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Background: The risks added by extended jugular lymphatic sacs (EJLS) to increased nuchal translucency (NT) including genetic and structural abnormalities and pregnancy outcomes have not been previously investigated, which this study aims to investigate. Methods: The data of 155 singleton pregnancies with increased fetal NT (≥95th percentile) of these 20 with fetal EJLS were evaluated retrospectively. Patients were stratified according to NT thickness such that ≥95th percentile - 3.5 mm, 3.6-4.4 mm, 4.5-5.4 mm, 5.5-6.4 mm, ≥6.5 mm, and grouped according to the presence of EJLS. Pregnancy outcomes, genetic and structural abnormalities were assessed by comparing EJLS with non-EJSL cases (n-EJLS). Results: Associated with NT, the incidence of the presence of EJLS increased with NT, from 4.5% at the ≥95th percentile - 3.5 mm to 30.8% when NT ≥5.5 mm. In the n-EJLS group, the proportion of fetuses with structural and genetic abnormalities increased as the measurement of NT increased. This correlation was not observed in the EJLS group. Compared to n-EJLS, cases with EJLS had a higher rate of fetal structural (38.5% vs. 75%, P = 0.003) and genetic (18.5% vs. 45%, P = 0.005) anomalies and a lower term live birth rate (59.3% vs. 15%, P < 0.001). Conclusion: The increasing rate of EJLS was seen as NT increased. Compared to n-EJLS, the EJLS cases had a higher rate poor pregnancy outcomes and fetal genetic and structural abnormalities.
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Background Preeclampsia (PE) is one of the highest-risk pregnancies and a complicated condition that occurs in 2% to 8% of pregnancies and is associated with markers of a systemic inflammatory response (SIR). In this study, we aimed to determine the role of these markers in predicting PE. Methodology A total of 300 women with singleton pregnancies and cephalic presentation were included in the study. Normotensive pregnant women (n = 149) who met this criterion were included as the control group Pregnant women who met the inclusion criteria for a diagnosis of preeclampsia (n = 151) were included in the study group. Results The baseline characteristics of the study groups showed no significant difference. The hypertensive group was hospitalized significantly earlier than the control group (p < 0.001). We found significantly higher systolic and diastolic blood pressure values in the PE group than in the other group (p < 0.001). The mean neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and aspartate aminotransferase-to-platelet ratio index (APRI) values at hospitalization did not differ significantly between groups (p = 0.639, p = 0.709, and p = 0.066, respectively). In the receiver operating characteristic analysis curves compared with the control group and PE, none of the parameters could predict PE. Conclusions We found that NLR, PLR, and APRI have no clinical significance in assessing developmental risk and predicting PE.
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Background: To evaluate cases diagnosed with fetal abdominal cyst diagnosed in prenatal period. Methods: We retrieved the cases diagnosed with fetal abdominal cyst between the years 2018 and 2020 from hospital's database. The localization, origin, dimensions, properties (simple or complex), and characteristics (solid, cystic, vascularity) were noted both in prenatal and postnatal period. We also tested the diagnostic performance of ultrasonography according to endpoint diagnosis revealed postnatally. Results: During the study period, a total of 29 cases diagnosed as fetal abdominal cyst. Of them, there were 11 (37.9%) gastrointestinal, 9 (31%) ovarian, 6 (20.6%) genitourinary, 3 (10.3%) hepatobiliary system cysts. In our study, we were able to identify 5 (45%) of 11 fetuses with postnatally confirmed gastrointestinal system cysts, 1 (33%) of 3 fetuses with hepatobiliary system cysts, 3 (50%) of 6 fetuses with urinary system cysts and 6 (66%) of 9 fetuses with ovarian cysts. Conclusion: In this study, the most common abdominal cyst was ovarian cysts. The most difficult to diagnose cysts are those that originated from gastrointestinal system and hepatobiliary system.
