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1.
J Obstet Gynaecol ; 42(7): 2899-2904, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36006022

ABSTRACT

The aim of this study is to retrospectively examine invasive diagnostic methods, structural anomalies accompanying cystic hygroma, and pregnancy outcomes in cystic hygroma cases admitted to a tertiary centre. The population of the study consisted of 29 live foetuses with cystic hygroma in the foetal neck only in the first or second trimester. In the study, pregnant women who applied to our centre were included. Amniocentesis or chorionic villus sampling was performed for genetic analysis according to the weeks of the pregnant women who were diagnosed with cystic hygroma by ultrasound examination by two clinicians experienced in foetal anomaly. Of the pregnant women included in the study, 10 had normal karyotype, 12 had abnormal karyotype and 13 had structural abnormality. It is very important to provide genetic counselling to the families of foetuses with cystic hygroma with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and experienced sonographers. Implications for rehabilitationWhat is already known on this subject? Cystic hygroma, also known as cystic lymphangioma, is a congenital cystic malformation often seen in the first trimester, which occurs in the foetal neck due to the failure of the connections between the cervical lymphatic vessels and the jugular venous system to develop normally. Cystic hygroma may be isolated, but highly associated with foetal aneuploidy, hydrops fetalis, abnormal foetal nuchal translucency.What do the results of this study add? Invasive prenatal diagnostic tests (CVS or amniocentesis) should be performed in all patients with cystic hygroma, as cystic hygromas can be diagnosed by first trimester foetal genetic sonogram screening and are largely accompanied by chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? In foetuses with cystic hygroma, foetal karyotyping, detailed sonography and their documentation, genetic counselling is important to families of cystic hygroma foetuses with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and maternal foetal medicine specialists, since there is a high risk for aneuploidy and foetal malformation.


Subject(s)
Lymphangioma, Cystic , Child , Pregnancy , Humans , Female , Lymphangioma, Cystic/diagnostic imaging , Lymphangioma, Cystic/epidemiology , Pregnancy Outcome , Retrospective Studies , Prenatal Diagnosis , Chromosome Aberrations , Ultrasonography, Prenatal , Aneuploidy
2.
Int J Gynaecol Obstet ; 159(3): 841-849, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35435254

ABSTRACT

OBJECTIVE: To study the outcome of pregnancies with first-trimester increased nuchal translucency and cystic hygromas. METHODOLOGY: Retrospective study of 132 pregnancies with first-trimester increased nuchal translucency and cystic hygromas, between January 2015 to December 2018 at Corniche Hospital, Abu Dhabi, UAE. Fetal karyotyping, detailed ultrasound at 18-22 weeks and fetal echocardiography were offered to all women. Adverse outcomes included miscarriage, intrauterine fetal death, termination of pregnancy, neonatal death and structural abnormalities. RESULTS: Of the 132 pregnancies, 13 had NT > 95th percentile, 89 had NT ≥3 mm and 30 had cystic hygroma. Among 13 pregnancies with NT > 95th centile, 7.6% had abnormal karyotype. Among 89 pregnancies with NT ≥3 mm, 29.2% had abnormal karyotype, 13.4% miscarriage, 7.8% underwent TOP, 5.6% intrauterine fetal death, 1.1% neonatal death and 14.6% had structural abnormalities. Among 30 pregnancies with cystic hygroma, 40% had abnormal karyotype, 20% miscarriage, 13.3% TOP, 13.3% intrauterine fetal death, 6.6% had neonatal death and 20% had structural abnormalities. CONCLUSION: In our study, karyotype abnormalities increased with increasing nuchal translucency with highest risk in fetuses with cystic hygromas. Increased nuchal translucency was associated with adverse pregnancy outcome, which was higher in the group with NT≥6 mm and cystic hygromas.


Subject(s)
Abortion, Spontaneous , Lymphangioma, Cystic , Perinatal Death , Infant, Newborn , Female , Pregnancy , Humans , Nuchal Translucency Measurement , Pregnancy Trimester, First , Lymphangioma, Cystic/diagnostic imaging , Lymphangioma, Cystic/epidemiology , United Arab Emirates/epidemiology , Retrospective Studies , Hospitals, Maternity , Pregnancy Outcome , Fetal Death , Abnormal Karyotype , Ultrasonography, Prenatal , Chromosome Aberrations
3.
Pediatr Neurol ; 126: 26-34, 2022 01.
Article in English | MEDLINE | ID: mdl-34736060

