• Journal of Yeungnam Medical Science
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• v.38 no.3
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• pp.240-244
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• 2021

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

• Korea Journal of Hospital Management
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• v.10 no.1
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• pp.93-114
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• 2005

The prenatal care is the preventive medical service to help the pregnant mother deliver the healthy baby. It's regular examines give some chances to check-up the healthy conditions. This thesis concentrates on the CRM system to support an effective prenatal care system and prove the effectiveness of it. As CRM is the adapted management related to the customer's own information, it is important to develop the CRM model classified by the patients characteristics. A general hospital in Busan operated the CRM system to carry out the effective prenatal care and there is an analysis to ensure the effectiveness of CRM system for the pregnant women in our maternity ward. The results can be summarized as follows: 1) According to the comparisons with the CRM system, we can conclude the system is desirable. (1) Maternal Age : In the age distribution, the prenatal visit frequency, triple marker freqency, oral GTT and targeted ultrasonography in the experimental group in 30 to 34 years old is higher on the whole. For over 35 years old group, the higher frequency comes out in the oral GTT and targeted ultrasonography and for 25 to 29 years old group the different figure shows just in the targeted ultrasonography. (2) Area of residence: There is a clear difference in all the items in Busan and near area but no sign of difference in prenatal visits and oral GTT in other residencial area. Especially in the targeted ultrasonography the higher figure shows in the experimental group located in the both areas. The targeted ultrasonography is known as the specific examination which should be examined by the specialists, on the contrary the other examinations can be operated in the small clinic. So the public information and seminars related with ultrasonography increases the check-up frequency. The clinic requests some ultrasonographical examinations to the specialists in general hospital. (3) Parity: The clear difference shows that the CRM system causes the prenatal visit frequency to become higher in experimental group. The figure is 9.7 times and 8.6 times each. This is opposite that the past study said multiparity reduced the average prenatal visits. But the result of CRM is considered as the method to help the multiparity understand the importance of the prenatal care. (4) Obstetrical history: In the experimental group of the spontaneous delivery group, the figure is higher in the prenatal visit frequency, triple marker, oral GTT and targeted ultrasonography but the Caesarean section delivery group has higher figure in targeted ultrasonography. (5) In the first check-up, the rate of targeted ultrasonography in under 16 week pregnancy, in the 16 week pregnancy to 32 week pregnancy and the over 32 week pregnancy in the experimental group is upper than the compared one. For the oral GTT, there is a difference in under 16 week pregnancy but no difference in prenatal visits and triple marker. 2) The analysis of characteristics of prenatal care through the decision tree resulted in the fact that the most important variable is the residential area. After the delivery frequency is following, the obstetrical history and maternal age are in order. It is the same result in the triple marker and oral GTT. Consequently it is the same order of important variables in CRM system. The effectiveness of CRM system is proved in this study. The CRM system is a marketing method to control and lead the customers through the segmentation of customer data. It increases the new customer aquisition, maintenance of loyal customers, augmentation of customers value, activation of potential customers and creation of life time customers. So eventually it can enlarge the customers value. The medical institution should make efforts to establish the data base enforced by the customer's information on the underlying ordinary data system to carry out the CRM system effectively. In addition, it should develop the a variety of marketing strategy in order to set up one to one marketing satisfying the needs of individual patients.

• Journal of Yeungnam Medical Science
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• v.40 no.3
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• pp.268-275
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• 2023

Background: With the establishment of international guidelines and changes in insurance policies in Korea, the role of targeted ultrasonography has increased. This study aimed to identify the rates and clinical course of anomalies detected using prenatal targeted ultrasonography. Methods: This study was a retrospective analysis of all pregnancies with targeted ultrasonography performed in a single secondary medical center over 5 years. Results: Fetal anomalies were detected by targeted ultrasonography in 137 of the 8,147 cases (1.7%). The rates of anomalies were significantly higher in female fetuses (2.0% vs. 1.3%). In cases of female fetuses, the rate of anomalies was significantly higher in the advanced maternal age group (2.4% vs. 1.2%). In cases of male fetuses, the rate of anomalies was significantly higher in nulliparous (2.4% vs. 1.5%) and twin (5.7% vs. 1.9%) pregnancies. Pulmonary anomalies were significantly more common in the multiparity group (17.6% vs. 5.8%). Among the 137 cases, 17.5% terminated the pregnancy, 16.8% were diagnosed as normal after birth, and 42.3% were diagnosed with anomalies after birth or required follow-up. Conclusion: Through the first study on the rates and clinical course of anomalies detected by targeted ultrasonography at a single secondary center in Korea, we found that artificial abortions were performed at a high rate, even for relatively mild anomalies or anomalies with good prognosis. We suggest the necessity of a nationwide study to establish clinical guidelines based on actual incidences or prognoses.

