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1.
Blood Adv ; 8(4): 1018-1029, 2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38206762

RESUMO

ABSTRACT: Data to guide evidence-based management of pregnant people with sickle cell disease (SCD) are limited. This international Delphi panel aimed to identify consensus among multidisciplinary experts for SCD management during pregnancy. The 2-round Delphi process used questionnaires exploring 7 topics (antenatal care, hydroxyurea use, transfusion, prevention of complications, treatment of complications, delivery and follow-up, and bottlenecks and knowledge gaps) developed by a steering committee. Thirteen panelists (hematologists, physiologists, obstetricians, maternal fetal medicine, and transfusion medicine physicians) from the United States, the United Kingdom, Turkey, and France completed the first survey; 12 panelists completed the second round. Anonymized responses were collected and summarized by a contract research organization (Akkodis Belgium). Consensus and strong consensus were predefined as 75% to 90% (9-10 of 12) and >90% (≥11 of 12) of panelists, respectively, agreeing or disagreeing on a response to a predefined clinical scenario or statement. In several areas of SCD management, consensus was achieved: experts recommended performing at least monthly multidisciplinary antenatal follow-up, administering prophylactic aspirin for preeclampsia prevention between gestational weeks 12 and 36, initiating prophylactic transfusion therapy in certain cases, or choosing automated red blood cell exchange over other transfusion methods for patients with iron overload or severe acute chest syndrome. No consensus was reached on several topics including the prophylactic aspirin dose, indications for starting infection prophylaxis, routine use of prophylactic transfusions, or use of prophylactic transfusions for preventing fetal complications. These recommendations could inform clinical care for patients with SCD who are pregnant in the absence of large clinical trials involving this population; the identified knowledge gaps can orient future research.


Assuntos
Síndrome Torácica Aguda , Anemia Falciforme , Humanos , Feminino , Gravidez , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Transfusão de Sangue/métodos , Hidroxiureia/uso terapêutico , Síndrome Torácica Aguda/terapia , Síndrome Torácica Aguda/complicações , Aspirina
2.
Ginekol Pol ; 2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37249265

RESUMO

OBJECTIVES: Placenta accreta spectrum (PAS) is usually treated by hysterectomy performed through a midline incision. We hypothesize that PAS surgery can be performed through a Joel-Cohen incision with adequate sight and safety. MATERIAL AND METHODS: The data on women having a hysterectomy due to PAS between 2013-2021 was collected retrospectively. Operation length, baby's pre-delivery general anesthesia exposure time, transfusion rates, complication rates, postoperative admission to the intensive care unit (ICU), postoperative hospital stay, and neonatal outcomes were collected. In addition, the data investigated whether the operation was performed under emergent conditions and in the early (2013-2016) or late (2017-2021) years. RESULTS: 161 patients met the inclusion criteria. The median gestational age at delivery was 34 weeks (27-39). The mean operation length was 150 minutes (75-420), and the anesthesia-to-delivery interval was 32 minutes (5-95). Twenty-three (14%) patients did not receive any blood product, 73 (45%) received less than three packs of erythrocyte, and only seven (4%) had a massive transfusion. Bladder injuries occurred in 24 (15%). Preoperative anemia, hypogastric artery ligation, transfusion, ICU admission, and maternal and neonatal complications were more frequent in emergent cases. Comparison between the early and late groups showed a decrease in the rate of anemia, maternal ICU admission, hypogastric artery ligation, and neonatal complications. In addition, infectious complications were relatively rare in all groups. CONCLUSIONS: The Joel-Cohen incision and bladder dissection before the baby's delivery reduce transfusion rates and avoid midline incision, which is prone to complications and unpleasant cosmetic appearance while performing a hysterectomy for PAS surgery.