ABSTRACT

BACKGROUND: Acute subdural hematoma (ASDH) and chronic subdural hematoma (CSDH) in infants have been regarded as highly specific for abuse. Other causes of CSDH have not been investigated in a large population. PURPOSE: The purpose of this study was to investigate to what extent external hydrocephalus is present in infants with ASDH and CSDH undergoing evaluation for abuse. MATERIAL AND METHODS: Eighty-five infants suspected of being abused, with ASDH (n = 16) or CSDH (n = 69), were reviewed regarding age, risk factor profiles, craniocortical width (CCW), sinocortical width (SCW), frontal interhemispheric width (IHW), subarachnoid space width (SSW), and head circumference (HC). In infants with unilateral subdural hematoma (SDH), correlations between contralateral SSW and ipsilateral CCW and SDH width were investigated. RESULTS: Infants with CSDH had significantly lower mortality, were more often premature and male, and had significantly higher CCW, SCW, IHW, and SSW than infants with ASDH (P < 0.05). Ipsilateral CCW (R = 0.92, P < 0.001) and SDH width (R = 0.81, P < 0.01) correlated with contralateral SSW. Increased HC was more prevalent in infants with CSDH (71%) than in infants with ASDH (14%) (P < 0.01). Forty-two infants, all with CSDH, had at least one of CCW, SCW, or IHW ≥95th percentile. Twenty infants, all with CSDH, had CCW, SCW, and IHW >5 mm, in addition to increased HC. CONCLUSION: A substantial proportion of infants with CSDH who had been suspected of being abused had findings suggesting external hydrocephalus.


Subject(s)
Brain Injuries, Traumatic/complications , Child Abuse , Hematoma, Subdural, Acute/etiology , Hematoma, Subdural, Chronic/etiology , Hydrocephalus/etiology , Lymphangioma, Cystic/etiology , Registries , Shaken Baby Syndrome/complications , Brain Injuries, Traumatic/epidemiology , Child Abuse/statistics & numerical data , Female , Hematoma, Subdural, Acute/epidemiology , Hematoma, Subdural, Chronic/epidemiology , Humans , Hydrocephalus/epidemiology , Infant , Lymphangioma, Cystic/epidemiology , Male , Registries/statistics & numerical data , Retrospective Studies , Shaken Baby Syndrome/epidemiology , Sweden/epidemiology
4.
World Neurosurg ; 148: e508-e517, 2021 04.
Article in English | MEDLINE | ID: mdl-33444838

ABSTRACT

OBJECTIVE: Decompressive craniectomy (DC) relieves intracranial hypertension after severe traumatic brain injury (TBI), but it has been associated with poor clinical outcome in 2 recent randomized controlled trials. In this study, we investigated the incidence and explanatory variables for DC-related and cranioplasty (CP)-related complications after TBI. METHODS: In this retrospective study, we identified 61 patients with TBI who were treated with DC in the neurointensive care unit, Uppsala University Hospital, Sweden, between 2008 and 2018. Demography, admission status, radiology, and clinical outcome were analyzed. RESULTS: Eleven patients (18%) were reoperated because of postoperative hemorrhage after DC. Six (10%) developed postoperative infection during neurointensive care. Twenty-eight (46%) developed subdural hygromas and 10 (16%) received a permanent cerebrospinal fluid shunt. Sixteen patients (26%) died before CP. Median time to CP was 7 months (range, 2-19 months) and 32 (71%) were operated on with autologous bone and 13 (29%) with synthetic material primarily. In 9 patients with autologous bone (29%), the CP had to be replaced because of bone resorption/infection, whereas this did not occur after synthetic material (P = 0.04). However, all 4 postoperative hemorrhages after CP occurred when synthetic material was used (P = 0.005). CONCLUSIONS: DC and CP surgery have a high risk for complications, leading to additional neurosurgery in about one third of cases. Synthetic CP materials may decrease the risk of reoperation, but special care with hemostasis is required because of increased risk of postoperative hemorrhage. Future trials need to address these topics to further improve the outcome for these patients.


Subject(s)
Brain Injuries, Traumatic/surgery , Decompressive Craniectomy/adverse effects , Decompressive Craniectomy/methods , Postoperative Complications/epidemiology , Adult , Bone Transplantation , Cerebrospinal Fluid Shunts , Female , Glasgow Coma Scale , Hemostasis , Humans , Incidence , Lymphangioma, Cystic/epidemiology , Lymphangioma, Cystic/etiology , Male , Middle Aged , Postoperative Hemorrhage/epidemiology , Postoperative Hemorrhage/surgery , Reoperation/statistics & numerical data , Retrospective Studies , Surgical Wound Infection/epidemiology , Tomography, X-Ray Computed , Treatment Outcome , Young Adult
5.
Neurosurg Rev ; 44(1): 471-478, 2021 Feb.
Article in English | MEDLINE | ID: mdl-31953782

ABSTRACT

Posttraumatic hydrocephalus (PTH) is common in patients undergoing decompressive craniectomy (DC) for traumatic brain injury (TBI), but the incidence, mechanisms, and risk factors have not been fully elucidated. This study aimed to determine the incidence of and the factors associated with PTH. We retrospectively reviewed patients who underwent DC for TBI at our institute between January 2014 and December 2018. We identified and compared the demographic, clinical, and radiological data, and 12-month functional outcome (as assessed by the Glasgow Outcome Scale [GOS]) between patients who developed PTH and those who did not. Logistic regression analyses were performed to identify risk factors for PTH. Additionally, the influence of PTH on unfavorable functional outcome was analyzed. PTH developed in 18 (18.95%) of the 95 patients who survived at 1 month after DC. A multivariate analysis indicated that postoperative intraventricular hemorrhage (odds ratio [OR] 4.493, P = 0.020), postoperative subdural hygroma (OR 4.074, P = 0.021), and postoperative hypothermia treatment (OR 9.705, P = 0.010) were significantly associated with PTH. The 12-month functional outcome significantly differed between the patients who developed PTH and those who did not (P = 0.049). Patients who developed PTH had significantly poorer 12-month functional outcomes than those who did not (P = 0.049). Another multivariate analysis indicated that subdural hemorrhage (OR 6.814, P = 0.031) and the presence of at least one dilated pupil before DC (OR 8.202, P = 0.000) were significantly associated with unfavorable functional outcomes (GOS grades 1-3). Although the influence of PTH (OR 5.122, P = 0.056) was not statistically significant in the multivariate analysis, it had a great impact on unfavorable functional outcomes. PTH considerably affects functional outcomes at 12 months after DC for TBI. Furthermore, postoperative imaging findings such as intraventricular hemorrhage and subdural hygroma can predict the development of PTH; therefore, careful observation is required during the follow-up period.


