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1.
J Matern Fetal Neonatal Med ; 35(18): 3489-3494, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32954877

RESUMEN

OBJECTIVE: The purpose of this study was to analyze the clinical and perinatal outcomes along with ultrasonographic characteristics of fetuses with a cardiac tumor. METHODS: The data were obtained retrospectively between January 2010 and December 2019 in a tertiary referral center. The Cardiovascular Profile Score (CVPS) was used for the diagnosis of heart failure. Clinical outcomes of the cases identified in the postnatal period were analyzed. RESULTS: Fourteen cases were evaluated with the fetal cardiac tumor. One case made the decision to terminate the pregnancy. Perinatal death was seen in 4 (30.7 %) cases out of 13 cases. In 3/14 (21.4%) cases, a solitary cardiac tumor was found while multiple cardiac tumors were found in 11/14 (78.6%) cases. All living cases 9/9 (100%) had the diagnosis of tuberous sclerosis complex (TSC). When the cases which survived were compared with the cases which died during the prenatal period, a significant difference in tumors' biggest diameters (16.44 ± 5.12 mm vs. 32.25 ± 9.28 mm; p: .011, respectively) was found. No statistically significant difference was found in the number of the tumor(s) and heart failure. CONCLUSION: Fetal cardiac tumors can have serious perinatal mortality. The cardiac tumor size was found to be associated with perinatal mortality. The survival is not different between the cases with solitary and multiple tumors and those with and without congestive heart failure.


Asunto(s)
Enfermedades Fetales , Insuficiencia Cardíaca , Neoplasias Cardíacas , Rabdomioma , Femenino , Enfermedades Fetales/diagnóstico , Feto/patología , Neoplasias Cardíacas/complicaciones , Neoplasias Cardíacas/diagnóstico por imagen , Humanos , Embarazo , Estudios Retrospectivos , Rabdomioma/complicaciones , Rabdomioma/diagnóstico por imagen , Centros de Atención Terciaria , Ultrasonografía Prenatal
2.
J Matern Fetal Neonatal Med ; 35(25): 6644-6653, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-34233555

RESUMEN

INTRODUCTION: Placenta accreta spectrum is a major obstetric disorder that is associated with significant morbidity and mortality. The objective of this study is to establish a prediction model of clinical outcomes in these women. MATERIALS AND METHODS: PAS-ID is an international multicenter study that comprises 11 centers from 9 countries. Women who were diagnosed with PAS and were managed in the recruiting centers between 1 January 2010 and 31 December 2019 were included. Data were reanalyzed using machine learning (ML) models, and 2 models were created to predict outcomes using antepartum and perioperative features. ML model was conducted using python® programing language. The primary outcome was massive PAS-associated perioperative blood loss (intraoperative blood loss ≥2500 ml, triggering massive transfusion protocol, or complicated by disseminated intravascular coagulopathy). Other outcomes include prolonged hospitalization >7 days and admission to the intensive care unit (ICU). RESULTS: 727 women with PAS were included. The area under curve (AUC) for ML antepartum prediction model was 0.84, 0.81, and 0.82 for massive blood loss, prolonged hospitalization, and admission to ICU, respectively. Significant contributors to this model were parity, placental site, method of diagnosis, and antepartum hemoglobin. Combining baseline and perioperative variables, the ML model performed at 0.86, 0.90, and 0.86 for study outcomes, respectively. Ethnicity, pelvic invasion, and uterine incision were the most predictive factors in this model. DISCUSSION: ML models can be used to calculate the individualized risk of morbidity in women with PAS. Model-based risk assessment facilitates a priori delineation of management.


