• Journal of Genetic Medicine
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• 제5권2호
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• pp.125-130
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• 2008

목 적: 양수 천자를 이용한 세포 유전학적 결과와 산전 유전 진단의 적응증의 변화를 알아보고자 하였다. 대상 및 방법: 지난 2000년부터 2007년까지 8년간 미즈메디 병원 산부인과에 내원한 산모 중 산전 유전 진단의 적응증에 해당되어 양수 천자를 시행한 2,523예에 대하여 세포 유전학적 검사 결과를 종합 분석하였다. 결 과: 양수 천자를 시행한 2,523예의 적응증은 고령의 산모가 1159예(45.9%)로 가장 많았으며, 다음으로 양성 산모혈청 표지자가 755예(29.9%)로 많았다. 염색체 핵형 분석 결과로는 정상 핵형이 2,413예(95.6%)였으며, 염색체 이상을 보인 경우가 110예(4.4%)였다. 염색체 이상을 보인 110예에서는 수적 이상이 38예(34.5%), 구조적 이상이 65예(59.1%), 모자이시즘이 7예(6.4%)로 나타났다. 위의 110예의 염색체 이상을 적응증에 따라 분석한 결과에는 고령의 산모로 의뢰된 경우가 40예(36.4%)로 가장 많았으며, 양성 산모 혈청 표지자가 36예(32.7%)로 많았다. 결 론: 양수 천자는 산전 진단에 있어서 효과적인 방법이다. 이에 고령 산모, 산모 혈청 표지자 검사 그리고 초음파 소견과 같은 적응증은 태아의 염색체 이상 등을 예측하기 위한 산전 세포 유전학적 진단에 효과적인 요인이 된다. 이에 지난 8년간의 미즈메디에서 시행한 산전 세포 유전학 분석 결과는 산전 진찰 및 유전 상담의 중요한 자료로 활용될 수 있을 것이라 사료된다.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.99-103
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• 2013

Purpose: This study was designed to determine the frequency and echocardiographic findings of 22q11.2 deletions in fetuses with cardiac defects on fetal ultrasound or familial backgrounds of 22q11.2 deletions. Materials and methods: We retrospectively reviewed the medical and ultrasonographic records of 170 fetuses that underwent fluorescence in situ hybridization (FISH) analysis for chromosome 22q11.2 deletions between February 2001 and April 2013. Results: Among 145 fetuses with cardiac defects, six (4.1%) had 22q11.2 deletions. Deletions of 22q11.2 were detected in 6 (5%) of the 120 fetuses with conotruncal defects: 5 (8.9%) of 56 with tetralogy of Fallot (TOF) and 1 (5.9%) of 17 with double outlet right ventricle (DORV). No deletions were found in cases of pulmonary atresia, truncus arteriosus, right aortic arch, or transposition of the great arteries. No 22q11.2 deletions were found in non-conotruncal cardiac malformations. Among 25 fetuses with familial backgrounds of 22q11.2 deletions, one (4%) had a maternally inherited 22q11.2 deletion with no cardiac findings. Conclusion: Knowledge of the frequency and echocardiographic findings of 22q11.2 deletions might be helpful for prenatal genetic counseling. It is advisable to perform FISH analysis for 22q11.2 deletions in pregnancies exhibiting conotruncal cardiac defects such as TOF or DORV.

• 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.

• 한국수정란이식학회지
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• 제30권4호
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• pp.341-344
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• 2015

A 4-day-old, male Poodle dog was presented with dull, depressed and exhausted activity after the birth. On physical examination, the puppy showed arthrogryposis, muscular atrophy and no movement of hindlimbs. Palpation on dorsum revealed an absence of lumbar and sacral vertebrae. On prenatal and postnatal radiography, lumbar vertebrae, sacrum and coccygeal vertebrae were not visualized. On ultrasonography, bilateral kidney and urinary bladder were observed. On computed tomography, there were no apparent abnormalities in the forelimbs, cervical vertebrae or head, while lumbar vertebrae, sacrum and coccygeal vertebrae were not observed. At necropsy examination, the liver, stomach, intestine, kidney and urinary bladder were normal. This congenital anomaly was consistent with Perosomus elumbis. Perosomus elumbis in dogs is a rare condition of unknown etiology. In this report, Perosomus elumbis was evaluated with radiography, ultrasound and computed tomography.

• Journal of Genetic Medicine
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• 제15권1호
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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.