Subject(s)
Brain Injuries, Traumatic/surgery , Decompressive Craniectomy/adverse effects , Hydrocephalus/etiology , Postoperative Complications/epidemiology , Adult , Aged , Aged, 80 and over , Brain Injuries, Traumatic/complications , Cerebral Ventricles/injuries , Decompressive Craniectomy/methods , Female , Glasgow Outcome Scale , Humans , Hydrocephalus/epidemiology , Hypothermia/complications , Hypothermia/epidemiology , Incidence , Lymphangioma, Cystic/complications , Lymphangioma, Cystic/epidemiology , Male , Middle Aged , Pupil , Retrospective Studies , Risk Factors , Treatment Outcome
6.
Am J Med Genet A ; 185(1): 26-32, 2021 01.
Article in English | MEDLINE | ID: mdl-33026168

ABSTRACT

This objective of this systematic review was to estimate live birth rate and explore prognostic indicators in fetuses with 45,X karyotype and a posterior cystic hygroma (CH). Electronic databases were searched and studies reporting pregnancy outcomes (termination, spontaneous abortion, demise, or live birth) for fetuses with 45,X karyotype and a CH diagnosed on ultrasound were included. For cases of survival, CH characteristics, presence of hydrops fetalis, or concomitant anomalies, delivery details, and postnatal outcomes were summarized. A total of 95 studies, including 535 cases, met inclusion criteria: 285 (53.3%) pregnancies were terminated, 72 (13.5%) had spontaneous abortion or demise, 164 (30.7%) had unspecified pregnancy failure, and 14 (2.6%) were live births. Among live births with data available, all CH measured 2-7 cm, more than half were septate, and almost all regressed in size or eventually disappeared. Hydrops fetalis was noted in five cases. Of the eight live births with neonatal outcomes available, three neonates died shortly after birth and five survived past the neonatal period. This review suggests that diagnosis of CH in a 45,X fetus is associated with an estimated live birth rate of 2.6%, but only 1% survive to infancy. Prognosis appears to improve with CH regression.


Subject(s)
Chromosome Aberrations , Lymphangioma, Cystic/genetics , Pregnancy Outcome , Female , Fetus/pathology , Humans , Infant, Newborn , Karyotype , Karyotyping/methods , Lymphangioma, Cystic/epidemiology , Lymphangioma, Cystic/pathology , Pregnancy , Prognosis , Ultrasonography, Prenatal
7.
J Vasc Surg ; 72(1): 154-161, 2020 07.
Article in English | MEDLINE | ID: mdl-31987668

ABSTRACT

OBJECTIVE: The incidence of perigraft hygroma (PGH) development after aortic reconstruction remains poorly defined and its clinical relevance is questionable. This study was designed to establish the incidence of and determine the risk factors associated with PGH formation and its outcomes. METHODS: Patients who underwent open aortic reconstruction for either aneurysmal or occlusive disease with an expanded polytetrafluoroethylene (ePTFE) or polyester graft from 2004 to 2018 were retrospectively reviewed (n = 262). Only those who had follow-up imaging 3 or more months after repair were included. Patients with mixed graft types were excluded. PGH was defined as a perigraft fluid collection of 30 mm or greater in diameter with a radiodensity of 30 or fewer Hounsfield units on computed tomography at a minimum of 3 postoperative months. Analysis was conducted between patients with and without PGH. RESULTS: One hundred forty patients met the inclusion criteria: 88 were treated with ePTFE and 52 with polyester grafts. Twenty-three patients (16.4%) were found to have radiologic evidence of PGH. PGH developed more frequently in patients with ePTFE (21/88 [23.9%]) compared with those with polyester grafts (2/52 [3.8%]) (P = .002). Mean PGH size was 63.5 ± 36.4 mm (range, 33-153 mm) and the average time to PGH detection 27.7 months (range, 3-112 months). Baseline characteristics were similar between the groups. Patients who developed PGH had larger aneurysms, more often received ePTFE grafts, had larger graft diameters, and had bifurcated grafts. The overall mortality was 32.1% at a mean follow-up of 5.2 years. The 5-year mortality rates were similar between patients with and without PGH (26.1% vs 18.8%; P = .41). Of the 23 patients with PGH, 4 (all with ePTFE) presented with symptoms related to the PGH. The average size of symptomatic and asymptomatic PGH were 11.5 and 4.8 cm, respectively. Mortality rates overall were similar between those with and without symptoms (50.0% vs 36.8%; P = .99). CONCLUSIONS: Nearly one-quarter of aortic reconstructions with ePTFE are associated with PGH formation compared with 4% with polyester. Clinically significant PGH-related symptom development occurs in 20%. Patient education and close surveillance are warranted. Manufacturer's device modification is needed.