Asunto(s)
Placenta Accreta , Femenino , Humanos , Embarazo , Placenta Accreta/cirugía , Placenta Accreta/diagnóstico , Placenta , Pérdida de Sangre Quirúrgica , Transfusión Sanguínea , Aprendizaje Automático , Estudios Retrospectivos , Histerectomía/métodos
3.
Turk J Med Sci ; 51(4): 1775-1780, 2021 08 30.
Artículo en Inglés | MEDLINE | ID: mdl-33581708

RESUMEN

Background/aim: Although cutting edge procedures such as cell-free fetal DNA isolation from maternal blood are now available, invasive prenatal tests are still being used extensively for prenatal diagnosis. The study aims to evaluate the demographic data, indications, and cytogenetic results of 9297 results of patients who underwent prenatal invasive testing for genetic analysis that were referred for the last 20 years in a University Medical Genetics Center. Materials and methods: The records of 8363 amniocenteses, 626 chorionic villus, and 308 cordocenteses samples were retrospectively evaluated and analyzed regarding referral reasons, indications and their cytogenetic results. The total numbers and the percentages of each group were recorded; Chi-square and logistic regression analyses were performed to give the statistical likelihood of different events. Results: The number of referrals decreased significantly after 2009. Risk of having trisomy 21 as well as trisomy 13 and 18 significantly increased in parallel with advanced maternal age. When the 21­25 age group was compared to the older age groups in terms of having a trisomy 21 pregnancy, the risk doubled in the 36­40, 5 times higher in 41­45 and 10-fold in 46­50 age groups. No significant linear correlation between maternal serum screening test results and trisomy 21 was found, however the difference between the pregnancies whom cut-off value above and below 1/250 in maternal serum screening test were significant. Conclusion: These data have provided useful information on the frequency of referrals to the reference genetics department, and the feasibility of genetic services. By reviewing the indications and their corresponding results, we can offer invaluable insights that will be useful in genetic counseling and also in the development of more effective genetic strategies.


Asunto(s)
Aberraciones Cromosómicas , Síndrome de Down , Asesoramiento Genético/métodos , Diagnóstico Prenatal/estadística & datos numéricos , Adulto , Aneuploidia , Femenino , Genética Médica , Humanos , Persona de Mediana Edad , Embarazo , Estudios Retrospectivos , Turquía/epidemiología , Universidades
4.
Int J Gynaecol Obstet ; 154(2): 304-311, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33278833

RESUMEN

OBJECTIVE: To create a model for prediction of success of uterine-preserving procedures in women with placenta accreta spectrum (PAS). METHODS: PAS-ID is a multicenter study that included 11 centers from 9 countries. Women with PAS, who were managed between January 1, 2010 and December 31, 2019, were retrospectively included. Data were split into model development and validation cohorts, and a prediction model was created using logistic regression. Main outcome was success of uterine preservation. RESULTS: Out of 797 women with PAS, 587 were eligible. Uterus-preserving procedures were successful in 469 patients (79.9%). Number of previous cesarean sections (CS) was inversely associated with management success (adjusted odds ratio [aOR] 0.02, 95% confidence interval [CI] 0.001-3.63 with five previous CS). Other variables were complete placental invasion (aOR 0.14, 95% CI 0.05-0.43), type of CS incision (aOR 0.04, 95% CI 0.01-0.25 for classical incision), compression sutures (aOR 2.48, 95% CI 1.00-6.16), accreta type (aOR 3.76, 95% CI 1.13-12.53), incising away from placenta (aOR 5.09, 95% CI 1.52-16.97), and uterine resection (aOR 102.57, 95% CI 3.97-2652.74). CONCLUSION: The present study provides a prediction model for success of uterine preservation, which may assist preoperative and intraoperative decisions, and promote incorporation of uterine preservation procedures in comprehensive PAS protocols.


Asunto(s)
Placenta Accreta/cirugía , Placenta/cirugía , Útero/cirugía , Adulto , Cesárea , Femenino , Humanos , Histerectomía , Embarazo , Estudios Retrospectivos
5.
J Assist Reprod Genet ; 37(8): 2019-2024, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32440934

