OBJECTIVE: To determine the frequency of chromosomal abnormalities and outcome of pregnancy for fetuses with increased nuchal translucency (NT). METHODS: Between July 2014 and February 2018, 247 fetuses with increased NT (>95th centile)were analyzed by chromosome microarray analysis (CMA). The fetuses were divided into ones with isolated increased NT (168 cases), increased NT with cystic hygroma (20 cases), increased NT with edema (12 cases) or increased NT with other abnormalities (47 cases). All couples were followed up by telephone calls. RESULTS: The rate of chromosomal abnormalities was 31.6% (78/247), which included 66 cases with chromosomal aneuploidies and 12 with copy number variants (CNVs). CNVs accounted for 31.4% (11/35) of total abnormalities among fetuses with isolated increased NT, whilst only 2.3% (1/43) of the total abnormalities among fetuses with non-isolated increased NT. Three fetuses with a normal CMA result had mental and physical retardation. Two of them were diagnosed with single gene disorders by whole exome sequencing. CONCLUSION CMA can detect more chromosomal microdeletion/microduplications among fetuses with isolated increased NT. Furthermore, fetuses with increased NT and anegative CMA result during pregnancy cannot exclude all adverse outcomes.
Aneuploidy ; Chromosome Aberrations ; Chromosomes ; DNA Copy Number Variations ; Edema ; Female ; Fetus ; Humans ; Lymphangioma, Cystic ; Microarray Analysis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To analyze the prognosis of fetuses with cystic hygroma (CH) or nuchal translucency (NT) or nuchal fold (NF) thickening detected by prenatal echography. METHODS: From January 2014 to December 2015, 124 fetuses with CH and NT/NF thickening on prenatal echography were enrolled from Women's Hospital of Zhejiang University School of Medicine. The basic clinical information, ultrasonic results, pregnancy outcomes and newborn follow-ups were analyzed. The cases were grouped by prognosis and the factors affecting prognosis were analyzed with logistic regression. RESULTS: There were 85 cases of labor induction including one stillbirth and 39 cases delivered. Except one infant who died after birth, all live births survived with good prognosis. Univariate analysis showed that the gestational age at diagnosis of poor prognosis group was earlier than that of good prognosis group (<0.01); and the former group also had higher hydrops fetalis rate and additional structural anomalies rate (all <0.01). Multivariate regression analysis showed that hydrops fetalis (=90.105, <0.05) and additional structural anomalies (=61.854, <0.05) were risk factors of poor prognosis in fetuses with CH and NT/NF thickening. CONCLUSIONS Fetuses with diagnosed CH or NT/NF thickening on prenatal ultrasonography are likely to be associated with chromosomal abnormality. Early gestational weeks, hydrops fetalis and additional structural anomalies may indicate poor prognosis.
Female ; Fetus ; Humans ; Hydrops Fetalis ; etiology ; Infant, Newborn ; Lymphangioma, Cystic ; complications ; diagnosis ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Outcome ; Prognosis ; Ultrasonography, Prenatal

PURPOSE: Preoperative ultrasonography (USG) in pediatric inguinal hernia has controversy. In this study, we analyzed the cases of pediatric inguinal hernia with/without preoperative USG and discussed whether USG is necessary. METHODS: We reviewed medical records of 1,441 patients who underwent inguinal hernia repair in Seoul National University Children's Hospital between January 2011 and August 2016 retrospectively. RESULTS: Male were 69.3% and age at operation was 37.8±36.5 months old. There were 150 patients (10.4%) performed USG preoperatively. The department ordered to perform USG included department of surgery (n=71), emergency medicine (n=42), pediatrics (n=26), urology (n=10) and outside hospital (n=1). The reasons of performing USG included evaluation for hernia laterality (n=82), incarceration (n=28), testis (n=15), request of parents (n=14), scrotal mass (n=6) and incidentally found during evaluation for another disease (n=5). Excepting 5 cases of incidental finding, of 145 cases with USG, 12 (8.3%) cases changed the surgical plan; change to bilateral repair from unilateral repair (n=5), emergency operation due to incarceration (n=4) which include 1 salpingo-oophorectomy, 1 open abdomen surgery and 2 hernia repair after reduction of ovary, change to co-operation of orchiopexy (n=2) and change to laparoscopic surgery from open surgery due to herniation of both ovaries into one inguinal canal (n=1). In group without USG (n=1,291), 5 patients (0.4%) had unexpected problems during operation; 2 co-operation of orchiopexy because of transverse testicular ectopia (n=1) and right undescended testis (n=1), 2 hypertrophy of major labia and 1 retroperitoneal lymphangioma at inguinal area misdiagnosed as inguinal hernia. CONCLUSION: It was difficult to interpret the meaning of preoperative USG because not all patients had performed it. In this study, 10.4% of patients performed USG and 8.3% of them changed surgical plan. About 0.4% of patients without preoperative USG would have benefited from it for surgery if they had performed it. Since the percentage is too low, it is unreasonable to conclude that USG has diagnostic utility in inguinal hernia in this study.
Abdomen ; Child ; Cryptorchidism ; Emergencies ; Emergency Medicine ; Female ; Hernia ; Hernia, Inguinal ; Herniorrhaphy ; Humans ; Hypertrophy ; Incidental Findings ; Inguinal Canal ; Laparoscopy ; Lymphangioma ; Male ; Medical Records ; Orchiopexy ; Ovary ; Parents ; Pediatrics ; Retrospective Studies ; Seoul ; Testis ; Ultrasonography ; Urology