Subject(s)
Blood Vessel Prosthesis Implantation/adverse effects , Lymphangioma, Cystic/epidemiology , Seroma/epidemiology , Adult , Aged , Aged, 80 and over , Aorta/diagnostic imaging , Blood Vessel Prosthesis , Blood Vessel Prosthesis Implantation/instrumentation , Blood Vessel Prosthesis Implantation/mortality , Female , Humans , Incidence , Lymphangioma, Cystic/diagnostic imaging , Lymphangioma, Cystic/mortality , Male , Middle Aged , Polyesters , Polytetrafluoroethylene , Prosthesis Design , Retrospective Studies , Risk Factors , Seroma/diagnostic imaging , Seroma/mortality , Time Factors , Treatment Outcome
8.
J Matern Fetal Neonatal Med ; 32(11): 1800-1805, 2019 Jun.
Article in English | MEDLINE | ID: mdl-29241391

ABSTRACT

PURPOSE: Our aim was to evaluate the association of cystic hygroma (CH) with fetal malformations and also to investigate the outcome of fetuses with CH diagnosed in the prenatal period. METHODS: We divided the CH patients into two main groups as isolated CH or CH associated with the congenital structural abnormality (CSA) by measuring the thickness of CH and showing other fetal abnormalities. Pregnancy outcomes were recorded as spontaneous abortion, elective termination, intrauterine death, live birth, postnatal death, and lost to follow-up. RESULTS: There were 74 cases of fetal CH including 19 in CSA-CH group and 55 in isolated-CH group diagnosed between 11 and 21 weeks' gestation. Karyotype analysis of these 28 patients revealed 18 (64.2%) normal karyotypes. Pregnancy outcomes included 54 elective terminations, five postnatal deaths, one spontaneous abortion, six live births, four intrauterine deaths, and four patients were lost to follow-up. CONCLUSION: In the presence of any CSA concurrent with CH, prognosis may be considered as poor and any additional help of fetal karyotyping is questionable. But fetal karyotyping may be advocated in counseling patients with isolated CH, in which a better prognosis and resolvement of CH may be expected in case of a normal karyotype.


Subject(s)
Congenital Abnormalities/epidemiology , Lymphangioma, Cystic/epidemiology , Adult , Cross-Sectional Studies , Female , Humans , Lymphangioma, Cystic/diagnostic imaging , Pregnancy , Retrospective Studies , Tertiary Care Centers/statistics & numerical data , Turkey/epidemiology , Ultrasonography, Prenatal , Young Adult
9.
Eur J Obstet Gynecol Reprod Biol ; 231: 60-64, 2018 Dec.
Article in English | MEDLINE | ID: mdl-30321790

ABSTRACT

OBJECTIVE: This retrospective study aims to evaluate the incidence, presence of chromosomal anomalies and outcome of fetuses diagnosed with cystic hygroma colli in the first trimester in a single tertiary center. STUDY DESIGN: A retrospective study was performed over a ten-years period from 2007 to 2017 of all fetuses with a first-trimester diagnosis of cystic hygroma. Maternal and fetal parameters were assessed with descriptive statistics. RESULTS: A total of 185 singleton pregnancies were included. Chromosomal anomalies were present in 122 cases (65.9%). Sixty-three fetuses (34.1%) had a normal karyotype. Noonan syndrome was diagnosed in 6 cases using additional testing for RASopathies. In euploid fetuses, a major congenital anomaly was detected in 35 of 63 cases (56%) and if present, 91.4% had an abnormal fetal outcome compared to 32.1% if no structural anomaly was found (p < 0.01). Fetuses with a nuchal translucency thickness more than 10 mm and hydropic fetuses had a worse outcome. DISCUSSION: Associated structural anomalies or hydrops fetalis are significant predictors for an abnormal outcome in pregnancies with first-trimester cystic hygroma and a normal karyotype. Cytogenetic evaluation and detailed sonographic evaluation are of great importance in the determination of the prognosis of pregnancies complicated by first-trimester cystic hygroma.


Subject(s)
Lymphangioma, Cystic/diagnosis , Pregnancy Outcome , Adult , Chromosome Aberrations/statistics & numerical data , Female , Humans , Hydrops Fetalis/diagnosis , Karyotype , Lymphangioma, Cystic/epidemiology , Lymphangioma, Cystic/genetics , Noonan Syndrome/diagnosis , Nuchal Translucency Measurement/statistics & numerical data , Pregnancy , Pregnancy Trimester, First , Prenatal Diagnosis , Retrospective Studies , Ultrasonography, Prenatal
10.
J Ultrasound ; 20(2): 127-131, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28593002