RESUMEN

PURPOSE: In this study, we aimed to compare the changes in the number, yield, and the percentage of karyotyping indications of the invasive prenatal diagnostic tests between the periods before and after cell-free fetal DNA was introduced to clinical use. METHOD: The number of invasive prenatal diagnostic procedures such as amniocentesis and chorionic villus sampling, indication percentages and karyotype results in the periods before (January 1, 2009-December 31, 2010), (n = 1412) and after (January 1, 2016-December 31, 2017), and (n = 593) the introduction of cell-free fetal DNA was retrospectively evaluated. RESULTS: When compared with the period before cell-free fetal DNA came into clinical use, the number of invasive prenatal diagnostic tests decreased by 58% while their yield was found to have increased (4.4% vs. 10.3%) in the period after cell-free DNA began to be used (p < 0.001). While there was a decrease in the indications due to advanced maternal age, an increase was found in ultrasonography indications for structural anomaly and the risk of a single-gene disorder (p < 0.001). Amniocentesis rate was found to have decreased in invasive prenatal diagnostic procedure types, while an increase was reported in CVS rates (p < 0.001). CONCLUSIONS: Invasive prenatal diagnosis gradually decreases over the years, but the yield of invasive prenatal diagnostic tests increases. In parallel with the rapid development of modern molecular technologies and cheaper and easier access to the tests, we think that the number of invasive prenatal diagnostic tests will experience a more dramatic decrease in the following years.


Asunto(s)
Ácidos Nucleicos Libres de Células/genética , Pruebas Diagnósticas de Rutina , Síndrome de Down/diagnóstico , Diagnóstico Prenatal , Adulto , Amniocentesis/métodos , Ácidos Nucleicos Libres de Células/aislamiento & purificación , Muestra de la Vellosidad Coriónica/métodos , Síndrome de Down/genética , Síndrome de Down/patología , Femenino , Feto/patología , Pruebas Genéticas , Humanos , Cariotipificación , Edad Materna , Embarazo , Estudios Retrospectivos , Centros de Atención Terciaria
6.
J Matern Fetal Neonatal Med ; 33(17): 3028-3034, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31288677

RESUMEN

Background: Renal transplantation not only prolongs survival but also improves quality of life and fertility, particularly in patients with end-stage renal disease. The aim of this study was to evaluate the renal and perinatal outcomes of pregnancy after renal transplantation at a high volume academic tertiary hospital.Methods: Fifty-one renal transplant patients (RTPs) who experienced pregnancy after transplantation and received care at Ege University Hospital between January 1995 and December 2017 were retrospectively identified. Data on demographics, comorbidities, and clinical perinatal outcomes were analyzed.Results: The median age of expectant mothers with renal transplantation was 30.51 ± 5.28 years (range 23-41). The mean interval between discontinuing birth control methods and the last menstrual period was 22 months. Preeclampsia occurred in six pregnancies (11.5%), and 43 of 52 pregnancies resulted in live births (82.6%). The mean gestational age at birth was 36.35 ± 2.36 weeks (range: 26-38). A total of 15 births were preterm deliveries (28.8%). Intrauterine growth retardation (IUGR) was detected in four cases. The mean birth weight was 2664.58 ± 613.99 g (range: 600-3.800 g). Twelve newborns were hospitalized in the neonatal intensive care unit (23%). A significant inverse correlation between birth weight and preconception serum creatinine level was found (p < .001; r = -0.532). An inverse correlation between the interval between transplantation and pregnancy and low postpartum serum creatinine level was established significantly (p < .05; r = -0.331). In addition, an inverse correlation between preconceptional serum creatinine and postpartum serum creatinine in the first year was found statistically significant (p < .001, r = -0.681).Conclusion: Even though pregnancy does not seem to adversely affect renal graft function, risks of perinatal as well as obstetrical complications should not be ignored. Pregnancies in RTPs should be followed closely by a multidisciplinary team of experts to minimize perinatal complications before and during pregnancy.


Asunto(s)
Trasplante de Riñón , Complicaciones del Embarazo , Adulto , Femenino , Humanos , Recién Nacido , Trasplante de Riñón/efectos adversos , Embarazo , Complicaciones del Embarazo/epidemiología , Resultado del Embarazo/epidemiología , Calidad de Vida , Estudios Retrospectivos , Centros de Atención Terciaria , Adulto Joven
7.
Balkan Med J ; 35(2): 163-166, 2018 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-29219113

