A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

Evin Bozcali,Hanifi Ucpunar,Ahmet Sevencan,Mehmet Bulent Balioglu,Akif Albayrak,Veli Polat 대한척추외과학회 2016 Asian Spine Journal Vol.10 No.2

Study Design: Retrospective study. Purpose: To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature: Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods: Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results: We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions: We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups.

선천성 이상의 염색체마이크로어레이 검사 지침(II): 보고 및 해석 지침

원동주,설창안,하정숙,김인숙 대한진단검사의학회 2023 Laboratory Medicine Online Vol.13 No.3

Chromosomal microarray (CMA) analysis can enhance the quality of clinical care for congenital abnormalities, including prenatal diagnosis. Laboratories must develop a comprehensive understanding of the strengths, weaknesses, and purposes of CMA analysis. Following the part I, which covers general and prenatal practical CMA guidelines for constitutional abnormalities, this part II provides instructions for CMA reporting and interpretation for the constitutional abnormalities. This guideline is primarily designed to address copy number variants (CNVs) interpretation and result reporting, as well as the preparation of result documents. 염색체마이크로어레이(Chromosomal Microarray, CMA) 검사의 활용으로 산전진단을 포함한 선천성 이상에서 임상 진료의 질이 향상될 수 있다. 검사실은 염색체마이크로어레이 검사의 장단점과 목적을 잘 이해해야 하고, 검사의 도입, 변경, 수행 과정에서 플랫폼 검증 및 검사 모든 과정의 질관리에 대한 적절한 계획과 지침 및 문서화된 기록을 가지고 있어야 한다. 해당 part II 지침은 선천성 이상에 대한 일반 및 산전 CMA의 실용 지침을 다루는 part I에 이어, CMA의 결과 보고와 해석에 대한 지침을 제공한다. 이번 지침에서는 복제수변이(copy number variant, CNV)의 변이 해석 및 결과 해석, 결과지 작성에 대한 내용을 소개하고자 한다.

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang, Jin A,Sohn, Young Bae,Lee, Jang Hoon,Park, Moon Sung Korean Society of Medical Genetics and Genomics 2021 대한의학유전학회지 Vol.18 No.1

Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies evaluated using chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH). The patient was born at 30 weeks and 2 days of gestation with a body weight of 890 g. He had symmetric intrauterine growth restriction, microcephaly, facial dysmorphism (hypertelorism, blepharophimosis, mild low-set ears, high-arched palate, and micrognathia), and right thumb polydactyly. Echocardiography revealed an atrial septal defect and patent ductus arteriosus. Furthermore, CMA revealed a concurrent microdeletion in 3p26 and a microduplication in 5q35.2q35.3. FISH analysis showed that these genetic changes resulted from a translocation mutation between chromosomes 3 and 5. The patient's mother had mild intellectual disability, short stature, and facial dysmorphism, while his father had a normal phenotype. However, parental FISH analysis revealed that the asymptomatic father carried a balanced translocation of chromosomes 3p26 and 5q35. CMA and FISH tests are useful for diagnosing neonates with multiple congenital abnormalities. Further parental genetic investigation and proper genetic counseling are necessary in cases of chromosomal abnormalities inherited from parental balanced translocations.

산전초음파 선별검사

정바다,원혜성 대한의사협회 2015 대한의사협회지 Vol.58 No.11

Ultrasonography in obstetrics is increasingly used for the screening of chromosomal abnormalities as well as for prenatal diagnosis of congenital abnormalities with safety and technological advancements. In the first trimester, it is important to confirm normal intrauterine pregnancy with viability, detect the abnormalities of uterus and adnexa, determine the number of fetuses and assess chorionicity and amnionicity in case of multiple pregnancy. After establishment of gestational age accurately by crown-rump length, thickened fetal nuchal translucency, absence of nasal bone, tricuspid regurgitation, reverse a wave of ductus venosus and cystic hygroma can be markers for screening of chromosomal abnormalities. In addition, the scan also offers an opportunity to detect gross structural abnormalities, which could help improve the prognosis by early prenatal intervention. In the second trimester, aneuploidy (trisomy 21, 18, 13, Turner syndrome) and genetic syndromes could be detected by major structural defects and soft markers. It is important to consider that many malformations may not be detected prenatally even by qualified practitioners and appropriate equipment, and to counsel patients about the potential for false-positive or false-negative results.