ABSTRACT

PURPOSE: Cystic hygroma (CH) is a fetal sonographic finding with an incidence of 1%. Chromosomal abnormalities and structural malformations are commonly related with CH. We aimed to describe our experience and determine the association between diagnosis of CH and adverse pregnancy outcome. METHODS: We retrospectively reviewed data of prenatal CH diagnoses over a ten-year period. Cases were evaluated for maternal age, gestational week at CH diagnosis, invasive procedure, karyotype result, associated abnormality and perinatal outcome. We categorized cases into two groups to understand the impact of maternal age on perinatal outcomes, and the cut-off was 35 years old. RESULTS: Totally 28 individuals were enrolled in the study. The median maternal age at birth was 27.5 years old, and 7 patients were over 35 years old. Karyotype results were available for all individuals, and 15 had an abnormal chromosome (53.5%). Five fetuses had structural abnormalities, and they were all observed within patients under 35 years old. Healthy fetuses (without any problem at antenatal screening and birth) were found to be only 14.3% in advanced maternal age (AMA) group and 33.3% in young mothers. CONCLUSIONS: Women with AMA and CH had a higher risk of having a baby with a chromosomal abnormality, as compared with younger women.


Subject(s)
Lymphangioma, Cystic/diagnostic imaging , Lymphangioma, Cystic/therapy , Pregnancy Complications, Neoplastic/diagnostic imaging , Pregnancy Complications, Neoplastic/therapy , Abnormal Karyotype , Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/embryology , Adult , Disease Management , Female , Follow-Up Studies , Humans , Lymphangioma, Cystic/epidemiology , Maternal Age , Pregnancy , Pregnancy Complications, Neoplastic/epidemiology , Retrospective Studies , Tertiary Care Centers , Ultrasonography, Prenatal
11.
Prenat Diagn ; 36(5): 432-6, 2016 May.
Article in English | MEDLINE | ID: mdl-26934494

ABSTRACT

OBJECTIVE: To describe the association of abnormal outcomes with fetal cystic hygroma detected when crown-rump length measures less than 45 mm, and to compare them to outcomes among fetuses with cystic hygroma detected when crown-rump length measures 45-84 mm. METHODS: We performed a retrospective cohort study of fetuses with first trimester nuchal cystic hygroma from 2005 to 2015. RESULTS: A total of 212 fetuses were included. Abnormal karyotype was found in 20 of 46 (43.4%) fetuses with cystic hygroma detected when crown-rump length measured below 45 mm, compared to 108 of 148 (73%) fetuses with cystic hygroma detected at crown-rump lengths of 45-84 mm (p = 0.001). There were no differences in rates of major structural anomaly (27% vs 36%; p = 0.53) or pregnancy loss (23% vs 7%; p = 0.22) among fetuses with normal karyotype. Those with cystic hygroma diagnosed at crown-rump lengths below 45 mm were more likely to have a normal neonatal outcome compared to cases diagnosed with crown-rump lengths of 45-84 mm (25% vs 11%; p = 0.02). CONCLUSION: Cystic hygroma detected when crown-rump length measures below 45 mm have lower rates of chromosomal abnormalities and a higher proportion of normal birth outcomes when compared to those detected later in the first trimester. © 2016 John Wiley & Sons, Ltd.


Subject(s)
Abnormal Karyotype/statistics & numerical data , Crown-Rump Length , Gestational Age , Hydrops Fetalis/epidemiology , Lymphangioma, Cystic/epidemiology , Adult , Chromosome Aberrations , Chromosomes, Human, Pair 18 , Cohort Studies , Down Syndrome/epidemiology , Early Diagnosis , Female , Humans , Hydrops Fetalis/diagnostic imaging , Lymphangioma, Cystic/diagnostic imaging , Pregnancy , Pregnancy Trimester, First , Retrospective Studies , Trisomy , Trisomy 18 Syndrome , Ultrasonography, Prenatal
12.
Birth Defects Res A Clin Mol Teratol ; 106(1): 5-15, 2016 Jan.
Article in English | MEDLINE | ID: mdl-25846606

ABSTRACT

BACKGROUND: Associations have been reported between maternal radiation exposure and birth defects. No such studies were found on radon. Our objective was to determine if there is an association between living in areas with higher radon levels and birth defects. METHODS: The Texas Birth Defects Registry provided data on all birth defects from 1999 to 2009 from the entire state. Mean radon levels by geologic region came from the Texas Indoor Radon Survey. The association between radon and birth defects was estimated using multilevel mixed effect Poisson regression. RESULTS: Birth defects overall were not associated with residential radon levels. Of the 100 other birth defect groups with at least 500 cases, 14 were significantly elevated in areas with high mean radon level in crude analyses, and 9 after adjustment for confounders. Cleft lip with/without cleft palate had an adjusted prevalence ratio of 1.16 per 1 picoCurie/liter (pCi/L) increase in exposure to region mean radon, 95% confidence interval, 1.08-1.26. Cystic hygroma / lymphangioma had an adjusted prevalence ratio of 1.22 per 1 pCi/L increase, 95% confidence interval, 1.02-1.46. Other associations were suggested but not as consistent: three skeletal defects, Down syndrome, other specified anomalies of the brain, and other specified anomalies of the bladder and urethra. CONCLUSION: In the first study of residential radon and birth defects, we found associations with cleft lip w/wo cleft palate and cystic hygroma / lymphangioma. Other associations were suggested. The ecological nature of this study and multiple comparisons suggest that our results be interpreted with caution.