RESUMEN

BACKGROUND: Down syndrome, which is the most common human chromosomal anomaly that can affect people of any race and age, can be diagnosed prenatally in most cases. Prenatal diagnosis via culture method is time-consuming; thus, genetic analysis has thus been introduced and is continually being developed for rapid prenatal diagnosis. For this reason, the effective use of microRNA profiling for the rapid analysis of prenatal amniotic fluid samples for the diagnosis of Down syndrome was investigated. AIMS: To evaluate the expression levels of 14 microRNAs encoded by chromosome 21 in amniotic fluid samples and their utility for prenatal diagnosis of Down syndrome. STUDY DESIGN: Case-control study. METHODS: We performed invasive prenatal testing for 56 pregnant women; 23 carried fetuses with Down syndrome, and 33 carried fetuses with a normal karyotype. Advanced maternal age and increased risk for Down syndrome in the screening tests were indications for invasive prenatal testing. The age of gestation in the study and control groups ranged between 17 and 18 weeks. The expression levels of microRNA were measured by real-time polymerase chain reaction. RESULTS: The expression levels of microRNA-125b-2, microRNA-155, and microRNA-3156 were significantly higher in the study group than in the control group. CONCLUSION: The presence of significantly dysregulated microRNAs may be associated with either the phenotype or the result of abnormal development. Further large-scale comparative studies conducted in a variety of conditions may bring novel insights in the field of abnormal prenatal conditions.


Asunto(s)
Líquido Amniótico/metabolismo , Síndrome de Down/diagnóstico , MicroARNs/análisis , Adulto , Estudios de Casos y Controles , Síndrome de Down/genética , Femenino , Humanos , Embarazo , Diagnóstico Prenatal
8.
J Matern Fetal Neonatal Med ; 31(1): 59-62, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-28027672

RESUMEN

OBJECTIVE: The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fßhCG) MoM values and placenta accreta in women who had placenta previa. STUDY DESIGN: A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta. As probable markers of excessive placental invasion, serum PAPP-A and fßhCG MoM values were compared in two groups with and without placenta accreta. RESULTS: Patients with placenta accreta had higher statistically significant serum PAPP-A (1.20 versus 0.865, respectively, p = 0.045) and fßhCG MoM (1.42 versus 0.93, respectively, p = 0.042) values than patients without accreta. CONCLUSIONS: Higher first trimester serum PAPP-A and fßhCG MoM values seem to be associated with placenta accreta in women with placenta previa. Further studies are needed to use these promising additional tools for early detection of placenta accreta.


Asunto(s)
Gonadotropina Coriónica Humana de Subunidad beta/sangre , Pruebas de Detección del Suero Materno , Placenta Accreta/sangre , Proteína Plasmática A Asociada al Embarazo/metabolismo , Adulto , Aneuploidia , Femenino , Humanos , Tamizaje Masivo , Embarazo , Estudios Retrospectivos
9.
Biomed Res Int ; 2016: 5312674, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27110565

RESUMEN

BACKGROUND: Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome. METHOD: A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR. RESULTS: Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome. CONCLUSION: Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies.


Asunto(s)
Síndrome de Down/diagnóstico , Síndrome de Down/genética , MicroARNs/biosíntesis , Diagnóstico Prenatal , Adulto , Cromosomas Humanos Par 21/genética , Síndrome de Down/patología , Femenino , Feto , Edad Gestacional , Humanos , Cariotipo , Edad Materna , MicroARNs/genética , Embarazo , Ultrasonografía Prenatal
10.
Kaohsiung J Med Sci ; 31(10): 518-22, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26520690

RESUMEN

Preeclampsia (PE) and intrauterine growth restriction (IUGR) are still among the most commonly researched titles in perinatology. To shed light on their etiology, new prevention and treatment strategies are the major targets of studies. In this study, we aimed to investigate the relation between gene polymorphism of one of the products of trophoblasts, pregnancy-associated plasma protein A (PAPP-A) and PE/IUGR.A total of 147 women (IUGR, n = 61; PE, n = 47; IUGR + PE, n = 37; eclampsia, n = 2) were compared with 103 controls with respect to the sequencing of exon 14 of the PAPP-A gene to detect (rs7020782) polymorphism. Genotypes "AA" and "CC" were given in the event of A or C allele homozygosity and "AC" in A and C allele heterozygosity. Our findings revealed that the rate of AA, CC homozygotes, and AC heterozygotes did not differ between groups. Moreover, there was no difference in the distribution of PAPP-A genotypes among the patients with IUGR, PE, IUGR + PE, or eclampsia. Finally, birth weight, rate of the presence of proteinuria, and total protein excretion on 24-hour urine were similar in the subgroups of AA, AC, and CC genotypes in the study group. Our study demonstrated no association between PAPP-A gene rs7020782 polymorphism and PE/IUGR.