Cystic lymphangioma is a true, benign, congenital multicystic tumor arising from sequestrations of embryonic lymphatic tissue. Most often it occurs at birth or during the early years of life, is found most commonly in the neck, and its distribution coincides with that of the primitive lymph sacs. A 23-year-woman presented with a soft palpable mass on her chest wall. Physical and ultrasound examination revealed a well-circumscribed, mobile, nontender, soft subcutaneous mass on the right posterior chest wall beneath the latissimus dorsi muscle. A skin biopsy of the mass showed endothelium-lined lymphatic vessels and a loose, lace-like fibrous tissue stroma. The specimen was stained with D2-40 showing positive staining of lymphatics. These histopathological findings confirmed the diagnosis of a cystic lymphangioma. We report a rare case of a cystic lymphangioma on the chest wall in a 23-year-old woman.
Adult* ; Biopsy ; Diagnosis ; Female ; Humans ; Lymphangioma, Cystic* ; Lymphatic Vessels ; Lymphoid Tissue ; Neck ; Parturition ; Skin ; Superficial Back Muscles ; Thoracic Wall* ; Thorax* ; Ultrasonography ; Young Adult

Fetal cystic lymphangioma, commonly called hygroma, is formed by multiple cysts ranging from few millimeters to several centimeters in size. Fetal cystic lymphangioma is a rare developmental congenital anomaly of the lymphatic system. Most are found in the neck and axilla, rarely in the retroperitoneum, abdominal viscera, limbs, bones, and cervico-mediastinal area. The prenatal diagnosis of cystic hygroma by ultrasound guidance is commonly localized in the nuchal region. We report a case of rare fetal axillary hygroma that was diagnosed at 27 weeks of gestation and delivered at 37 weeks of gestation.
Axilla ; Extremities ; Lymphangioma, Cystic* ; Lymphatic System ; Neck ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography ; Ultrasonography, Prenatal* ; Viscera

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.
Amnion ; Aneuploidy ; Chorion ; Chromosome Aberrations ; Congenital Abnormalities ; Crown-Rump Length ; Female ; Fetus ; Gestational Age ; Humans ; Lymphangioma, Cystic ; Mass Screening* ; Nasal Bone ; Nuchal Translucency Measurement ; Obstetrics ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy* ; Pregnancy, Multiple ; Prenatal Diagnosis ; Prognosis ; Tricuspid Valve Insufficiency ; Trisomy ; Ultrasonography* ; Ultrasonography, Prenatal ; Uterus