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OBJECTIVE: To study the value of fetal epicardial fat thickness (EFT) in gestational diabetes mellitus in the third trimester of pregnancy and its relationship with clinical parameters and perinatal outcomes. METHODS: A total of 80 participants, including 40 with diagnosed GDM and 40 healthy pregnant women, were included in the study. Demographic data were obtained from medical records. Sonographic examinations were performed, such as amniotic fluid value, fetal biometric measurements, and Doppler parameters of the umbilical artery. Fetal EFT values were measured at the free wall of the right ventricle using a reference line with echocardiographic methods. Correlation tests were performed to evaluate the relationship between fetal EFT and clinical and perinatal parameters. p < .05 were interpreted as statistically significant. RESULTS: The fetal EFT value was statistically higher in the GDM group than in the control group (p: .000). Spearman and Pearson correlation tests revealed statistically significant but weak positive correlations between fetal EFT value, 1-h 100-g OGTT, birth weight, and BMI (r: .198, p: .047; r: .395, p: .012; r: .360, p: .042, respectively). The optimal fetal EFT threshold for predicting GDM disease was found as 1.55 mm, with a specificity of 74.4% and sensitivity of 75.0%. Statistically significant differences between the two groups in umbilical artery Doppler resistance index (RI), pulsatility index (PI), and systolic/diastolic ratio (S/D) were not found (p: .337; p: .503; p: .155;). BMI and amniotic fluid volume were higher in the GDM group compared to the control group (p: .009; p < .01). CONCLUSION: This study demonstrated that increased fetal EFT may occur as a reflection of changes in glucose metabolism in intrauterine life. Future studies with larger series, including the study of neonatal metabolic parameters, will contribute to the understanding of the importance of fetal EFT in determining the metabolic status of the fetus.
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Diabetes Gestacional , Tejido Adiposo , Femenino , Feto , Humanos , Recién Nacido , Pericardio , Embarazo , Arterias UmbilicalesRESUMEN
OBJECTIVE: The aim of the present study was to evaluate the obstetric and perinatal outcomes in treated women who were diagnosed with non-gynecologic cancer and to compare these findings with pregnant women with no history of cancer. MATERIALS AND METHODS: This retrospective study was conducted on 21 pregnant women with non-gynecologic cancer who were in remission (study group) and 63 pregnant women with no history of cancer (control group). The women were admitted to the high-risk pregnancy clinic of Zekai Tahir Burak Women's Health Training and Research Hospital with a diagnosis of pregnancy and cancer between January 2010 and January 2015. Obstetric outcomes and demographic characteristics of the patients were recorded. Age, gravida, parity, abortus, body mass index (BMI), gestational week, smoking, mode of delivery, gestational weight, and perinatal outcomes were examined for each woman. RESULTS: The most common cancer types were thyroid (28.5%) and breast cancers (23.8%), which constituted just over half of the non-gynecologic cancer cases during pregnancy. The time elapsed after the diagnosis was 3.8±2.2 (1-9) years. No statistically significant differences were found between the two groups with regard to age, obstetric history, BMI, gestational week, smoking, and obstetric and perinatal outcomes (p>0.05). CONCLUSION: Negative perinatal outcomes in non-gynecologic cancer patients in remission were found to be within acceptable levels.
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AIM: Our aim was to assess the incidence and risk factors of the puerperal genital hematomas (PGH). METHODS: We retrospectively reviewed recorded cases of PGH at Zekai Tahir Burak Research and Training Hospital, Ankara, Turkey, between January 2010 and 2014. Next three patients were chosen as control group. RESULTS: There were 47 cases of PGH with an incidence of 1 in 762 deliveries. Patients with PGH were younger, more likely to be nulliparous and had a greater weight gain during pregnancy than the control group. Patients with PGH had a longer first and second stage of labor than the control group. Mediolateral episiotomy and operative delivery were more frequently performed in patients with PGH than the control group. Neonates born to mothers with PGH were heavier than the control group (3525 ± 428 versus 3325 ± 579; p = 0.031). In the logistic regression model, nulliparity (OR: 8.68, 95% CI = 2.96-25.3), instrumental delivery (OR: 7.96, 95% CI = 1.37-49.0) and mediolateral episiotomy (OR: 6.67, 95% CI = 2.61-17.1) were factors which had an independent impact on risk of PGH. CONCLUSIONS: Nulliparity, instrumental delivery and mediolateral episiotomy are the main risk factors for hematomas.