Asunto(s)
Retardo del Crecimiento Fetal/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple/genética , Preeclampsia/genética , Proteína Plasmática A Asociada al Embarazo/genética , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Embarazo
11.
Fetal Diagn Ther ; 36(2): 166-72, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24192343

RESUMEN

OBJECTIVE: To evaluate the association between the brain-sparing situation and perinatal outcomes in fetuses with early-onset fetal growth restriction (EO-FGR) with absent or reverse end-diastolic flow in the umbilical artery (UA A/REDF). METHODS: We evaluated fetuses with EO-FGR who had patterns of UA A/REDF without abnormal venous Doppler indices. Participants were divided into two groups according to measurements of mid-cerebral artery pulsatility index (MCA PI) just before delivery. Group 1 (n = 45) included those with a brain-sparing effect (BSE) (a MCA PI <5th percentile for the gestational age) and group 2 (n = 14) included those with a disappearing BSE, defined as an MCA PI increase towards normal values after the BSE detected at the initial evaluation. Short-term perinatal outcomes were analyzed. RESULTS: Compared to group 1, group 2 had a significantly low birth weight (p = 0.018) and high rates of extended neonatal intensive care unit hospitalization (p = 0.049 respectively). CONCLUSION: On the basis of longitudinal measurements of MCA PI, increases after the reduction <5th percentile might be related to poor perinatal outcomes in fetuses with EO-FGR who had UA A/REDF without abnormal venous flow patterns.


Asunto(s)
Encéfalo/irrigación sanguínea , Retardo del Crecimiento Fetal/diagnóstico por imagen , Feto/irrigación sanguínea , Arteria Cerebral Media/diagnóstico por imagen , Arterias Umbilicales/diagnóstico por imagen , Adulto , Femenino , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , Resultado del Embarazo , Ultrasonografía Prenatal , Adulto Joven
12.
Pediatr Neonatol ; 54(4): 267-74, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23639744

RESUMEN

BACKGROUND: Chorioamnionitis is closely related to premature birth and has negative effects on neonatal morbidity and mortality. METHODS: In this prospective study, 43 mothers who delivered earlier than 35 gestational weeks and their 57 infants were evaluated clinically and with laboratory findings. Placentas and umbilical cords were investigated histopathologically for chorioamnionitis and funisitis. RESULTS: The overall frequency of clinical and histological chorioamnionitis (HCA) was 8.3% and 23.2%, respectively. The frequency of HCA was 47.3% and 83.3% in mothers delivered <32 weeks and <30 weeks, respectively. Maternal demographic and clinical findings and also leukocyte and C-reactive protein values were not indicative of HCA. Infants of mothers with HCA had significantly lower Apgar scores together with higher SNAP-PE-II and CRIB scores. These infants had increased mechanical ventilator and surfactant requirements, higher incidences of patent ductus arteriosus, early sepsis, and bronchopulmonary dysplasia, and higher mortality rates. The effect of HCA on neonatal morbidity and mortality was more prominent than the effect of low birthweight and lower gestational age. CONCLUSION: Chorioamnionitis not only causes premature deliveries, but is also associated with neonatal complications and increased mortality. Clinical findings and infectious markers in mother or infant do not predict the diagnosis of histological chorioamnionitis. Therefore, placental histopathology may have a role in predicting neonatal outcome in premature deliveries, especially those below 30 weeks.


Asunto(s)
Corioamnionitis/patología , Enfermedades del Prematuro/mortalidad , Enfermedades del Prematuro/patología , Recien Nacido Prematuro , Trabajo de Parto Prematuro/patología , Adulto , Puntaje de Apgar , Proteína C-Reactiva/análisis , Estudios de Casos y Controles , Corioamnionitis/mortalidad , Femenino , Rotura Prematura de Membranas Fetales/patología , Edad Gestacional , Humanos , Inmunohistoquímica , Recién Nacido , Enfermedades del Prematuro/fisiopatología , Recuento de Leucocitos , Masculino , Edad Materna , Trabajo de Parto Prematuro/mortalidad , Placenta/patología , Valor Predictivo de las Pruebas , Embarazo , Pronóstico , Estudios Prospectivos , Medición de Riesgo , Tasa de Supervivencia , Turquía , Cordón Umbilical/patología
13.
Turk J Pediatr ; 54(3): 230-3, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23094531