Subject(s)
Cleft Lip/epidemiology , Cleft Palate/epidemiology , Lymphangioma, Cystic/epidemiology , Lymphangioma/epidemiology , Maternal Exposure/adverse effects , Radiation Exposure/adverse effects , Radon/adverse effects , Adult , Female , Humans , Male , Prevalence , Registries , Regression Analysis , Texas/epidemiology
13.
Braz. j. med. biol. res ; 47(9): 799-803, 09/2014. tab, graf
Article in English | LILACS | ID: lil-719319

ABSTRACT

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.


Subject(s)
Female , Humans , Pregnancy , Chromosome Aberrations , Hydrops Fetalis/genetics , Hydrops Fetalis , Lymphangioma, Cystic/genetics , Lymphangioma, Cystic , Aneuploidy , Fetal Death/etiology , Hydrops Fetalis/epidemiology , Karyotype , Karyotyping , Lymphangioma, Cystic/complications , Lymphangioma, Cystic/epidemiology , Pregnancy Outcome , Prenatal Diagnosis , Prognosis , Retrospective Studies , Turkey/epidemiology , Ultrasonography, Prenatal
14.
Braz J Med Biol Res ; 47(9): 799-803, 2014 Sep.
Article in English | MEDLINE | ID: mdl-25075572

ABSTRACT

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.


Subject(s)
Chromosome Aberrations , Hydrops Fetalis/diagnostic imaging , Hydrops Fetalis/genetics , Lymphangioma, Cystic/diagnostic imaging , Lymphangioma, Cystic/genetics , Aneuploidy , Female , Fetal Death/etiology , Humans , Hydrops Fetalis/epidemiology , Karyotype , Karyotyping , Lymphangioma, Cystic/complications , Lymphangioma, Cystic/epidemiology , Pregnancy , Pregnancy Outcome , Prenatal Diagnosis , Prognosis , Retrospective Studies , Turkey/epidemiology , Ultrasonography, Prenatal
15.
J Matern Fetal Neonatal Med ; 27(4): 342-5, 2014 Mar.
Article in English | MEDLINE | ID: mdl-23795710

ABSTRACT

OBJECTIVE: To investigate the outcome of fetuses with cystic hygroma (CH) diagnosed at the first trimester from a general population in Hong Kong. METHOD: This was a prospective study of 30 fetal cystic hygroma detected at 11 to 13 + 6 weeks' gestation in 8835 sequential unselected pregnancies. Fetal cystic hygroma was categorized as isolated cystic hygroma (ICH) or associated cystic hygroma (ACH) according to the presence of associated multiple congenital structural abnormalities (MCA). RESULTS: There were 10 cases of ICH and 20 cases of ACH. The karyotypes were obtained in 29 cases. In the ICH, 30% (3/10) were associated with chromosomal abnormalities. In the ACH, 65% (13/20) were associated with major chromosomal abnormalities. CONCLUSION: This study suggests that the prognosis of cystic hygroma detected in the first trimester is guarded, with high incidence of MCA (66.7%, 20/30) and chromosomal abnormalities (53.3%, 16/30). The findings support detailed ultrasound examination and invasive prenatal diagnosis for cystic hygroma.


Subject(s)
Abnormalities, Multiple , Chromosome Disorders , Hydrops Fetalis , Lymphangioma, Cystic , Pregnancy Trimester, First , Prenatal Diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/epidemiology , Adult , Chromosome Disorders/diagnosis , Chromosome Disorders/epidemiology , Female , Hong Kong/epidemiology , Humans , Hydrops Fetalis/diagnosis , Hydrops Fetalis/epidemiology , Infant, Newborn , Karyotyping , Lymphangioma, Cystic/diagnosis , Lymphangioma, Cystic/epidemiology , Pregnancy , Prenatal Diagnosis/methods , Prevalence , Prognosis , Prospective Studies
16.
Rev Mal Respir ; 29(9): 1111-5, 2012 Nov.
Article in French | MEDLINE | ID: mdl-23200583

ABSTRACT

INTRODUCTION: Benign cystic mediastinal mass form a group of heterogeneous and uncommon lesions. Surgical resection is the gold standard in these conditions. We reported our institutional experience in management of these benign tumours. In this review, cardiac and ganglionary benign mass were excluded. METHODS: We retrospectively reviewed the records of 28 patients with benign cysts of the mediastinum, who are operated in our department between January 2003 and December 2009 (7years period). RESULTS: There were 13 females (46.4%) and 15 males (53.5%), with a mean age of 36.8years (range: 13-63years). Most lesions (n=22) were equally in the anterior and middle mediastinum, only six were in the posterior mediastinum. Seventeen patients (60.7%) were symptomatic, with chest pain and cough as the most common symptoms. The diagnosis of mediastinal cyst was fortuitous in 11 patients with the waning of an assessment made for another reason. Surgery was indicated in all patients in order to both diagnostic and therapeutic. Posterolateral thoracotomy incision is the most common. Complete resection of the cyst was possible only in 18 cases (64.3%), whereas in ten (35. 7%) other cases part of the cyst was left in place due to tight adhesions to vital structures. After histological study, there were: nine bronchogenic cysts (32.1%), seven hydatid cysts (25%), four cystic lymphangiomas (14.3%), three mature cystic teratomas (10.7%) and three pleuropericardial cysts, one thymic cyst and one parathyroid cyst. The postoperative course was uneventful and no recurrence has been observed until now. CONCLUSION: The benign cysts of the mediastinum is a rare entity, the hydatid etiology remains common in our context. Surgical treatment remains the treatment of choice for mediastinal cysts, when the patient is operable, to save the risk of complications or degeneration.