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Enfermedades de los Genitales Femeninos/epidemiología , Hematoma/epidemiología , Trastornos Puerperales/epidemiología , Adulto , Femenino , Humanos , Estudios Retrospectivos , Factores de Riesgo , Turquía/epidemiología , Adulto JovenRESUMEN
The purpose of this study is to investigate postprandial 1-h (PP1) and 2-h (PP2) blood glucose measurements' correlation with adverse perinatal outcomes. This prospective cohort study consisted of 259 women with gestational diabetes mellitus. During each antenatal visit, HbA1c and fasting plasma glucose (FPG) as well as plasma glucose at PP1 and PP2 were analyzed. There were 144 patients on insulin therapy and 115 patients on diet therapy. A total of 531 blood glucose measurements were obtained at different gestational ages between 24 and 41 gestational weeks. PP2 plasma glucose measurements (but not PP1) were positively correlated with fetal macrosomia. But on adjusted analysis, neither PP1 nor PP2 measurements predicted perinatal complications. In addition to PP1 and PP2, neither FPG nor HbA1c were able to predict perinatal complications or fetal macrosomia when controlled for confounding factors except for a positive correlation between fetal macrosomia and HbA1c in patients on diet therapy. Postprandial 1-h and postprandial 2-h plasma glucose measurements were not superior to each other in predicting fetal macrosomia or perinatal complications. Based on our findings, it can be concluded that both methods may be suitable for follow-up as there are no clear advantages of one measurement over the other.
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Glucemia/análisis , Diabetes Gestacional/sangre , Periodo Posprandial , Adulto , Peso al Nacer , Estudios de Cohortes , Femenino , Macrosomía Fetal/sangre , Macrosomía Fetal/diagnóstico , Edad Gestacional , Prueba de Tolerancia a la Glucosa/métodos , Humanos , Valor Predictivo de las Pruebas , Embarazo , Pronóstico , Factores de TiempoRESUMEN
OBJECTIVE: The present study aimed to investigate perinatal outcomes and to describe antenatal factors for development of preeclampsia (PE) in patients with isolated proteinuria in pregnancy. METHODS: This retrospective case control study consisted of patients with isolated proteinuria between 2009 and 2014. The patients were considered as gestational proteinuria (GP) (group 1, n: 35) if they remain normotensive. Patients who develop PE after onset of proteinuria were allocated into group 2 (n: 19). Perinatal outcomes of patients in each group were compared. Logistic regression analysis was performed to detect antenatal risk factors for PE. RESULTS: The rate of small for gestational age (SGA) fetuses was higher in patients with isolated proteinuria than control group. In the logistic regression model, maternal age and completed gestational weeks at onset of proteinuria decreased the risk of PE in multivariate analysis (OR: 0.849 (95% CI: 0.731-0.986), OR: 0.732 (95% CI: 0.594-0.902) respectively). Systolic BP at onset of proteinuria, however, was associated with an independently increased risk of PE (OR: 1.181 (95% CI: 1.046-1.333)). CONCLUSION: Maternal clinical characteristics, but not laboratory features may help to predict development of PE.
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OBJECTIVE: We aimed to investigate P wave characteristics in pregnant women with and without intrahepatic cholestasis of pregnancy (ICP). METHODS: In this case-control study, including 59 pregnant women with intrahepatic cholestasis and 28 with healthy uncomplicated pregnancies, electrocardiographic maximum (Pmax) and minimum (Pmin) P-wave durations and P-wave dispersion (Pd) parameters were investigated. RESULTS: While Pmin and Pd values were significantly lower in women both with mild and severe ICP when compared to healthy pregnant women (p < 0.001), there was no significant difference between mild and severe disease groups. CONCLUSION: Intrahepatic cholestasis predisposes to cardiovascular complications. P-wave durations and Pd constitute a recent contribution to the field of noninvasive electrocardiology. Our data clearly demonstrated that these parameters were significantly altered in pregnant women with ICP when compared to the normal ones. This important association can be used to screen for women with an increased risk to better target counseling on lifestyle modifications and to closer follow-up and management of women with a history of ICP.