3.
J Obstet Gynaecol ; 42(5): 946-950, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34704528

RESUMO

Isolated restrictive foramen ovale (rFO) without complex heart defects is a rare pathology. There may be difficulties in managing this situation, which can lead to right heart enlargement, tricuspid regurgitation and hydrops findings in the foetus. We conducted a retrospective analysis of 8451 foetuses. 7883 (93.2%) had a structurally normal heart or minor heart disease, 18 (0.22%) of which had a diagnosis of isolated rFO. Nine patients with neonatal echocardiographic examination were included in the study. In 8 (88.8%) patients, it was stated that a decision to give birth should be made at the time of presentation. Evaluating postpartum echocardiographic examinations, 7 (77.7%) patients had normal or minor defects. The decision of delivery made at the right time during follow-up is critical to determine the prognosis.IMPACT STATEMENTWhat is already known on this subject? The data about the prenatal diagnosis of isolated rFO is limited.What the results of this study add? We conducted a retrospective analysis of 8451 foetuses. 7883 (93.2%) foetuses had a structurally normal heart or minor heart disease, 18 (0.22%) of which had a diagnosis of rFO. Nine patients with foetal and postnatal follow-up and echocardiographic findings were examined in the study. The group's median gestational age at admission was 35.0 weeks (range: 27.0-39.0 weeks). The delivery decision was made in 8 (88.8%) patients at the time of admission. Evaluating postpartum echocardiographic examinations, 7 (77.7%) patients had normal or minor defects. Additionally, one patient was diagnosed with cardiomyopathy, and the other patient was diagnosed with functional pulmonary atresia. No death occurred in any foetus during follow-up.What the implications are of these findings for clinical practice and/or further research? Isolated rFO, a rare condition in the foetus, is generally well-tolerated in foetal life. However, the right heart enlargement, tricuspid regurgitation, or hydrops findings can be seen in patients. The decision of delivery made at the right time during follow-up is critical to determine the prognosis.


Assuntos
Forame Oval , Cardiopatias Congênitas , Insuficiência da Valva Tricúspide , Cardiomegalia , Ecocardiografia , Edema , Feminino , Coração Fetal/diagnóstico por imagem , Forame Oval/diagnóstico por imagem , Humanos , Recém-Nascido , Gravidez , Estudos Retrospectivos , Insuficiência da Valva Tricúspide/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos
4.
Ginekol Pol ; 2021 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-33914334

RESUMO

OBJECTIVES: To evaluate the perinatal outcomes of antenatally diagnosed omphalocele cases. MATERIAL AND METHODS: This was a retrospective study conducted between July 2014 and February 2020 at the prenatal diagnosis center of a university clinic. Gestational week of diagnosis, associated anomalies, karyotype analysis results, complications during pregnancy, termination/delivery characteristics, and postnatal results were evaluated. RESULTS: The analysis was performed on 58 patients. The median diagnosis time was 14.5 weeks of gestation. Thirty-three cases (57%) were defined in the first trimester. 33 (57%) of 58 patients had one or more concomitant anomalies, while 25 patients (43%) had isolated omphalocele. The most common associated anomaly was a cardiac anomaly which was observed in 17 fetuses (30% of all omphalocele cases). Karyotype analysis was performed in forty-five patients (41 in the prenatal period, 4 in the postnatal period). A normal karyotype was detected in 27 cases (60%). Trisomy 18 was the most common chromosomal anomaly (n = 15, 33.3%). Thirty of 58 patients (52%) requested termination of pregnancy (TOP) in the early pregnancy period. Thirteen of the cases died in-utero (22%). Fifteen pregnancies resulted in live births (26%), of those eight were lost in the first year of life (six of them had additional anomalies, while two of them had isolated omphalocele but the omphalocele pouch was containing the liver in those two babies). CONCLUSIONS: Most of the cases with an omphalocele can be diagnosed in the first trimester. Cardiac anomalies were the most common associated anomalies, while trisomy 18 is the most common chromosomal anomaly. Thus, earlier and effective counseling can be made about the prognosis of pregnancy.

5.
Turk J Med Sci ; 51(2): 657-660, 2021 04 30.
Artigo em Inglês | MEDLINE | ID: mdl-33197157

RESUMO

Background/aim: The aim of this study was to summarize the experiences of a single medical center for genetic diagnosis and treatment of prenatal patients. Materials and methods: This study includes a retrospective data analysis of 2843 prenatally investigated cases using invasive methods during a 6-year period (2013­2019) at a single tertiary care center. Results: Chromosomal abnormalities were detected in 80 out of 1221 amniotic fluid samples;,178 out of 1608 chorionic villus samples, and 1 out of 14 cordocentesis samples. The most common chromosomal abnormality was trisomy 21. At least one mutation was detected in 63 of the 152 molecular tests performed on fetuses. Conclusion: Clinical procedures such as ultrasounds and genetic tests are able to provide a better clinical follow-up for pregnant women about the possible congenital anomalies or any genetic condition, with proper genetic counseling and testing methodology.