• 대한기관식도과학회지
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• 제11권1호
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• pp.32-36
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• 2005

This study aimed to report a case of infant who presented with a prenatal ultrasound diagnosis of agnathia, polyhydramnios followed by a review of previous studies. As widely acknowledge, agnathia is a complex lethal malformation characterized by absent mandible, microstomia, microglossia and ear anomaly which are secondary results to a defect of the first branchial auh. Newborn infants with agnathia often suffer from airway obstruction, causing fatal respiratory failure. The most difficult part of treating those newborns is to keep the airway patent. Therefore, as early airway management planning as possible is the most important part. Airway management was achieved with tracheotomy through an ex utero intrapartum treatment procedure(EXIT). The case of this infant, reporting here, was underwent tracheotomy with preservation of uteroplacental blood flow and gas exchange.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.80-83
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• 2007

고리염색체(Ring chromosome)는 매우 낮은 빈도로 발견되는 염색체 이상으로 모든 번호에서 보고되고 있으며 특히 끝곁 매듭 염색체(acrocentric chromosome)에서 빈번하게 관찰 된다. 본 증례는 ring chromosome(고리염색체)11의 산전진단에 관한 것이다. 산모는 36세의 여성으로 모체혈청검사에서 에드워드 증후군의 표시인자가 증가되어, 태아의 염색체 검사를 위해 임신 19.5주에 양수천자술을 시행하였다. 결과는 46,XX,r(11)[65]/45,XX,-11[16]/46,XX[34]로 고리염색체(ring chromosome) 11이 mosaic으로 관찰되었다. 혈액을 이용한 부모 염색체 검사는 모두 정상이었다. 임신 20주에 실시된 정밀초음파 검사에서는 자궁내성장장애(IUGR) 소견을 보였다. 모자익시즘의 확인을 위해 임신 22주에 재대 혈액을 이용한 두번째 염색체 검사 결과는 46,XX,r(11)(p15.5q24.2)[229]/45,XX,-11 [15]이었으며 첫번째 검사에서 관찰되지 않았던 다양한 형태의 고리염색체(ring chromosome)가 소수의 세포에서 관찰되었다. 고리염색체(ring chromosome)11에 대한 FISH 검사에서는 11 염색체의 장완과 11 염색체의 단완의 subtelomeric 부위가 결실되어 있었다.

• 대한방사선기술학회지:방사선기술과학
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• 제40권2호
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• pp.213-218
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• 2017

최근 고위험 임신군이 증가함에 따라 과거에 비해 음향파워 세기가 높은 도플러초음파 이용이 산전 진단에서 점차 증가하고 있으며, 여러 기관에서 가이드라인을 설정하여 과도한 노출을 자제하고 있다. 따라서 본 연구에서는 장시간 초음파검사 실시에 따른 검사모드 별 체표면의 온도변화를 알아보고 열효과에 영향을 받지 않는 노출시간을 고찰해 보고자 하였다. 시간경과에 따른 B mode, C mode, PD mode 별 초음파를 조사한 부위와 조사하지 않은 부위의 온도변화를 측정하여 차이를 비교하였으며 B mode는 초음파 조사 후 10분, 50분에서, C mode는 20분부터, PD mode는 30분부터 온도변화에 유의한 차이를 나타내었다(p<0.01). 측정시점에 따라 3개의 mode에서 모두 온도상승에 차이를 보였으며(p<0.000), PD mode가 가장 온도변화에 민감한 반응을 나타내었다. 또한 초음파 노출시간이 증가함에 따라 온도상승 시간이 짧아짐을 알 수 있었다. 따라서 배아나 태아를 관찰하기 위한 초음파검사 시 과도한 검사시간을 피하여 진단목적으로만 신속하게 사용할 것을 권고한다.

• Advances in pediatric surgery
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• 제7권1호
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• pp.46-53
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• 2001

To understand the current status of neonatal surgery in Korea, a survey was made among the 36 members of the Korean Association of Pediatric Surgeons. The response rate was 75 % (26 surgeons in 20 hospitals). Five hundred fifty three neonatal surgical patients treated in 1999 were analyzed. Regional numbers of patients were closely related to the regional population in most areas. Ano-rectal malformations (17 %), pyloric stenosis (16 %), Hirschsprung's disease (13 %), atresia/stenosis of the gut (11 %), esophageal atresia (8 %) were the most common anomalies treated. The majority of operations were done within the first week of life. Seventy one per cent of cases were major life threatening or so-called neonatal index cases. Over-all mortality was 8 per cent. Higher mortality was observed in patients with diaphragmatic hernia (26 %), gastro-intestinal perforation (18 %), NEC (18 %), and esophageal atresia(14 %). Higher mortality was observed in patients with extremely low birth weight (33%) and low birth weight (18 %). Associated anomalies were observed in 20 %. Prenatal ultrasound was performed in 36 per cent with sensitivity of 20 %. Result of this study was compared to the previous report (1994) and that of Japan (1998).