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Enfermedades Cardiovasculares/diagnóstico , Colestasis Intrahepática/fisiopatología , Electrocardiografía , Complicaciones Cardiovasculares del Embarazo/diagnóstico , Complicaciones del Embarazo/fisiopatología , Adulto , Enfermedades Cardiovasculares/etiología , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Embarazo , Complicaciones Cardiovasculares del Embarazo/etiología , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: To investigate the relationship between crown-rump length (CRL) and birth weight, length and head circumference of the newborn. METHODS: From a database of delivery records of 12,000 pregnancies, we identified 999 women with singleton pregnancies who had no medical problems, a normal menstrual history and a first trimester ultrasound scan in which CRL had been measured. All of the pregnancies resulted in live births without evidence of chromosomal and congenital abnormalities. The population in this study was divided into three groups according to CRL measurement; Group A (smaller-than-expected CRL), Group B (normal CRL) and Group C (larger-than-expected CRL). RESULTS: The incidence of low birth weight infant was higher in Group A than in Group C (p = 0.010). The rate of small for gestational age (SGA) infants was similar between groups. The number of macrosomic or large for gestational age (LGA) infants was higher in Group C than Groups A and B. Both birth head circumference and length of infant were greater in Group C than Groups A and B. No significant difference for ponderal index value was observed between the groups (p = 0.927). CONCLUSION: The growth pattern in the first trimester affects neonatal birth weight and length symmetrically without changing the ponderal index.
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Peso al Nacer , Largo Cráneo-Cadera , Edad Gestacional , Adulto , Estatura , Estudios de Cohortes , Femenino , Macrosomía Fetal/epidemiología , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Embarazo , Primer Trimestre del Embarazo , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
AIMS: We aimed to investigate cholecystokinin (CCK) release in pregnant women with and without hyperemesis gravidarum (HG). MATERIAL AND METHODS: In this case-control study including 40 pregnant women with HG and 40 women with healthy uncomplicated pregnancies, serum CCK levels in addition to hematological, biochemical and hormonal parameters were investigated. RESULTS: Serum CCK values were found to be significantly lower in pregnant women with HG (P < 0.001). Additionally, while serum blood urea nitrogen and free thyroxine levels were significantly higher, sodium, potassium, and thyroid stimulating hormone levels were significantly lower in women with HG than in control women. No correlation was detected between CCK and other parameters like ketonuria and thyroid function tests. CONCLUSIONS: CCK release has been found to be halved in pregnant women with HG, which supports the hypothesis that gastrointestinal motility is increased in pregnant women with HG. A causal effect remains to be confirmed.
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Colecistoquinina/sangre , Hiperemesis Gravídica/sangre , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Nitrógeno/sangre , Potasio/sangre , Embarazo , Sodio/sangre , Tirotropina/sangre , Tiroxina/sangre , Adulto JovenRESUMEN
PURPOSE: To describe the risk factors and labor characteristics of Clavicular fracture (CF) and brachial plexus injury (BPI); and compare antenatal and labor characteristics and prognosis of obstetrical BPI associated with shoulder dystocia with obstetrical BPI not associated with shoulder dystocia. METHODS: This retrospective study consisted of women who gave birth to an infant with a fractured clavicle or BPI between January 2009 and June 2013. Antenatal and neonatal data were compared between groups. The control group (1300) was composed of the four singleton vaginal deliveries that immediately followed each birth injury. A multivariable logistic regression model, with backward elimination, was constructed in order to find independent risk factors associated with BPI and CF. A subgroup analysis involved comparison of features of BPI cases with or without associated shoulder dystocia. RESULTS: During the study period, the total number of vaginal deliveries was 44092. The rates of CF, BPI and shoulder dystocia during the study period were 0,6%, 0,16% and 0,29%, respectively. In the logistic regression model, shoulder dystocia, GDM, multiparity, gestational age >42 weeks, protracted labor, short second stage of labor and fetal birth weight greater than 4250 grams increased the risk of CF independently. Shoulder dystocia and protracted labor were independently associated with BPI when controlled for other factors. Among neonates with BPI whose injury was not associated with shoulder dystocia, five (12.2%) sustained permanent injury, whereas one neonate (4.5%) with BPI following shoulder dystocia sustained permanent injury (pâ=â0.34). CONCLUSION: BPI not associated with shoulder dystocia might have a higher rate of concomitant CF and permanent sequelae.