• Journal of Genetic Medicine
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• v.19 no.2
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• pp.43-48
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• 2022

A prenatal chromosomal microarray (CMA) is generally recommended when a major anomaly is suspected on prenatal ultrasonography. As it can overcome the limitations of conventional karyotyping, it is expected that the number of prenatal CMA test requests will gradually increase. However, given the specificity of prenatal diagnosis, there are practical considerations compared to postnatal testing, such as the validation of prenatal specimens, maternal cell contamination, precautions when reporting variants of uncertain significance, and the need for comprehensive genetic counseling considering secondary findings. The purpose of this article is to provide necessary information to health care providers in consideration of these issues and to provide appropriate genetic counseling to patients.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.37
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• pp.24.1-24.5
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• 2015

Ultrasonographic examination is widely used for screening of abnormal findings on prenatal screening. Cleft lip with or without cleft palate of the fetus can also be screened by using ultrasonography. Presence of abnormal findings of the fetal lip or palate can be detected by the imaging professionals. However, such findings may not be familiar to oral and maxillofacial surgeons. Oral and maxillofacial surgeons can use ultrasonographic imaging of fetal cleft lip with or without cleft palate to provide information regarding treatment protocols and outcomes to the parent. Therefore, surgeons should also be able to identify the abnormal details from the images, in order to setup proper treatment planning after the birth of the fetus. We report two cases of cleft lip with or without cleft palate that the official readings of prenatal ultrasonography were inconsistent with the actual facial structure identified after birth. Also, critical and practical points in fetal ultrasonographic diagnosis are to be discussed.

• Advances in pediatric surgery
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• v.10 no.2
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• pp.87-91
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• 2004

As prenatal ultrasonography becomes popular, the number of prenatal diagnosis of congenital surgical diseases is also increasing. To evaluate the impact of antenatal ultrasonography on outcome the mortality rate in neonatal surgical emergencies was studied. The authors retrospectively reviewed 281 patients (congenital diaphragmatic hernia: 44, tracheoesophageal fistula: 78, intestinal atresia: 98, omphalocele: 28 and gastroschisis: 33 who had been managed at Seoul National University Childrens Hospital, from January 1991 to December 2000. The patients were divided into two groups; group A (1991 to 1995; 139 patients) and group B (1996 to 2000; 142 patients). These two groups were subdivided into prenatally diagnosed subgroup and postnatally diagnosed subgroup. We analyzed the changes of prenatal diagnosis rate, total mortality rate, and mortality rate of subgroups. Prenatal diagnosis rate was increased significantly in group B (Group A: 24.5 % and Group B: 45.1 %). Total mortality rate of group A was 21.6 %, and that of group B was 10.6 %, showing a significant decrease in group B. However, in both group A and B, when compared antenatally diagnosed subgroup with postnatally diagnosed subgroup, the mortality rate was lower in postnatally diagnosed subgroups but statistically not significant. The authors conclude that although prenatal diagnosis rate has been increased, prenatal diagnosis itself has not resulted in significant improvement in outcome.

• Advances in pediatric surgery
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• v.3 no.1
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• pp.15-23
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• 1997

During a 6-year period, from January 1990 to December 1995, 101 neonates with congenital anomalies were admitted to the division of Pediatric Surgery of Youngdong Severance Hospital. All of them had prenatal screening more than once with ultrasound. Fifty eight of them had prenatally detectable anomalies by ultrasonography. However abnormalities were prenatally detected in 24 neonates(41%). The detection rate was 70% in patientws who had the prenatal screening at our hospital, whereas, the rate was 24% when it was performed at other medical facilities. Duodenal and jejuno-ileal atresia showed the highest detection rate(86%) followed by abdominal mass. Esophageal atresia was suggested by maternal polyhydramnios in 3 patients (25%). Only one patient with diaphragmatic hernia(1.75%) was prenatally detected and none with gastroschisis. The mean interval from birth to operation was 32 hours in the prenatally detected patients and 50 hours in the non detected. The complication rate and the mortality after emergency operation were 20% and 7% in the detected group, and 58% and 23% in the nondetected, respectively. The average period of the hospitalization was 20 days in the detected group and 39 days in the nondetected. We conclude that the prenatal detection of anomalies is necessary to ensure adequate care for the mothers and the babies with congenital anomalies. This includes early transfer, timing of optimal delivery and operation.

• Childhood Kidney Diseases
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• v.28 no.1
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• pp.1-7
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• 2024

Antenatally diagnosed urinary tract dilatation (UTD), previously referred to as antenatal hydronephrosis, is the most commonly detected abnormality by prenatal ultrasonography. Several grading systems have been developed for the classification of antenatal UTD using prenatal and postnatal ultrasonography. UTD comprises a wide variety of congenital abnormalities of the kidney and urinary tract ranging from transient UTD to more significant abnormalities such as vesicoureteral reflux, ureteropelvic junction obstruction, ureterocele, ureterovesical junction obstruction, posterior urethral valves, and non-refluxing megaureter. Optimizing the evaluation of antenatally detected UTD is essential to recognize children with important disorders while avoiding excessive investigations. Conservative approach with close follow-up is increasingly accepted as an appropriate treatment option for patients with asymptomatic vesicoureteral reflux and ureteropelvic junction obstruction in recent years. However, predicting permanent kidney damage in an unselected group of children with antenatal UTD is still challenging. The management and follow-up of children with UTD should be individualized based on recommendations from a pediatric nephrologist, a pediatric urologist, or both. Future research directed at predicting long-term outcomes of children diagnosed with UTD from mild findings to severe disease is needed to refine management for those at higher risk of kidney disease progression.

• Journal of Genetic Medicine
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• v.14 no.1
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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.

• Journal of Genetic Medicine
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• v.15 no.1
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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.