Subject(s)
Mediastinal Cyst/epidemiology , Adolescent , Adult , Bronchogenic Cyst/epidemiology , Bronchogenic Cyst/surgery , Echinococcosis/epidemiology , Echinococcosis/etiology , Echinococcosis/surgery , Female , Humans , Lymphangioma, Cystic/epidemiology , Lymphangioma, Cystic/surgery , Male , Mediastinal Cyst/congenital , Mediastinal Cyst/etiology , Mediastinal Cyst/surgery , Mediastinal Diseases/epidemiology , Mediastinal Diseases/etiology , Mediastinal Diseases/surgery , Mediastinal Neoplasms/epidemiology , Mediastinal Neoplasms/surgery , Middle Aged , Morocco/epidemiology , Parathyroid Diseases/epidemiology , Parathyroid Diseases/surgery , Retrospective Studies , Teratoma/epidemiology , Teratoma/surgery , Thoracotomy , Young Adult
17.
World J Surg ; 36(5): 1037-43, 2012 May.
Article in English | MEDLINE | ID: mdl-22358782

ABSTRACT

BACKGROUND: Cystic lymphangioma (CL) is a benign rare malformation of lymphatic vessels. Its discovery in adults is rare. Although it can affect any organ, the common forms found in adults are mesenteric and/or retroperitoneal CL. This article was designed to study the epidemiological, diagnostic difficulties, and therapeutic principles of intra-abdominal cystic lymphangioma in adults. METHODS: We report a retrospective study from January 1998 to September 2010 concerning 20 patients who underwent surgical removal of a CL. We were interested in discovering the clinical, biological, and radiological characteristics of CL. The localization, size, and number of cysts have been reported, as well as the surgical intervention used and the postoperative immediate and late complications. RESULTS: The median age was 46 years. Abdominal pain was the main symptom and was found in 15 patients (75%). Physical examination revealed an abdominal mass in 12 patients (60%). In four patients (20%), the cystic lymphangioma was incidental. Abdominal ultrasound and abdominal CT scan helped to highlight 22 cystic masses. CL diagnosis was established preoperatively in 13 patients (65%). Six patients (30%) were operated with a diagnosis other than CL. The diagnosis was made intraoperatively in one case (5%). Only two patients (10%) were operated on in emergency: one due to an infected CL and the other was CL complicated with intracystic hemorrhage. A laparotomy in 13 cases (65%) was the surgical approach used, whereas 7 cases (35%) benefited from a laparoscopy. No conversion was noted. The majority of the patients, 18 cases (90%), received a total cystectomy. Only two patients (10%) had recurrences of which only one was reoperated. CONCLUSIONS: The diagnosis of CL often is facilitated by means of modern imaging; however, other diagnoses may be discussed, particularly hydatid disease endemic areas. If symptomatic lesions or complications arise, complete surgical excision, when possible without major sacrifice, seems to be the best therapeutic option to reduce the risk of recurrence.


Subject(s)
Abdominal Neoplasms/surgery , Lymphangioma, Cystic/surgery , Abdominal Neoplasms/diagnosis , Abdominal Neoplasms/epidemiology , Adult , Aged , Female , Humans , Laparoscopy , Laparotomy , Lymphangioma, Cystic/diagnosis , Lymphangioma, Cystic/epidemiology , Male , Middle Aged , Postoperative Complications , Recurrence , Reoperation , Retrospective Studies , Treatment Outcome
18.
Surg Today ; 41(9): 1314-8, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21874439

ABSTRACT

Cystic lymphangiomas are lymphatic malformations rather than true neoplasms. These are mainly childhood lesions. Involvement of the breast is extremely uncommon, and to the best of our knowledge only 17 such cases have been found in the literature. Breast involvement is even rarer in children, as only four of the reported cases are in the pediatric age group. We herein report a case of cystic lymphangioma of the breast in an 8-year-old male child, which was treated by excision. A review of the reported cases is also presented.


Subject(s)
Breast Neoplasms, Male/diagnosis , Lymphangioma, Cystic/diagnosis , Adolescent , Breast Neoplasms, Male/epidemiology , Child , Diagnosis, Differential , Female , Humans , Lymphangioma, Cystic/epidemiology , Male
19.
Int J Pediatr Otorhinolaryngol ; 74(1): 64-6, 2010 Jan.
Article in English | MEDLINE | ID: mdl-19962770