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Traumatismos del Nacimiento/etiología , Plexo Braquial/lesiones , Clavícula/lesiones , Parto Obstétrico , Distocia/fisiopatología , Lesiones del Hombro , Adulto , Distocia/epidemiología , Femenino , Fracturas Óseas/epidemiología , Fracturas Óseas/etiología , Humanos , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Versión Fetal/efectos adversos , Adulto JovenRESUMEN
OBJECTIVE: The aim of this study was to investigate the relationship between fetal Doppler parameters and bleeding at insertion points during amniocentesis. MATERIAL AND METHODS: This prospective study was conducted between July 2010 and February 2011. A total of 215 amniocentesis procedures were performed during this period. Five patients with Down syndrome were excluded from the study. The remaining 210 patients were divided into Group 1 (bleeding at insertion site) and Group 2 as a control group. One needle type was used for all patients. Umbilical artery resistance index (UARI), umbilical artery pulsatility index (UAPI), middle cerebral artery resistance index (MCARI), middle cerebral artery pulsatility index (MCA PI), and middle cerebral artery peak systolic velocity (MCAPSV) were measured immediately and before and after amniocentesis. RESULTS: Bleeding at the insertion point during amniocentesis did not significantly change the UARI (34% increase for Group 1 and 46.5% increase for Group 2, p=0.238), the MCARI (52% increase for Group 1 and 45% increase for Group 2, p=0.622), or the MCAPSV (37% increase for Group 1 and 49% increase for Group 2, p=0.199). UARI, MCARI, MCA PI, and MCAPSV were not significantly altered following amniocentesis in Groups 1 and 2. There was a significant increase in UAPI following amniocentesis only in Group 2. CONCLUSION: Bleeding during genetic amniocentesis did not change umbilical artery and middle cerebral artery Doppler parameters.
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INTRODUCTION: In this study, we aimed to investigate the relationship between neutrophil-to-lymphocyte ratio (NLR) and total bile acid (TBA) concentration in pregnant women with intrahepatic cholestasis of pregnancy (ICP). MATERIALS AND METHODS: Fasting and postprandial TBA, NLR, and aminotransferase (AST/ALT) levels in the blood samples of 65 pregnant women with intrahepatic cholestasis were examined in this prospective case-control study. Thirty-three of the patients had mild disease and 32 had severe disease; 70 healthy women in uncomplicated pregnancies served as the control group. RESULTS: Not only was the mean NLR elevated in the pregnant women with cholestasis when compared to the controls, but it also predicted the severity of the cholestasis. The correlation between fasting TBA and NLR was significant. COMMENTS: Although TBA is still the diagnostic standard, NLR can be used as an initial screening tool due to its high specificity.
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Ácidos y Sales Biliares/sangre , Colestasis Intrahepática/sangre , Neutrófilos , Complicaciones del Embarazo/sangre , Adulto , Alanina Transaminasa/sangre , Aspartato Aminotransferasas/sangre , Biomarcadores/sangre , Estudios de Casos y Controles , Colestasis Intrahepática/diagnóstico , Femenino , Humanos , Recuento de Leucocitos , Recuento de Linfocitos , Embarazo , Complicaciones del Embarazo/diagnóstico , Estudios Prospectivos , Sensibilidad y Especificidad , Adulto JovenRESUMEN
AIM: Behçet's disease (BD) is a rare, chronic, multisystemic disease of unknown cause. BD is characterized by mucocutaneous, ocular, vascular and central nervous system manifestations and is also associated with thrombogenicity. In this retrospective analysis we investigated the relation between gestation and BD. MATERIAL AND METHODS: This retrospective study consisted of 49 pregnancies in 24 patients with BD between January 2008 and June 2013. The following clinical and demographic data were obtained: maternal age, obstetric history, pregnancy outcome, and maternal and neonatal complications during pregnancy following diagnosis of BD. To avoid recall bias, the following data were collected only in the recent pregnancy of each patient: disease activity and use of medications during pregnancy. RESULTS: Sixty-three pregnancies occurred in this group and 52 of them were after the diagnosis. Mean age of the patients at diagnosis was 21.4 years. The duration of BD during pregnancy was 7.2 years. Fourteen patients (58.3%) had no symptoms during recent pregnancy. No change was observed in the disease activity during pregnancy in eight patients. Disease activity was aggravated in two patients. The rate of vascular complications was higher in pregnancies of patients with BD. The rates of stillbirth, pre-eclampsia, preterm delivery and intrauterine growth restriction did not differ between the groups. Perinatal mortality and neonatal intensive care unit admissions as well as low birthweight infants were also similar between groups. CONCLUSION: Patients with BD had a higher rate of vascular complications during pregnancy; however, other obstetric complications were not increased and neonatal outcomes were not negatively influenced by BD.