Assuntos
Aconselhamento Genético , Genética Médica , Diagnóstico Pré-Natal , Adulto , Idoso , Aberrações Cromossômicas , Citogenética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Estudos Retrospectivos , Universidades
6.
Comput Methods Programs Biomed ; 198: 105787, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33080492

RESUMO

BACKGROUND AND OBJECTIVES: Spina bifida is a fetal spine defect observed during pregnancy. The defect is caused by unfinished closure of the embryonic neural column. Common diagnosis of the defect is still based on manual examination which aims to detect any deformation on spinal axis. This study proposes a novel evolutionary method for locating spinal axis on sonograms of spina bifida pathology. METHODS: The method involves a meta-heuristic evolutionary approach, where the sonogram is automatically divided into columns and bone regions belonging to the spine are classified. Accordingly, a specific genetic algorithm is utilized which constructs a set of candidate spine axes. Fitness of the candidate axes is measured by a proposed problem-specific fitness function. A combination of conventional genetic operators and a novel energy minimization approach is applied to each population in order to explore the problem search space. RESULTS: Results show that presented algorithm is generally able to distinguish the spinal bones from others even in the presence of severe morphological defects. CONCLUSION: It is observed that the presented approach is promising and in most samples the spines identified by the proposed algorithm closely match those drawn by the experts. A computer assisted ultrasound diagnosis system specialized for spina bifida cases does not exist yet, but an algorithm to identify the spine, such as the one presented in this work, is the first natural step towards a diagnosis system. In the future, we intend to improve the algorithm by improving the segmentation stage and further optimizing the various stages of the genetic algorithm.


Assuntos
Disrafismo Espinal , Diagnóstico por Computador , Feminino , Feto , Humanos , Gravidez , Disrafismo Espinal/diagnóstico por imagem , Coluna Vertebral/diagnóstico por imagem , Ultrassonografia
7.
Turk J Obstet Gynecol ; 17(3): 170-174, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33072420

RESUMO

OBJECTIVE: To evaluate sacrococcygeal teratoma (SCT) cases according to associated cardiac, extracardiac, and chromosomal anomalies in the prenatal period, and to review their outcomes. MATERIALS AND METHODS: Data of pregnancies with a prenatal diagnosis of SCT between 2009 and 2019 were retrospectively reviewed. RESULTS: One ongoing pregnancy was excluded. There were five medically terminated cases, three due to severe heart failure and the remaining two due to additional congenital defects. Two infants who had heart failure due to hyperdynamic flow died in the neonatal period. Nine infants are well and alive at the time of writing. CONCLUSION: When a lesion is detected in the sacrococcygeal region during fetal sonography, the differential diagnosis should be made with an appropriate evaluation with emphasis on a possible diagnosis of fetal SCT. Tumor growth and heart failure should be monitored with serial scans when SCT has been diagnosed prenatally.

8.
Clin Case Rep ; 8(9): 1719-1721, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32983484

RESUMO

The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.

9.
Sci Rep ; 10(1): 9280, 2020 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-32518381

RESUMO

Spina bifida is a birth defect caused by incomplete closing around the spinal cord. Spina bifida is diagnosed in a number of different ways. One approach involves searching for a deformity in the spinal axis via ultrasound. Although easy to apply, this approach requires a highly trained clinician to locate the abnormality due to the noise and distortion present in prenatal ultrasound images. Accordingly, visual examination of ultrasound images may be error prone and subjective. A computerized support system that would automatically detect the location of the spinal deformity may be helpful to the clinician in the diagnostic process. Such a software system first and foremost would require an algorithm for the identification of the entire (healthy or unhealthy) spine in the ultrasound image. This paper introduces a novel flocking dynamics based approach for reducing the size of the search space in the spine identification problem. Proposed approach accepts bone-like blobs on the ultrasound images as bird flocks and combine them into bone groups by calculating the migration path of each flock. Presented results reveal that the method is able to locate correct bones to be grouped together and reduce search space (i.e. number of bones) up to 68%.