RESUMEN

The rubella vaccine is contraindicated in pregnancy. Between July and August 2009, the Turkish Republic Ministry of Health implemented a vaccine program to eradicate rubella in women in the reproductive period. In this program, many pregnant women were also vaccinated inadvertently. In this study, 62 pregnant women applied to our clinic who were vaccinated either during pregnancy or within one month before the last menstrual period. Seventeen of them were followed until the end of the pregnancy by fetal echocardiography and detailed ultrasonography. Rubella immunoglobulin (Ig) M and IgG antibodies were studied in the cord blood obtained at birth. All fetuses were examined by a pediatrician, an ophthalmologist and a pediatric cardiologist. A hearing test was also performed on all neonates. No signs of congenital rubella syndrome could be found.


Asunto(s)
Programas de Inmunización/organización & administración , Complicaciones Infecciosas del Embarazo/prevención & control , Síndrome de Rubéola Congénita/epidemiología , Síndrome de Rubéola Congénita/prevención & control , Vacuna contra la Rubéola/inmunología , Adolescente , Adulto , Ecocardiografía , Femenino , Pruebas Auditivas , Humanos , Recién Nacido , Masculino , Atención Preconceptiva , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Complicaciones Infecciosas del Embarazo/inmunología , Resultado del Embarazo , Prevalencia , Vacuna contra la Rubéola/efectos adversos , Turquía/epidemiología , Ultrasonografía Prenatal
14.
J Turk Ger Gynecol Assoc ; 13(2): 145-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-24592026

RESUMEN

Pentalogy of Cantrell is a heterogeneous and rare thoraco-abdominal wall closure defect with the estimated prevalence of 1/65.000 to 1/200.000 births. Supraumbilical midline wall defect (generally omphalocele), deficiency of the anterior diaphragm and diaphragmatic peritoneum, defect of the lower sternum and several intracardiac defects are the components of Cantrell pentalogy. Etiology is unknown but a defect on the lateral mesoderm during the early stage of pregnancy is the most accepted hypothesis. Nowadays both 2- dimensional (2D) and 3-dimensional (3D) sonography are commonly used in diagnosis. In our case, a fetus with 11 weeks of gestation was reported as Cantrell pentalogy during first trimester screening. Additionally, unilateral limb defect and lumbar lordoscoliosis were detected through 3D sonography. Pregnancy was terminated according to parental desire. Karyotype was 46 XY. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. Prognosis seems to be poor in patients with complete Cantrell syndrome and patients with associated anomalies. Termination is the choice of treatment. Early diagnosis gives us a chance to reduce maternal morbidity and mortality related to termination.

15.
Arch Gynecol Obstet ; 285(3): 635-9, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-21837429

RESUMEN

OBJECTIVE: The aim of this study was to investigate the effects of HbA1c levels and umbilical cord thickness upon birth weight, particularly in pregestational and gestational diabetic patients. METHOD: Pregnant women were included in the study and were divided into two groups. The first group consisted of patients who were diagnosed with pregestational or gestational diabetes mellitus. The control group consisted of pregnant women who were not diagnosed with pregestational or gestational diabetes mellitus. Ultrasound examination was performed twice. Examinations were performed at 27-28 weeks and 36-37 weeks of gestation, respectively. During ultrasound examinations, fetal anthropometric parameters, biparietal diameter, abdominal circumference, femur length and estimated fetal weight (which was calculated automatically according to Hadlock's formula) were measured. Additionally, the sonographic cross-sectional areas of the umbilical cord, the umbilical arteries and the umbilical vein were measured in a free loop of the umbilical cord, using the software of the ultrasound machine. The cross-sectional area of Wharton's jelly was computed by subtracting the cross-sectional area of the vessels from that of the umbilical cord. HbA1c levels were measured for diabetic patients. RESULTS: At 27-28 gestational weeks, umbilical cord area and Wharton's jelly values were found to be statistically different in macrosomic fetuses compared with non-macrosomic fetuses for both groups (for cord area, P = 0.012; for Wharton's jelly, P = 0.001). Additionally, umbilical cord diameter vein and artery values were not statistically different between the two groups when macrosomic fetuses were compared with non-macrosomic fetuses. At 36-37 gestational weeks, when the relationship between umbilical cord components and birth weight was examined, there was a statistically significant difference when comparing macrosomic fetuses with non-macrosomic fetuses. There was a statistically significant correlation between umbilical cord area, umbilical cord diameter and fetal weight estimation at 36-37 gestational weeks. HbA1c values and fetal macrosomia did not show a statistically significant relationship (P = 0.701). CONCLUSION: A significant relationship between umbilical cord components and birth weight was not specific for the diabetic group. There was a significant relationship between birth weight and umbilical cord components for the control group as well. If the estimated fetal weight is combined with umbilical cord components, macrosomic fetuses can be predicted with more accuracy.


