• Advances in pediatric surgery
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• 제18권1호
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• pp.35-40
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• 2012

Gastric duplication is a rare anomaly which account for only 3.8% of all gastrointestinal duplication. Gastric duplications are usually cystic lesion without communication with lumen. Most frequent presentation is an abdominal mass with vomiting, mainly diagnosed within the first year of life. Surgical removal is necessary in all cases, and optimal timing for surgery is the time that diagnosis is made. However, prenatally diagnosed gastric duplication is getting more common, and determining timing for surgery is not easy due to absent or minimal symptoms just after birth. We experienced prenatally diagnosed gastric duplication in a female newborn baby that gastric duplication was suggested in $24^{th}$ week of gestational age through prenatal ultrasonogram. Surgical removal was done at 3 months after birth, and showed good results. We think that natural history of gastric duplication and prevalent age of surgical disease which is similar to gastric duplication such infantile hypertrophic pyloric stenosis should be considered when timing of surgery on prenatally gastric duplication is decided.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.34-37
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• 2017

5p deletion syndrome, also known as Cri-du-Chat syndrome, is a chromosomal abnormality caused by a deletion in the short arm of chromosome 5. Clinical features of 5p deletion syndrome are difficult to identify prenatally by ultrasound examination, thus most cases of 5p deletion syndrome have been diagnosed postnatally. Here, we report eight cases of 5p deletion syndrome diagnosed prenatally, but were unable to find common prenatal ultrasound findings among these cases. However, we found that several cases of 5p deletion syndrome were confirmed prenatally when karyotyping was performed on the basis of abnormal findings in a prenatal ultrasound scan. Hence, it is necessary to carefully perform prenatal ultrasonography for detection of rarer chromosomal abnormalities as well as common aneuploidy.

• Advances in pediatric surgery
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• 제15권2호
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• pp.173-179
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• 2009

Congenital thoracic malformations such as intra- and extra-pulmonary sequestration, cystic adenomatoid malformation, congenital pulmonary airway malformation, malinosculation, bronchogenic cyst, reduplication cyst, and foregut cyst are frequently detected on routine prenatal ultrasound. There are some controversies about treatment for postnatally persistent pulmonary sequestration. Some authors recommend expectant long term follow up but most authors advocate elective surgical excision because of complication such as respiratory distress, infection, intrathoracic bleeding, haemoptysis, cardiac failure, and potential risk of malignancy. We experienced 2 cases of prenatally diagnosed extrapulmonary sequestration which were located in the subdiaphragmatic retroperitoneum. Resections were performed at 2 months and 4 months of age using intraabdominal approach. There were no complications. In conclusion, if the prenatally diagnosed extrapulmonary sequestration remained postnatally, early operation might reduce morbidity related to extrapulmonary sequestration and parental anxiety without any postoperative complication.

• Advances in pediatric surgery
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• 제20권2호
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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.

• Perinatology
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• 제29권4호
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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.

• Advances in pediatric surgery
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• 제10권1호
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• pp.17-21
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• 2004

Improvement in prenatal ultrasonography is leading to diagnose choledochal cyst before birth and before onset of classical symptom more frequently. But, there is a controversy about optimal timing for Cyst excision of prenatally diagnosed asymptomatic choledochal cyst. To identify the most appropriate timing for surgery in prenatally diagnosed choledochal Cysts, we analyzed 6 patients who had operation for choledochal cysts within 30days after birth at the division of Pediatric Surgery, Samsung Medical Center and Inha University School of Medicine, from June 1995 to June 2002. Males were four and females 2, the mean age at operation was 11.2 days, and the median age 8.0 days. The range of gestational ages of the antenatal diagnosis of bile duct dilatation was 24 weeks to 32 weeks, mean was 38.3 weeks, and mean birth weight was 3,298.3 g. After birth, abdominal ultrasonography, hepatobiliary scintigraphy, and magnetic resonance cholangiopancratography (MRCP) were performed. Mean age at operation was 11.2 days. All patients had the cyst excision and Rouxen-Y hepaticojejunostomy. Immediate postoperative complication was not found. During the median follow-up period of 41 months, one patient was admitted due to cholangitis, and the other due to variceal bleeding. Early operative treatment of asymptomatic newborn is safe and effective to prevent developing complications later in life.

• Journal of Genetic Medicine
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• 제15권1호
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• pp.8-12
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• 2018

Purpose: This study aimed to investigate fetal ultrasonographic findings in cases of prenatally diagnosed de novo balanced translocations and the role of fetal ultrasound in prenatal genetic counseling. Materials and Methods: We collected cases with de novo balanced translocations that were confirmed in chorionic villus sampling, amniocentesis, and cordocentesis between 1995 and 2016. A detailed, high-resolution ultrasonography was performed for prediction of prognosis. Chromosomes from the parents of affected fetuses were also analyzed to determine whether the balanced translocations were de novo or inherited. Results: Among 32,070 cases with prenatal cytogenetic analysis, 27 cases (1/1,188 incidence) with de novo balanced translocations were identified. Fourteen cases (51.9%) showed abnormal findings, and the frequency of major structural anomalies was 11.1%. Excluding the major structural anomalies, all mothers who continued pregnancies delivered healthy babies. Conclusion: Results of a detailed, high-resolution ultrasound examination are very important in genetic counseling for prenatally diagnosed de novo balanced translocations.

