal and fetal complications, and risk of persistent trophoblastic disease in later life. Here, we report a case of twin pregnancy with live fetus identified as 45,X and normal placenta and another partial mole. Ultrasound scan at 10 weeks showed a hydrops fetus with a focal area of multicystic placenta. The patient underwent chorionic villus sampling and amniocentesis for chromosomal analysis, and the result was 45,X. Based on these finding, the patient then underwent induced abortion. Pathological examination (immunohistochemical staining) of the placenta confirmed the partial mole. This report suggests that careful prenatal ultrasonography and appropriate karyotyping in a molar pregnancy and coexisting fetus enable early diagnosis and may be beneficial for prognosis.

• Advances in pediatric surgery
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• v.11 no.1
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• pp.1-8
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• 2005

With the development of fetal ultrasonography, detection of fetal ovarian cysts has been increased. Although ovarian cyst formation during the perinatal period is a self limiting process, there is still considerable controversy regarding the best treatment of the fetal ovarian cyst. The purpose of this study is to evaluate the natural history of fetal ovarian cysts and to analyze the result of treatment. From 1995 to 2004, 31 consecutive fetuses with ovarian cysts were followed by ultrasonography during the perinatal period. The fetal ovarian cyst was diagnosed by prenatal ultrasonography between 25weeks and 38 weeks and the mean size of the cysts was 5cm (ranged from 2 to 8cm). At birth, 3 cysts disappeared. In 2 cases, the diagnoses were changed to multicystic kidney disease and intestinal duplication. During following up of 26 cysts, 15 cysts have resolved completely. Seven cysts required oophorectomy because of cyst torsion (n=3), differentiation of tumorous condition (n=2), increased size of cyst (n=1), and large size (8cm) of cyst at birth (n=l). Fetal ovarian cyst should primarily be observed, and only in the limited cases, surgical treatment would be required for the risk of complications such as torsion and differentiation from benign to malignant pathology.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1213-1218
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• 2002

Purpose : Hydronephrosis constitutes a great portion of fetal anomalies screened by prenatal sonogram. The present authors made an attempt to access its natural courses through follow up neonatal hydronephrosis diagnosed by prenatal sonogram. Methods : The study was composed of 23 neonates(36 renal units) who were diagnosed with hydronephrosis through prenatal sonogram screening and confirmed 3-7 days after birth with sonographic evaluation at Kyung Hee University Hospital. The neonates were closely monitored for 12-24 months with renal sonogram, diuretic renogram, intravenous pyelography(IVP) and voiding cystoureterography(VCUG). Results : The underlying diseases were composed of 16 cases(44%) of functional abnormalities, 14 cases(39%) of ureteropelvic junction(UPJ) obstruction, three cases(8%) of vesicoureteral reflux (VUR) and on case each of multicystic dysplastic kidney, UPJ obstruction with ureteral stenosis and ureterovesical junction(UVJ) obstruction with VUR. The degree of hydronephrosis was divided into three classes according to its severity. In 30 renal units with UPJ obstruction and functional abnormalities, 26(87%) showed mild hydronephrosis, while four(13%) were moderate. During the follow up period, six cases(20%) showed natural resolution of hydronephrosis, 15 cases(50%) showed improvement while two cases(7%) were aggravated with improvement only after surgery of the underlying disease. The cases which showed natural resolution were all mild hydronephrosis at diagnosis and the cases which underwent surgery due to continuous aggravation were mild one case and moderate one case. Conclusion : Those with cases of mild hydronephrosis show rapid natural improvement. On the other hand, in some cases, follow up monitoring reveal aggravation of the situation, emphasizing the necessity for thorough follow up for a long period of time.

• Advances in pediatric surgery
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• v.20 no.2
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• pp.53-57
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• 2014

Purpose: Neonatal neuroblastoma (NBL) is the most common malignant tumor in neonates, but there have been few studies about it. The purpose of this study was to investigate the clinical features of NBL and to compare prenatal and postnatal diagnosed groups. Methods: Nineteen patients who were diagnosed with NBL prenatally or within 28 days after birth from February 1986 to February 2013 in Seoul National University Hospital were enrolled in the study. The patients were categorized according to the International Neuroblastoma Staging System (INSS) and Children's Oncology Group (COG). Retrospective medical-record reviews were performed on these patients. The operative date, complication, pathological stage, and overall survival of the prenatally diagnosed group and the postpartum diagnosed group were compared. Results: Tumor was detected via prenatal ultrasonography in 8 patients (42.1%), and 11 patients (57.9%) were diagnosed within 28 days after birth. Based on INSS, the patients were divided into the stage I (n=8), stage II (n=1), stage III (n=3), stage IV (n=4), and stage IVs (n=3) groups, respectively. Based on COG, on the other hand, the patients were divided into the low-risk (n=8), intermediate-risk (n=8), and high-risk (n=3) groups. The postoperative complication rate was 29%. One patient died from complications from chemotherapy. The other 18 patients' mean follow-up period was 77.7 months. The differences between the postoperative complication rate, proportion of early-stage tumor, and overall survival of the prenatal and postnatal groups were not statistically significant (p=0.446, p=0.607, p=0.414). Conclusion: NBL showed favorable outcomes but relatively higher postoperative complications. There seem to be no significant statistical differences in the postoperative complications, proportion of early-stage tumor, and overall survival between the prenatally diagnosed group and the postpartum diagnosed group.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.1-7
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• 2018

Sonographic findings with little or no pathological significance, known as soft markers, are often found in aneuploidy fetuses. After normal screening for the aneuploidy in first trimester, there are no uniform recommendations regarding when to disregard or put on clinical significance in isolated soft markers. Associations between some soft markers and adverse pregnancy outcomes including intrauterine fetal death, preterm birth, fetal growth restriction, and congenital infection have been reported in euploidy fetuses. The present article aims to review recent literatures about the clinical significance of soft markers after normal first trimester combined screening or noninvasive prenatal testing, and propose a simple clinical summary for management of specific soft markers in pregnancies.