Asunto(s)
Diabetes Gestacional/diagnóstico por imagen , Macrosomía Fetal/diagnóstico por imagen , Hemoglobina Glucada/metabolismo , Ultrasonografía Prenatal , Cordón Umbilical/patología , Adulto , Peso al Nacer , Diabetes Gestacional/epidemiología , Femenino , Macrosomía Fetal/epidemiología , Hemoglobina Glucada/análisis , Humanos , Incidencia , Embarazo , Arterias Umbilicales/diagnóstico por imagen , Cordón Umbilical/diagnóstico por imagen , Venas Umbilicales/diagnóstico por imagen , Gelatina de Wharton/anatomía & histología , Gelatina de Wharton/diagnóstico por imagen
16.
Eur J Pediatr ; 170(11): 1457-60, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21735053

RESUMEN

Intrauterine transfusion is the standard of care in the management of severe Rh isoimmunization. Desferrioxamine has been used for the treatment of iron overload secondary to hemolysis and intrauterine transfusions in Rh isoimmunization cases. Here, we report a preterm infant born at 34 weeks of gestational age who had formerly received intrauterine transfusions for Rhesus hemolytic disease and presented with severe hyperferritinemia and elevated liver enzymes in the first week of life. Desferrioxamine treatment was started due to a ferritin level of 28,800 ng/ml and continued for 13 weeks. Although the treatment was successful, we observed resistant leukopenia which resolved after the cessation of treatment. In conclusion, iron overload secondary to intrauterine transfusions can be treated successfully with desferrioxamine; however, neonatologists must be aware of the possible side effects of this drug which has been used in only a limited number of newborns.


Asunto(s)
Transfusión de Sangre Intrauterina/efectos adversos , Deferoxamina/uso terapéutico , Recien Nacido Prematuro , Sobrecarga de Hierro/tratamiento farmacológico , Isoinmunización Rh/complicaciones , Sideróforos/uso terapéutico , Deferoxamina/efectos adversos , Humanos , Recién Nacido , Sobrecarga de Hierro/etiología , Masculino , Neutropenia/inducido químicamente , Isoinmunización Rh/terapia , Sideróforos/efectos adversos
17.
J Turk Ger Gynecol Assoc ; 12(3): 186-8, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-24591990

RESUMEN

Caudal regression syndrome is a rare congenital malformation with varying degrees of early gestational developmental failure. It is also known as sacral agenesis or caudal dysplasia. The cause of this malformation is thought to be defects in neuralization around the 28th day of the gestational period. Although maternal uncontrolled diabetes, genetic predisposition and vascular hypoperfusion are the possible risk factors, actual pathogenesis is unclear. CRS is generally diagnosed at prenatal assessment, but also a varying number of newborns with some degree of anomaly may be presented. In our case, we diagnosed a caudal regression syndrome fetus early in the second trimester. Determination of the pathology early in the gestational age gives parents a chance for termination of pregnancy. Although diabetes mellitus is the major risk factor for CRS, as in our case, sporadic presentations may occur. So clinicians should consider CRS when CRL is shorter than expected and incomplete vertebral ossification is observed both in gray scala and 3D imaging ultrasonography.