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Síndrome de Behçet/complicaciones , Complicaciones Cardiovasculares del Embarazo/etiología , Adolescente , Adulto , Niño , Femenino , Humanos , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Adulto JovenRESUMEN
AIM: Familial Mediterranean fever (FMF) is an autosomal recessive condition characterized by periodic attacks of fever, aseptic serositis and synovitis. In this study, we investigated maternal and neonatal outcomes in pregnant patients with FMF. METHODS: This retrospective study consisted of 46 pregnant patients with FMF who attended the perinatology clinic of Dr Zekai Tahir Burak Research and Training Hospital between January 2008 and December 2012. The following clinical and demographic data were obtained by reviewing the patients' medical records: maternal age, colchicine use during pregnancy, obstetric history, pregnancy outcome and maternal and neonatal complications during the current pregnancy. RESULTS: The patients with FMF had higher rates of premature rupture of membranes (PROM) and Cesarean delivery as well as low birth weight infants; however, rates of stillbirth, gestational diabetes, preeclampsia did not differ between the groups. Preterm delivery rates were higher in the study group, but this difference did not reach statistical significance. Patients with pregnancy complications had significantly more basal proteinuria than did patients without complications. Nine patients did not receive colchicine therapy in the previous or current pregnancies. Within this subgroup, four (44.4%) of the patients had a history of two or more previous miscarriages. However, there were only three cases (8.1%) of two or more miscarriages among 37 patients who received colchicine; this difference was statistically significant CONCLUSIONS: FMF leads to higher rates of PROM, recurrent miscarriage and preterm deliveries. Colchicine treatment is safe in pregnancy and may lead to a decreased miscarriage rate.
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Fiebre Mediterránea Familiar/epidemiología , Complicaciones del Embarazo/epidemiología , Resultado del Embarazo , Adolescente , Adulto , Colchicina/uso terapéutico , Fiebre Mediterránea Familiar/tratamiento farmacológico , Femenino , Humanos , Embarazo , Complicaciones del Embarazo/tratamiento farmacológico , Estudios Retrospectivos , Moduladores de Tubulina/uso terapéutico , Turquía/epidemiología , Adulto JovenRESUMEN
AIM: The aim of this retrospective study was to investigate the relation between perinatal complications in twin pregnancies and the combination of first-trimester maternal serum pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotrophin (ß-hCG) levels. MATERIAL AND METHODS: The study was conducted at the Perinatology Department of Baskent University between January 2005 and December 2011. In total, 104 patients with twin pregnancies were recruited. The association of first-trimester maternal serum-screening markers with perinatal complications was investigated for small-for-gestational-age (SGA) fetuses or intrauterine growth restriction (IUGR), preterm delivery (before 34 weeks of gestation), pregnancy-induced hypertension (PIH), and growth discordance between fetuses. RESULTS: Low serum PAPP-A (below 10th percentile) levels were not correlated with preterm labor, PIH, or IUGR in twin gestations. Elevated free ß-hCG levels (>90th percentile) were linked to increased rates of PIH and small-for-gestational-age fetuses or IUGR. CONCLUSION: Elevated first-trimester free ß-hCG was related to adverse pregnancy outcomes in twin pregnancies, whereas low PAPP-A levels were not linked to adverse pregnancy outcomes.
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Gonadotropina Coriónica Humana de Subunidad beta/sangre , Complicaciones del Embarazo/sangre , Embarazo Gemelar/sangre , Proteína Plasmática A Asociada al Embarazo/metabolismo , Adulto , Biomarcadores/sangre , Femenino , Humanos , Tamizaje Masivo , Embarazo , Primer Trimestre del Embarazo/sangre , Estudios RetrospectivosRESUMEN
BACKGROUND: Triple X syndrome is a relatively common sex chromosomal aneuploidy with an estimated incidence of one in every 1000 female births. There is considerable diversity in phenotypes among patients with triple X syndrome. Triple X syndrome has been shown to have associated abnormalities, with genitourinary malformations being the most consistent. Cystic hygroma (CH) is a lymphatic malformation that occurs because of the lack of development of communication between the lymphatic and the venous systems. CH has an incidence of 1 in every 6000-10,000 live births. CH is associated with a variety of conditions, including chromosomal aneuploidies and fetal malformations. CASE: We report a case of prenatally detected triple X syndrome with axillary CH as an isolated finding. The patient was referred because of a fetal cystic mass at the right axillary region. Amniocentesis revealed 47,XXX karyotype, and no additional abnormalities were detected prenatally or after abortion. CONCLUSION: This is a novel description of axillary CH associated with triple X syndrome.