ABSTRACT

BACKGROUND: The distribution of congenital neck masses varies between countries and is important in diagnosis and treatment modalities. Data from Africa is scarce, and altogether absent from Kenya. OBJECTIVE: To describe the pattern of congenital masses in a Kenyan paediatric population. SET UP: Kenyatta National Hospital, Nairobi Kenya. STUDY DESIGN: Prospective descriptive cross-sectional. METHODOLOGY: Children aged 15 years and below with neck masses who presented to various surgical clinics and wards at the Kenyatta National Hospital between December 2006 and April 2007 were included in the study. They were examined for age, gender, type and location of the neck mass. Mode of investigation and final diagnosis were recorded. Data was analyzed by using statistical package for social sciences. Descriptive statistics were applied to determine means, frequencies and modes. Ninety-five percent confidence interval was used and p value of 0.05 taken as significant. Data are presented in form of tables. RESULTS: Two hundred and thirty-five children (129 male) with neck masses were examined. Fifty-one (22%) of these masses were congenital. Thyroglossal duct cysts were the most common (29%) followed by cystic hygromas (21%) and branchial cleft cysts (20%). Fifty-one percent of the masses were present at birth. The midline was the most common location (31.4%) followed by anterior border of sternocleidomastoid (27.5%) and submandibular region (19.6%). Ultrasound was the commonest diagnostic investigation. CONCLUSION: Congenital defects constitute an important differential diagnosis for paediatric neck masses in Kenya. Thyroglossal duct cysts, cystic hygromas and branchial cleft cysts are the most prevalent occurring most commonly in the midline and anterior border of sternocleidomastoid muscle. An understanding of the distribution of these masses improves diagnosis, preoperative decision making and their overall management.


Subject(s)
Branchioma/congenital , Branchioma/epidemiology , Lymphangioma, Cystic/congenital , Lymphangioma, Cystic/epidemiology , Thyroglossal Cyst/congenital , Thyroglossal Cyst/epidemiology , Adolescent , Branchioma/pathology , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Infant, Newborn , Kenya/epidemiology , Lymphangioma, Cystic/pathology , Male , Mastoid , Muscle, Skeletal/pathology , Neck , Prevalence , Sternum , Thyroglossal Cyst/pathology
20.
Rev. cuba. obstet. ginecol ; 35(4)oct.-dic. 2009.
Article in Spanish | CUMED | ID: cum-50950

ABSTRACT

Los marcadores ecográficos del segundo trimestre, han revolucionado la estimación del riesgo para cromosomopatías, permiten identificar gestantes con riesgo incrementado. OBJETIVOS: realizar una evaluación preliminar de los marcadores ecográficos del segundo trimestre, como indicadores de riesgo para cromosomopatías, en pacientes que se realizaron diagnóstico prenatal citogenético. MÉTODOS: se realizó un estudio descriptivo retrospectivo de corte transversal, con el objetivo de realizar una evaluación preliminar de la utilidad de los marcadores. Para la realización de esta investigación fueron revisadas todas las historias clínicas de las gestantes que se sometieron a estudio citogenético en el Departamento Provincial de Genética de Ciudad de la Habana, perteneciente al Hospital Ginecoobstétrico Ramón González Coro, en el período comprendido entre enero de 2006 y diciembre de 2007. De ellas, se estudiaron 230 gestantes que asistieron a esta consulta con la intención de evaluar los marcadores ecográficos del segundo trimestre, que con más frecuencia constituyeron indicadores de riesgo de cromosomopatías, constituyeron la muestra para estudio. RESULTADOS: de las 15 pacientes con cromosomopatías, solo una tuvo marcadores negativos, lo que muestra una asociación de marcadores positivos y diagnóstico de aberraciones cromosómicas. Los marcadores que mostraron mejor valor predictivo fueron el Higroma Quístico, el CIUR y el Pliegue Nucal aumentado. CONCLUSIONES: cuando no existen marcadores ecográficos positivos del segundo trimestre, esto permite afirmar con una probabilidad de 98 por ciento que el producto de la gestación no posee una alteración cromosómica (AU)


Second trimester echographic markers have revolutionize the risk estimation for chromosome diseases, allowing to identify an increase risk in pregnants. OBJECTIVES: to carry out a preliminary assessment of second trimester echographic markers like risk indicators for chromosome diseases in patients with a cytogenetics prenatal diagnosis. METHODS: a cross-sectional, descriptive and retrospective study was conducted to make a preliminary assessment on markers usefulness. In this assessment all clinical records of pregnants with cytogenetics study were reviewed in Provincial Genetics Department of Havana City from Ramón González Coro: Gynecology and Obstetrics Hospital between January, 2006 and December, 2007. From that total, 230 pregnants seen in this consultation were studied to assess the second trimester echographic markers more frequent like risk indicators of chromosome diseases, were the study sample. RESULTS: from the 15 patients presenting with chromosome diseases, only one had negative markers, showing a relation between positive markers and diagnosis of chromosomal aberrations. Markers with a better predictive value were Cystic Hygroma, IUGR and a increased nuchal fold. CONCLUSIONS: when there are not second trimester positive echographic markers, it allows confirm with a 90 percent of probability that fetus has not chromosomal alteration (AU)


Subject(s)
Humans , Female , Pregnancy , Pregnancy Trimester, Second , Ultrasonography, Prenatal/methods , Risk Factors , Lymphangioma, Cystic/epidemiology , Lymphangioma, Cystic/etiology , Chromosome Disorders/genetics , Chromosome Disorders/etiology , Pregnancy Complications , Epidemiology, Descriptive , Retrospective Studies , Cross-Sectional Studies
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