Assuntos
Interpretação de Imagem Assistida por Computador/métodos , Diagnóstico Pré-Natal/métodos , Espinha Bífida Cística/diagnóstico , Medula Espinal/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Algoritmos , Diagnóstico por Computador , Feminino , Humanos , Aprendizado de Máquina , Gravidez , Espinha Bífida Cística/diagnóstico por imagem
10.
Turk J Obstet Gynecol ; 16(1): 23-28, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31019836

RESUMO

OBJECTIVE: To evaluate persistent left superior vena cava (PLSVC) cases according to associated cardiac, extracardiac, and chromosomal anomalies in the prenatal period and to review their outcomes. MATERIALS AND METHODS: The data of patients with a prenatal diagnosis of PLSVC between January 2013 and December 2017 were reviewed retrospectively. RESULTS: Data of 32 cases were reviewed. Nineteen (60%) cases were associated with cardiac defects, 5 (15%) were associated with both cardiac and extracardiac defects, and 8 (25%) had no associated anomalies. Two fetuses had karyotype anomalies. All patients with isolated PLSVC survived. Among the cases associated with extracardiac anomalies, cardiac anomalies, and with both extracardiac and cardiac anomalies, the survival rate was 40%, 40%, and 25%, respectively. Outcome was more favorable in cases with isolated PLSVC (100% vs. 40%). CONCLUSION: Prenatally diagnosed PLSVC is associated with cardiac and extracardiac anomalies in the majority of cases. The prognosis is good in isolated cases, but worsens when accompanied by cardiac or extracardiac anomalies.

11.
J Turk Ger Gynecol Assoc ; 19(3): 142-145, 2018 08 06.
Artigo em Inglês | MEDLINE | ID: mdl-29545234

RESUMO

Objective: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomic screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with careful examination. Material and Methods: This was a descriptive study of retrospective data that were obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department. The study was based on a chart review and only abnormalities that were diagnosed before the 16th week were included. Results: Two hundred forty-four first trimester pregnancy terminations were performed. In total, 273 anomalies were detected in the 244 patients. Cranial NTD comprised 32% of all anomalies (n=89). Fifteen percent of anomalies (n=41) needed detailed anatomic scanning for early diagnosis. Conclusion: In this study, we presented the number and percentage of our early diagnosed anomalies by years, as well showed our diagnostic performance for specific anomalies such as atrioventricular septal defect during a 5-year period. The study provides valuable information for future studies in Turkey and shows the need for an anatomic scan protocol while performing aneuploidy screening during early gestation.

12.
Turk Pediatri Ars ; 53(4): 214-221, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30872923

RESUMO

AIM: To evaluate the effect of umblical cord clamping time on lymphocyte subgroups in term and late preterm infants. MATERIAL AND METHODS: Seventy-four infants between 34 and 41 weeks of gestation were included in the study. Of these, 37 were umbilical cord clamped immediately after birth and the remaining 37 were clamped after waiting one minute. Babies were divided into two groups as term and preterm. The prenatal, natal, postnatal characteristics of the infants were recorded. Hematologic and lymphocyte subgroups were investigated in cord blood and venous blood at day 7. Lymphocyte subgroups were evaluated using flow cytometry. RESULTS: With the delay of cord clamping, the leucocytes count and the percentage of CD3+T lymphocytes in cord blood of preterm infants decreased and this decrease continued at day 7. On the contrary, CD19+B lymphocyte levels in the cord blood of preterm infants increased, and this increase continued at day 7. Also, the percentage of CD4+T lymphocytes of preterm infants decreased with the delay of cord clamping at day 7. There was no difference between groups for the rate of sepsis development. CONCLUSION: With the delay of cord clamping, the leucocytes count, the percentage of CD3+T, and CD4+T lymphocytes decreased, and the percentage of CD19+B lymphocytes increased in preterm infants. The delay in cord clamping time in term and preterm infants seems to have no impact on the rate of sepsis development. Larger series of studies are needed to assess the effect of these findings on the development of infection in late preterm infants who have delayed cord clamping.