Cystic lymphangioma is a congenital lymphatic malformation that occurs most commonly in the head and neck. Most lymphangiomas are asymptomatic, but progressive enlargement may cause feeding difficulty, airway, and cosmetic problems. According to the diameter of the majority of the cysts, lymphangiomas are divided into macrocystic (>1 cm), microcystic (<1cm), or mixed types. Sclerotherapy has been recommended as a primary treatment because surgery may result in severe tissue defect or functional complication. OK-432 is the most widely used sclerosant. Typical complications include fever, local inflammation, pain and swelling, which can usually be controlled conservatively. Bleomycin has potential risk of lung fibrosis, although there has been no such report in the literature. Acetic acid is a more potent sclerosant, which may be used as a secondary drug due to the risk of adjacent nerve damage in high concentration.The lesions are punctured with a 21 G needle under ultrasound guidance. In macrocystic lesions, we inserted 6-7 F catheters for drainage and instillation of sclerosant. While OK-432 and bleomycin are not removed, alcohol and acetic acid should be removed after indwelling for 20 minutes. Overall, an excellent response (over 90% resolution) rate of 48% was achieved. Response rate was higher in macrocystic type than microcystic type. There may be a risk of airway obstruction due to swelling and inflammation in cervical lesions. Preventive tracheostomy or intubation may be necessary in those lesions. In conclusion, sclerotherapy is a safe and effective for treatment of lymphangioma. It is recommended as a first line therapy.
Acetic Acid ; Airway Obstruction ; Bleomycin ; Catheters ; Drainage ; Fever ; Fibrosis ; Head ; Inflammation ; Intubation ; Lung ; Lymphangioma ; Lymphangioma, Cystic* ; Neck ; Needles ; Picibanil ; Sclerotherapy* ; Tracheostomy ; Ultrasonography

No abstract available.
Aged ; Antigens, CD34/metabolism ; Female ; Humans ; Lymphangioma/pathology/*radionuclide imaging/ultrasonography ; Magnetic Resonance Imaging ; Tomography, X-Ray Computed

OBJECTIVE: To discuss the diagnosis and effective treatment of cystic lymphangiomas located in head and neck in children. METHOD: Fifteen cystic lymphangiomas,diagnosed with pathological evidence, located in head and neck in children were retrospectively analyzed including clinical characteristics, diagnosis, treatment and follow-up data. RESULT: CT and ultrasonography were used to evaluate the size, shape and extent of lymphangiomas in all patients. All patients were treated with surgery. Complete resection was performed in 14 cases, and subtotal resection in one case. Two post-operative complications were found,one was paralyses of mandibular branch of facial nerve, another was Horners syndrome. Tracheotomy operation was done in one case,and the tracheal cannula was taken away before discharged from hospital. Fourteen patients were followed up. There was no recurrence during the follow-up from 6 months to 8 years, while one case who suffered from Horner's syndrome after operation was not cured. CONCLUSION CT and ultrasonography are effective to diagnose cystic lymphangiomas and evaluate the security of clinical treatment. Total or subtotal resection is effective to treat cystic lymphangiomas.
Child, Preschool ; Female ; Head and Neck Neoplasms ; diagnosis ; diagnostic imaging ; surgery ; Humans ; Infant ; Infant, Newborn ; Lymphangioma, Cystic ; diagnosis ; diagnostic imaging ; surgery ; Male ; Retrospective Studies ; Tomography, X-Ray Computed ; Ultrasonography

BACKGROUND/AIMS: Cystic lymphangioma is an uncommon disease, and rarely develops in the intraabdomen. The aim of this article was to discuss about clinical characteristics of intraabdominal cystic lymphangioma developed in Korea. METHODS: Age, sex, symptoms, locations and size of the lesions, diagnostic methods, treatments, complications and recurrence were analyzed in 13 pathologically confirmed cases of intraabdominal cystic lymphangioma and 18 cases of literature consideration reported in Korea. RESULTS: Intraabdominal cystic lymphangioma commonly developed in adults compared to the other lymphangioma, and frequently located in the mesentery. Abdominal pain was the most common symptom, but it was a non-specific finding. Tenderness and abdominal mass were not significantly associated. The size of mass was diverse. Abdominal ultrasonography and abdominal CT were diagnostic tools most commonly used, but preoperative diagnosis was possible only in 22.6%. All patients were discharged without any complications, and no recurrence was reported. CONCLUSIONS: Preoperative diagnosis of intraabdominal cystic lymphangioma is difficult and symptoms and signs are not specific. Intra-abdominal cystic lymphangioma should be suspected in patients with non specific abdominal pain and intraabdominal mass and active diagnostic evaluation is mandatory.
Abdominal Pain/etiology ; Adult ; Aged ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Lymphangioma, Cystic/*diagnosis/pathology/ultrasonography ; Male ; Mesentery/pathology ; Middle Aged ; Omentum/pathology ; Peritoneal Neoplasms/*diagnosis/pathology/ultrasonography ; Prognosis ; Republic of Korea ; Tomography, X-Ray Computed