18.
Fetal Diagn Ther ; 25(1): 58-61, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19202339

RESUMEN

OBJECTIVE: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007. METHODS: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons. Among the indications of prenatal cases, cystic hygroma was evaluated according to karyotype results. RESULTS: Twenty-three cases were Turner Syndrome in which 7 cases were detected to have mosaic pattern. The indications for prenatal diagnosis for the cases were cystic hygroma in 11 cases, missed abortion in 6 cases, advanced maternal age in 5 cases and positive screening test results in 1 case. Among 18 cases having cystic hygroma detected by ultrasonography, 8 cases (44.4%) were found to have a 45,X karyotype, 3 cases were found to be mosaic Turner syndrome (16.7%), 5 cases (27.7%) had normal karyotype, 1 case (5.6%) 47,XX,+13 and 1 case (5.6%) 47,XX,+21. CONCLUSION: The present study indicates the importance of cystic hygroma in prenatal diagnosis of Turner Syndrome and other aneuploidies.


Asunto(s)
Linfangioma Quístico/diagnóstico , Diagnóstico Prenatal , Síndrome de Turner/diagnóstico , Adolescente , Adulto , Aberraciones Cromosómicas , Femenino , Humanos , Incidencia , Linfangioma Quístico/complicaciones , Linfangioma Quístico/epidemiología , Embarazo , Derivación y Consulta , Síndrome de Turner/complicaciones , Síndrome de Turner/epidemiología
19.
Arch Gynecol Obstet ; 277(2): 109-14, 2008 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-17710429

RESUMEN

OBJECTIVE: The study was designed to determine the protein levels of vascular endothelial growth factor (VEGF) in the placenta biopsies of patients with preeclampsia and compare with normal controls. DESIGN: Prospective cohort study. METHODS: The placental biopsies were obtained from ten patients with preeclampsia and ten patients of control group at the time of delivery. Avidin-biotin-peroxidase immunohistochemistry was then performed to identify levels of VEGF protein within the tissue and a semi-quantitative method was devised to score the amount of staining present in the sample. Two histopathologists who were blinded to the groups were asked to score each sample for the intensity of staining and the number of cells stained in a randomly selected per high-power fields of each sample. The resulting "H-score" was computed as a product of intensity and percent of cells stained. RESULTS: The VEGF expression was significantly higher in placenta biopsies of preeclamptic patients compared to that of controls (271.2 +/- 22.65 vs. 201.9 +/- 12.33, P = 0.000). CONCLUSION: Immunostaining of VEGF is significantly higher in placenta biopsies of patients with preeclampsia.


Asunto(s)
Placenta/metabolismo , Placenta/patología , Preeclampsia/metabolismo , Factor A de Crecimiento Endotelial Vascular/metabolismo , Adulto , Biopsia , Estudios de Casos y Controles , Femenino , Humanos , Inmunohistoquímica , Microscopía , Embarazo , Estudios Prospectivos
20.
J Reprod Med ; 49(6): 487-90, 2004 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-15283060

RESUMEN

OBJECTIVE: To investigate the presence and distribution of type I insulinlike growth factor receptor (IGF-IR) in the cells of the chorioamniotic membrane and to search for any alterations occurring in IGF-IR expression in premature rupture of membranes (PROM) patients. STUDY DESIGN: Fetal membranes collected at delivery from 42 pregnancies between 36 and 40 gestational weeks were included in the study. Seventeen of 42 cases had premature rupture of membranes, and 25 cases had intact membranes prior to delivery. Paraffin sections of thefetal membranes were stained with IGF-IR antibody by the streptavidin-biotin-immunoperoxidase method. The staining was scored and compared statistically between PROM and control cases. RESULTS: The fetal membranes of PROM cases had significantly reduced IGF-IR expression in chorionic trophoblastic cells when compared with the control group (P = .006, X2). CONCLUSION: Our immunohistochemical findings revealed that chanlges in IGF-IR levels in choriolzic amniotic cells may play a pathogenetic role in PROM cases, but the mechanism is speculative and needs further investigation.


Asunto(s)
Rotura Prematura de Membranas Fetales/fisiopatología , Receptor IGF Tipo 1/biosíntesis , Adulto , Corion/citología , Femenino , Rotura Prematura de Membranas Fetales/complicaciones , Humanos , Inmunohistoquímica , Embarazo , Tercer Trimestre del Embarazo , Receptor IGF Tipo 1/análisis
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