13.
J Anesth ; 32(1): 90-97, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29243058

RESUMO

PURPOSE: Spinal anesthesia-induced hypotension (SAIH) during cesarean delivery is not rare and frequently leads to materno-fetal discrepancy and collapse. More recently, norepinephrine has been proposed for the prevention and treatment of SAIH with fewer tendencies to decrease heart rate and cardiac output. Ondansetron has been reported to reduce the incidence of SAIH in patients undergoing cesarean section. The aim of the present study was to assess the effect of prophylactic ondansetron on the incidence of SAIH, norepinephrine consumption, and adverse effects. METHODS: We recruited 108 parturients with uncomplicated pregnancies undergoing elective cesarean delivery under spinal anesthesia. The parturients were divided into two groups randomly. The first group (n = 54) received 8 mg ondansetron IV (group O) and the second group (n = 54) received the same volume (4 ml) of saline (group S), 5 min before spinal anesthesia. The incidence of hypotension, cumulative episodes of hypotension, total norepinephrine consumption, and adverse effects were recorded. RESULTS: There was no significant difference between the two groups in demographic data, parturient characteristics, and duration of surgery. No significant difference was found in the incidence of hypotension in the saline and ondansetron groups (p = 0.767). However, the cumulative episodes of hypotension and norepinephrine consumptions were significantly greater in group S than in group O (p = 0.009) (p = 0.009). There was also no significant difference in the incidence of adverse effects between the two groups. CONCLUSION: Eight milligrams of intravenous ondansetron given 5 min before spinal anesthesia attenuated but did not prevent spinal anesthesia-induced hypotension in parturients undergoing elective cesarean delivery.


Assuntos
Raquianestesia/métodos , Cesárea/métodos , Norepinefrina/administração & dosagem , Ondansetron/administração & dosagem , Administração Intravenosa , Adulto , Anestesia Obstétrica/métodos , Débito Cardíaco , Método Duplo-Cego , Feminino , Frequência Cardíaca , Humanos , Hipotensão/epidemiologia , Gravidez , Estudos Prospectivos , Adulto Jovem
14.
J Obstet Gynaecol Can ; 39(10): 854-860, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28647444

RESUMO

OBJECTIVE: The predictive value of spot urine protein-to-creatinine ratio (PCR) for estimating total 24-hour proteinuria in severe preeclampsia is unclear. This study aimed to assess the diagnostic accuracy of spot urine PCR for ascertaining the magnitude of proteinuria in women with preeclampsia of varying severity. METHODS: A total of 205 patients with prediagnosed preeclampsia were included in this prospective cohort study. Patients were allocated into one of the three groups categorized by severity of disease, as follows: gestational hypertension, group 1 (n = 41); preeclampsia, group 2 (n = 88); and severe preeclampsia, group 3 (n = 76). We assessed the spot urine PCRs to determine significant proteinuria and the magnitude of proteinuria in these groups. RESULTS: The spot urine PCR was 0.53, with 81% sensitivity and 93% specificity to detect significant proteinuria. A significant correlation was found between PCR and 24-hour total proteinuria in group 1 (r = 0.473, P = 0.002). There were also significant correlations in group 2 (r = 0.814, P < 0.001) and group 3 (r = 0.912, P < 0.001). The established formula using spot urine PCR to estimate 24-hour total proteinuria in severe preeclampsia was Y = 832.02X + 378.74 mg (r2 = 0.8304). CONCLUSION: Although 24-hour urine collection remains a merely reliable test to determine the degree of total proteinuria, our findings suggest that it is likely to assess the magnitude of proteinuria by the spot urine PCR, especially in severe preeclampsia. CLINICAL TRIAL REGISTRATION: www.clinicaltrials.govNCT01623791.


Assuntos
Pré-Eclâmpsia/urina , Proteinúria/etiologia , Adolescente , Adulto , Creatinina/urina , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Estudos Prospectivos , Proteinúria/urina , Sensibilidade e Especificidade , Adulto Jovem
16.
J Pediatr Endocrinol Metab ; 29(7): 863-6, 2016 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-27089410

RESUMO

Although propionic acidemia (PA) is a devastating inherited metabolic disease, with early diagnosis and advanced treatment strategies prognosis gets better and girls can survive to child-bearing ages. We share the detailed follow-up data of the pregnancy, successful labor with cesarean section and a healthy baby of a Turkish patient with PA.