외상 후 우연히 발견된 고리뼈 활의 선천적 결손 (증례 보고)

이승택 ( Seung Taeck Rhee ) 대한외상학회 2013 大韓外傷學會誌 Vol.26 No.1

A 55-year-old woman was seen in the emergency department with posterior neck pain and a headache after a traffic accident. Physical examination revealed tenderness on palpation over the posterior skull and a midline spinous process of the cervical spine without neurologic deficit. A plain radiograph of the cervical spine demonstrated the absence of the lateral portion of the posterior arch of the atlas and very lucent shadowing of the anterior midline of the atlas, suggesting a fracture of the anterior arch. On three-dimensional computed tomography (CT) of the cervical spine, anterior and posterior bony defects of the atlas were noted. Well-corticated defects were noted with sclerotic change and with no evidence of soft tissue swelling adjacent to the bony discontinuities, consistent with a congenital abnormality. With conservative therapy, the patient gradually showed a lessening of the midline tenderness. Careful investigation with radiography or CT is needed for these patients to avoid confusion with a fracture, because these patients seldom need surgical treatment.

The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

Boo, Hyeyeon,Kim, So Yun,Seoung, Eui Sun,Kim, Min Hyung,Kim, Moon Young,Ryu, Hyun Mee,Han, You Jung,Chung, Jin Hoon Korean Society of Medical Genetics and Genomics 2018 대한의학유전학회지 Vol.15 No.2

Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound findings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound findings. Results: During the study period, 824 pregnant women had abnormal ultrasound findings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound findings, overall false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed according to the type of abnormal ultrasound findings. Discordant results were significant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efficacy of NIPT according to the ultrasound findings. The results emphasize the importance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

The clinical usefulness of non-invasive prenatal testing in pregnancies with abnormal ultrasound findings

Hyeyeon Boo,So Yun Kim,Eui Sun Seoung,Min Hyung Kim,Moon Young Kim,류현미,You Jung Han,Jin Hoon Chung 대한의학유전학회 2018 대한의학유전학회지 Vol.15 No.2

Purpose: This study aimed to evaluate the clinical usefulness of non-invasive prenatal testing (NIPT) as an alternative testing of invasive diagnostic testing in pregnancies with ultrasound abnormalities. Materials and Methods: This was a retrospective study of pregnant women with abnormal ultrasound findings before 24 weeks of gestation between April 2016 and March 2017. Abnormal ultrasound ἀndings included isolated increased nuchal translucency, structural anomalies, and soft markers. The NIPT or diagnostic test was conducted and NIPT detected trisomy 21 (T21), T18, T13 and sex chromosomal abnormalities. We analyzed the false positive and residual risks of NIPT based on the ultrasound ἀndings.Results: During the study period, 824 pregnant women had abnormal ultrasound ἀndings. Among the study population, 139 patients (16.9%) underwent NIPT. When NIPT was solely performed in the patients with abnormal ultrasound ἀndings, over-all false positive risk was 2.2% and this study found residual risks of NIPT. However, the discordant results of NIPT differed ac-cording to the type of abnormal ultrasound ἀndings. Discordant results were signiἀcant in the group with structural anomalies with 4.4% false positive rate. However, no discordant results were found in the group with single soft markers. Conclusion: This study found different efἀcacy of NIPT according to the ultrasound ἀndings. The results emphasize the im-portance of individualized counseling for prenatal screening or diagnostic test based on the type of abnormal ultrasound.