• Perinatology
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• v.29 no.4
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• pp.185-188
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• 2018

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis, and meningomyelocele. We describe a spondylocostal dysplasia form of Jarcho-Levin syndrome that was prenatally diagnosed at 11 weeks of gestation and surviving. Although the patient had sporadic-type Jarcho-Levin syndrome, with normal karyotype and no family history of disease, the assessment of inheritance patterns and genetic counseling for the parents was important to inform them about the potential risks.

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.223-231
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• 2002

Purpose : We review our experience with pyeloplasty for unilateral ureteropelvic junction obstruction of moderate to severe hydronephrosis observed by prenatal ultrasonography to assess the appropriate timing of operation for recovery of renal function and obstruction. Methods : We retrospectively reviewed the records of the total 28 patients who underwent pyeloplasty between 1995 and 2001 at Asan Medical Center. We compared pre and postoperative differentials in renal function and diuretic renogram as measured by technetium-99m-mercaptoacetyl-triglycerine scan and the degree of hydronephrosis by renal ultrasonography. Results : In all 28 patients postoperative follow-up renal ultrasonography revealed significant improvement in hydronephrosis. In 10 poorly functioning hydronephrotic kidneys in which relative renal function function was less than 35%, renal function was improved postoperatively in 3 cases, but not improved in 7 cases. In all 28 patients postoperative follow-up diuretic renogram revealed significant improvement. Conclusion : We believe that the early pyeloplasty should be considered when ultrasonography and diuretic renography suggest obstruction because renal function does not improve significantly after pyeloplasty over preoperative value.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.395-400
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• 2002

Recently, the increasing use of antenatal high resolutional ultrasonographic studies, and the increasing expertise of sonographers have contributed to the more frequent prenatal detecton of fetal hepatic calcification. Fetal hepatic calcification can arise from peritoneal, ischemic, infectious, neoplastic, and idiopathic causes. There are many reports that the prognosis is good in isolated fetal hepatic calcification without chromosomal aberrations, associated congenital malfomations or other organ abnormalities. We report one case of fetal hepatic calcification diagnosed by prenatal ultrasonography at gestational age of 27 weeks, without chromosomal abnormalities or other associated organ abnormalities, showing good prognosis.

• Childhood Kidney Diseases
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• v.23 no.2
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• pp.100-104
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• 2019

Purpose: Ureteral duplication is a relatively common congenital urinary tract abnormality that can be associated with various clinical problems such as vesicoureteral reflux (VUR), hydronephrosis, and ectopic ureters. The purpose of this study was to analyze the clinical characteristics of pediatric patients with recently diagnosed ureteral duplication and to identify any differences from those described in previous reports. Methods: We retrospectively reviewed the clinical characteristics and course of pediatric patients who were diagnosed with ureteral duplication between January 2008 and June 2017. Results: A total of 32 pediatric patients were diagnosed with ureteral duplication during the study period. The male to female ratio was 1:2.2. Twenty-seven patients (84.4%) were first diagnosed with ureteral duplication at less than 3 months of age, and 26 (81.3%) were first diagnosed by prenatal ultrasonography. Four of the 32 patients were diagnosed with bilateral ureteral duplication, for a total of 36 occurrences of ureteral duplication. In 17 occurrences of complete ureteral duplication (47.2%), other urinary tract anomalies were also found; namely, ureterocele (7), VUR (11), and ectopic ureter (5). However, none of the patients with incomplete ureteral duplication had ureterocele or VUR. Conclusions: With the advent of routine prenatal ultrasound, ureteral duplication is being diagnosed earlier than was previously possible, enabling timely treatment of the various accompanying urinary tract anomalies. Multicenter studies are needed to establish guidelines for standardized evaluation and treatment of ureteral duplication.

• Clinical and Experimental Pediatrics
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• v.52 no.8
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• pp.917-921
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• 2009

Purpose : Although renal ultrasonography (USG) has improved the detection rate of hydronephrosis (HN), its clinical courses and postnatal management remains controversial. Here, we reviewed the clinical features of patients with HN according to the grades. Methods : We retrospectively studied 207 patients who were regularly followed-up among 367 patients with HN detected by renal USG postnatally between April 1998 and December 2007. These patients were grouped into four groups, grades 1-4, according to renal pelvic diameter (RPD). For analysis, each group was merged into two categories (mild: grade 1, 2; severe: grade 3, 4). Results : During follow-up, 128 episodes of urinary tract infection (UTI) occurred in 91 patients. According to grades from 1 to 4, 35/89 (39.3%), 41/88 (46.5%), 11/22 (50%), and 4/8 (50%), respectively, had UTI, without any significance between the mild and severe groups. However, the severe group presented a higher risk in cumulative episodes of UTI per year (P=0.041). The spontaneous resolution of HN was observed in 103 (58.8%) of the 175 mild group patients and in 3 (10.7%) of the 28 severe group patients (P<0.001). Furthermore, the detection rate of prenatal HN by prenatal USG was much higher in patients with severe RPD (P<0.001). Conclusion : We found that the severer the grade of HN, the lower was the rate of spontaneous resolution and higher was the frequency of UTI. Therefore, the establishment of guidelines for managing treatments such as antibiotic prophylaxis for patients with HN is needed to improve renal prognosis.