Assuntos
Lactação , Metilmalonil-CoA Descarboxilase/genética , Mutação , Complicações na Gravidez/genética , Acidemia Propiônica/genética , Adulto , Cesárea , Desenvolvimento Infantil , Dieta Vegetariana , Feminino , Homozigoto , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Gravidez , Complicações na Gravidez/dietoterapia , Complicações na Gravidez/fisiopatologia , Acidemia Propiônica/dietoterapia , Acidemia Propiônica/fisiopatologia , Nascimento a Termo , Turquia
17.
J Matern Fetal Neonatal Med ; 29(8): 1314-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26067264

RESUMO

OBJECTIVE: To compare the safety and efficacy of two misoprostol regimens for mid-trimester pregnancy terminations. METHODS: Retrospective analysis of 263 cases of pregnancy terminations with misoprostol between 12 and 24 weeks was performed. Group 1 (total 129 patients) consisted of patients who were given 200 mcg vaginal misoprostol every 4 h until the abortion, whereas Group 2 patients (total 134 patients) were given misoprostol as in International Federation of Gynecology and Obstetrics's (FIGO) 2012 recommendation. In case of a previous cesarean section doses were halved in both groups. Primary outcomes of the study were the time to abortion and the total drug dose used. Secondary outcome was the rate of complications. RESULTS: Total dose and time to abortion did not differ between the groups. As for complications, one patient (%0.8) in group 1 developed HELLP syndrome and had hysterotomy. One patient (%0.8) in group 2 had uterine rupture and had total hysterectomy. Two patients in both groups considered failure of induction and terminated with surgery (hysterotomy). Groups did not show difference in induction failure rates. CONCLUSIONS: We respect the presence of dose recommendation stated by the FIGO and found similar results with our recent protocol. Other misoprostol regimens used worldwide should also be compared with this guideline in order to improve its efficacy.


Assuntos
Abortivos não Esteroides/administração & dosagem , Aborto Induzido , Misoprostol/administração & dosagem , Adolescente , Adulto , Estudos de Casos e Controles , Relação Dose-Resposta a Droga , Feminino , Humanos , Guias de Prática Clínica como Assunto , Gravidez , Segundo Trimestre da Gravidez , Estudos Retrospectivos , Adulto Jovem
18.
Turk J Obstet Gynecol ; 13(2): 75-79, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28913096

RESUMO

OBJECTIVE: To evaluate fetal aortic Doppler for the prenatal diagnosis of hemoglobinopathies in the first trimester of pregnancy. MATERIALS AND METHODS: Between January and November 2014, a total of 108 patients were enrolled in the study. The couples were carriers of either alpha/beta thalassemia, sickle cell disease or combined carriers of these and were admitted to Çukurova University Faculty of Medicine, Department of Obstetrics and Gynecology Prenatal Diagnosis Center. One hour before the chorionic villus sampling (CVS), patients were evaluated using fetal aortic Doppler. Pulsatility index, peak systolic velocity, and heart rate were noted. RESULTS: There were no statistically significant differences in Doppler indices between different groups of CVS results when compared with the healthy controls. CONCLUSION: Fetal aortic Doppler investigation was found to be ineffective for the prenatal diagnosis of hemoglobinopathies.

19.
Turk J Obstet Gynecol ; 13(3): 158-160, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28913113

RESUMO

Pectus excavatum (PE) is the depression of the lower part of manubrium sterni and xiphoid process. The main problem of PE depends on the cardiopulmonary morbidity caused by the narrowing of the thoracic space. To date, prenatal diagnosis of this deformity has been reported only once and was associated with Down syndrome. We present another case which we diagnosed as PE during a second-trimester fetal anatomic scan. The pectus severity index is used for these patients in postnatal life; however, prenatal adaption of this index is reported for the first time in our case.

20.
Turk J Pediatr ; 58(4): 419-423, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28276217

RESUMO

Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life.


Assuntos
Artérias/patologia , Difosfonatos/uso terapêutico , Diester Fosfórico Hidrolases/genética , Pirofosfatases/genética , Calcificação Vascular/genética , Ecocardiografia , Feminino , Humanos , Lactente , Recém-Nascido , Mutação
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