• Childhood Kidney Diseases
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• 제2권2호
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• pp.161-168
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• 1998

목 적 : 산전초음파 검사의 흔한 실시로 태아의 여러 선천성 신장 질환이 조기에 많이 발견되고 있고 태아의 수신증 또한 많이 발견되고 있으나 현재까지 산전에 발견된 무증상의 신생아기 수신증의 자연 경과에 대한 이해가 부족한 실정으로, 국외에서 이에 대한 여러 임상 보고가 최근 들어 증가하고 있으나, 국내 보고는 극소수이다. 이에 향후 더 많은 환자에 대한 장기간의 추적을 통하여 수신증의 자연 경과를 살펴보고자 하였다. 방 법 : 1993년 1월부터 1995년 12원까지 산전 초음파 검사에서 수신증으로 진단받고 출생후 실시한 복부 초음파 검사에서 수신증이 확인된 22명의 환아(33 renal unit)를 대상으로 하여 수신증의 원인을 분석하고, 이중 요관신우이행부 폐색이 의심되는 신장에 대해서는 8-24개월 동안 자연 호전 유무를 신 초음파 검사와 배설성 신주사 검사로 추적 관찰하였다. 결 과 : 1) 출생후 실시한 신초음파 등의 검사로 밝혀진 신생아기 수신증의 원인으로 요관 신우이행분 폐색이 23례($69.9\%$), 방광요관역류가 5례($15.1\%$)였으며, 선천성 거대요관, 요관협착, 요관방광이행부 폐색, 요관류를 동반한 중복요관, 다낭성 이형성신 이 각각 1례씩이었다. 2) 요관신우 이행부 폐색으로 진단된 23례의 신장중 복부 종괴가 촉지되었던 4례의 신장을 제외한 19례의 신장중에서 $73.6\%$에 해당하는 14례의 신장이 추적 관찰 기간 동안 수신증의 완전 소실 혹은 호전을 보였으며 단지 2례만이 수신증이 악화되었고, 이중 1례는 신기능의 저하 소견을 보여 수술을 시행받았다. 결 론 : 산전에 발견된 신생아기 수신증의 원인으로 요관신우이행부 폐색이 의심되는 경우가 가장 많았으며 이의 대부분은 실제로 비폐색성 수신증이었고 추적 관찰 기간 동안 대부분 자연 호전되었다. 그저나 현재까지 신생아 시기에 폐색성 수신증을 정확하게 진단하기는 힘드므로 장기간에 걸쳐 주의 깊게 추적 관찰하여 수술적 치료 여부를 결정할 수 있을 것이다.

• Clinical and Experimental Reproductive Medicine
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• 제21권1호
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• pp.131-135
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• 1994

A 27-year-old pregnant woman who had one son with mental and growh retardation and dysmorphic features, was referred for genetic counselling. Cytogenetic investigations revealed 4/22 translocation in the mother(46, XX, t(4;22)(p14;P11)), partial trisomy 4p in son(46, XY, -22, +der(22), t(4;22)(p14;p11)mat). The father had normal karyotype. Amniocentesis and chorionic villi sampling were performed in 3 successive pregnancies. The karyotypes of fetus in 3rd, 4th pregnancies by amniocentesis were 46, XX, t(4;22)(p14;p11) and 46, XX, t(4;22) (p14;p11), and the karyotype of fetus in 5th pregnancy by chorionic villi sampling was found to be 46, XX, -22, +der(22) t(4;22)(p14;p11)mat. We report 3 succesive prenatally diagnosed familial partial trisomy 4p and 4/22 translocation of maternal origin with review of literature.

• 한국발생생물학회지:발생과생식
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• 제22권2호
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• pp.199-203
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• 2018

Although trisomy 16 is commonly detected in spontaneous abortions and accounts for over 30% of cases of autosomal trisomy detected after spontaneous abortion, trisomy 16 mosaicism is rarely detected by amniocentesis in the second trimester. Here, we report a case of level III trisomy 16 mosaicism (47,XX,+16[8]/46,XX[31]) diagnosed by cytogenetic analysis of independently cultured amniotic fluid cells. The female baby was delivered at full term with low birth weight and intrauterine growth retardation, and interestingly, her karyotype was normal (46,XX). Given the difficulty in predicting the outcomes of fetuses with this mosaicism, it is recommended to inform the possibility of mosaicisms including this trisomy 16 mosaicism during prenatal genetic diagnosis and genetic counseling for parents.