Poland 증후군 환아의 마취관리 -증례보고-

정일환 ( Il Hwan Jeong ),최원준 ( Won Jun Choi ),이영재 ( Young Jae Yi ),문성하 ( Sung Ha Mun ),김현수 ( Hyun Soo Kim ) 대한마취과학회 2009 Korean Journal of Anesthesiology Vol.57 No.6

Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral upper extremity abnormalities, usually on the right side. It can be combined with other anomalies such as scapular deformity of the affected side, and hypoplasia or absence of nipple. Typical surgery for a Poland syndrome patient aims to correct the chest wall defect and/or other abnormalities. Ventilation problem such as paradoxical chest movement can occur during anesthesia. We report management of general anesthesia of a Poland syndrome patient with right chest wall defect undergoing inframammary fold reposition and liposuction. (Korean J Anesthesiol 2009; 57: 773∼5)

선천성 이상의 염색체마이크로어레이 검사 지침(I): 일반 및 산전검사 지침

설창안,하정숙,원동주,김인숙 대한진단검사의학회 2023 Laboratory Medicine Online Vol.13 No.3

Chromosomal microarray (CMA) testing can enhance the quality of clinical care for congenital abnormalities, including prenatal diagnosis. Laboratories require a comprehensive understanding of the strengths, weaknesses, and purposes of CMA testing. They should also have appropriate plans, guidelines, and documented records for platform validation and quality control at all stages of testing. Performing prenatal CMA testing necessitates understanding the features of prenatal specimens, devising a verification process, reporting results, and providing genetic counseling. This guideline aims to establish standard test protocols for conducting CMA tests, ensuring accurate results, and aiding in diagnosing and treating patients. 염색체마이크로어레이 검사의 활용으로 산전진단을 포함한 선천성 이상에서 임상 진료의 질이 향상될 수 있다. 검사실은 염색체마이크로어레이 검사의 장단점과 목적을 잘 이해해야 하고, 검사의 도입, 변경, 수행 과정에서 플랫폼 검증 및 검사 모든 과정의 질관리에 대한 적절한 계획과 지침 및 문서화된 기록을 가지고 있어야 한다. 산전 CMA 검사는 산전검체의 특성을 이해하고, 거기에 부합하는 검증과정, 결과보고, 포괄적 유전상담에 대한 계획이 필요하다. 본 지침은 국내 CMA 검사 수행의 표준 검사 지침을 마련하고, 검사의 오류를 줄여 정확한 검사 및 해석을 제공함으로써 환자의 진단과 치료에 도움이 되고자 한다.

Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population

Phawat Matemanosak,Krantarat Peeyananjarassri,Satit Klangsin,Saranya Wattanakumtornkul,Kriengsak Dhanaworavibul,Chainarong Choksuchat,Chatpavit Getpook 대한산부인과학회 2024 Obstetrics & Gynecology Science Vol.67 No.3

Objective This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer- Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. Methods This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022. Results The study included 96 patients with MRKH syndrome. The most common symptom was primary amenorrhea (88.5%), followed by difficulty or inability to engage in sexual intercourse (9.4%) and pelvic mass (2.1%). Notably, 80.3% of the patients did not have extragenital malformations and were diagnosed with MRKH type I (typical form), whereas 19.7% were categorized as MRKH type II (atypical form). Skeletal malformations were the most frequent extragenital anomalies and were present in 19.5% of patients, with scoliosis being the most common skeletal condition. Other extragenital malformations included renal (8.5%) and neurological (1.0%) abnormalities. Clinical vaginal examination revealed complete atresia in 21.8% and vaginal hypoplasia (median vaginal length, 3 cm) in 78.2% of the patients. Half of the patients did not receive treatment because they had not engaged in sexual intercourse. In this cohort, 41.7% of the patients had no difficulty performing sexual intercourse. Hence, self-dilation therapy or concomitant dilation was recommended. Only eight patients (8.3%) underwent surgical reconstruction of the vagina. Conclusion This study confirmed the complexity and heterogeneity of the phenotypic manifestations of MRKH, including the degree of vaginal atresia and types and rates of associated malformations.