RESUMEN
OBJECTIVE: MTHFR C677T polymorphism is a genetic factor increasing both risk factors for atherosclerotic vascular diseases and obstetric complications like preeclampsia (PE) and fetal growth restriction (FGR). Increased uterine artery impedance, measured by uterine artery Doppler in the second trimester of pregnancy is also associated with PE and FGR. In this study we aimed to analyze whether MTHFR influences first and second trimester uterine artery impedance. STUDY DESIGN: In a prospective, controlled, open, single center study of 1955 consecutive singleton pregnant women, smears from buccal gingival cells were analyzed for MTHFR by hybridisation on micro arrays. Uterine artery PI values and unilateral or bilateral diastolic notch were measured at 12 and 22 weeks of gestation. Statistical significance was calculated by the x(2)-test. RESULTS: MTHFR C677T polymorphism showed a normal distribution in our population. Mean uterine artery Doppler values and bilateral or unilateral notch occurrences from 1697 statistical evaluated women did not show significant differences in any MTHFR genotype (C/C, C/T, T/T) both at 12 or 22 weeks of gestation. CONCLUSION: In summary, the data presented in this adequately powered, prospective, controlled study establish that the MTHFR C677T polymorphism does not influence Doppler flow measurements.
Asunto(s)
Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Embarazo/fisiología , Flujo Sanguíneo Regional , Útero/irrigación sanguínea , Femenino , Humanos , Polimorfismo de Nucleótido Simple , Primer Trimestre del Embarazo/fisiología , Segundo Trimestre del Embarazo/fisiología , Estudios Prospectivos , Ultrasonografía Doppler en Color , Útero/diagnóstico por imagenRESUMEN
OBJECTIVE: To investigate the frequency of the interleukin-10 (IL-10)-1082 G/A single nucleotide polymorphism in women with intrauterine fetal death (IUFD), pre-eclampsia (PE), preterm delivery (PD), and small for gestational age (SGA) infants. METHODS: In a prospective cohort study, DNA from 1,616 consecutive pregnant women was analyzed for IL-10 -1082 G/A by polymerase chain reaction. Women who developed at least one of the predefined pregnancy complications were used as cases and compared to women without pregnancy complications. RESULTS: Of 1,616 women, 254 (15.7%) developed at least one pregnancy complication. IL-10 -1082 G/A allele frequencies (G: 233/508 [45.9%] and A: 275/508 [54.1%] versus G: 1,143/2,724 [42.0%] and A: 1,581/2,724 [58.0%], respectively; p=0.10; OR 0.85; 95% CI 0.69-1.04) and genotype distributions (A/A+G/A: 201/254 [79.1%] and G/G 53/254 [20.9%] versus A/A+G/A: 1,125/1,362 [82.6%] and G/G 237/1,362 [17.4%], respectively, p=0.19; OR 0.79; 95% CI 0.54-1.15) were not significantly different between cases and controls. We observed no statistically significant difference in IL-10 -1082 G/A genotype distribution comparing controls and women with IUFD, PE, PD <37 weeks gestation, and SGA infants (<10th percentile). CONCLUSION: IL-10 -1082 G/A polymorphism is not a genetic marker for identifying women at increased risk of common pregnancy complications.
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Interleucina-10/genética , Polimorfismo de Nucleótido Simple , Complicaciones del Embarazo/genética , Biomarcadores , Femenino , Muerte Fetal/genética , Frecuencia de los Genes , Humanos , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Preeclampsia/genética , Embarazo , Resultado del Embarazo , Nacimiento Prematuro/genética , Estudios Prospectivos , Factores de RiesgoRESUMEN
PROBLEM: To investigate the frequency of the interleukin-6 (IL-6) -174 G/C single nucleotide polymorphism (SNP) in women with intrauterine fetal death (IUFD), pre-eclampsia (PE), preterm delivery (PD), and small for gestational age (SGA) infants. METHOD OF STUDY: In a prospective cohort study, DNA from 1626 consecutive pregnant women was analyzed for IL-6 -174 G/C. Women who developed at least one of the predefined pregnancy complications were used as cases and compared with women without pregnancy complications. RESULTS: Of 1626 women, 259 (15.9%) developed at least one pregnancy complication. IL-6 -174 G/C allele frequencies and genotype distributions were not significantly different between cases and controls. Similarly, no statistically significant difference in IL-6 -174 G/C genotype distribution in women with IUFD, PE, PD <34 weeks, PD >34 weeks and SGA infants <10th percentile was observed. CONCLUSION: IL-6 -174 G/C is not a genetic marker for identifying women at increased risk of common pregnancy complications.
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Interleucina-6/genética , Polimorfismo de Nucleótido Simple/genética , Complicaciones del Embarazo/genética , Regiones Promotoras Genéticas/genética , Adulto , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Muerte Fetal/genética , Frecuencia de los Genes , Humanos , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Preeclampsia/genética , Embarazo , Nacimiento Prematuro/genética , Estudios Prospectivos , Factores de Riesgo , Población BlancaRESUMEN
OBJECTIVE: TNF-alpha G308A, IL-6 G174C and IL-10 G1082A polymorphisms have recently been associated with preeclampsia (PE). The aim of this study was to clarify whether the occurrence of TNF-alpha, IL-6 and IL-10 polymorphisms is increased in women of our population with PE in a previous pregnancy. METHODS: A retrospective, controlled, open, multicenter study was carried out in 107 women with a history of PE and 107 women with uncomplicated pregnancies. Smears from buccal gingival cells were analyzed for the polymorphisms of TNF-alpha, IL-6 and IL-10 by hybridization on microarrays. Statistical significance was calculated by the chi-quadrant test. RESULTS: Heterozygocity for the gene polymorphisms did not occur more often in preeclamptic women compared with controls (TNF-alpha: 29.0% versus 24.3%, p>0.05; IL-6: 46.7% versus 51.4%, p>0.05; or IL-10: 49.5% in each). Moreover, there was no significant difference between preeclamptics and controls with regard to homozygocity for TNF alpha (1.9% versus 3.7%, p>0.05); IL-6 (17.8% versus 13.1%, p>0.05); and IL-10 (30.8% versus 32.7%, p>0.05). CONCLUSION: In contrast to the findings of some other investigators, gene polymorphisms do not seem to be important in our population for development of PE.
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Interleucina-10/genética , Interleucina-6/genética , Polimorfismo de Nucleótido Simple , Preeclampsia/genética , Factor de Necrosis Tumoral alfa/genética , Adulto , Femenino , Genotipo , Humanos , Embarazo , Estudios RetrospectivosRESUMEN
The purpose of this article is to investigate the frequency of the tumor necrosis factor-alpha (TNF-alpha) -308 G/A single nucleotide polymorphism in women with intrauterine fetal death, preeclampsia, preterm delivery, and small-for-gestational-age (SGA) infants. In a prospective cohort study, DNA from 1652 consecutive pregnant women was analyzed for TNF-alpha -308 G/A by polymerase chain reaction. Women who developed at least 1 of the predefined pregnancy complications were used as cases and compared to women without pregnancy complications. Of 1652 women, 268 (16.2%) developed at least 1 pregnancy complication. TNF-alpha -308 G/A allele frequencies (G: 463/536 [86%] and A: 73/536 [14%] vs G: 2366/2768 [85%] and A: 402/2768 [15%], respectively; P = .6; odds ratio [OR], 0.93; 95% confidence interval [CI], 0.69-1.25) and genotype distributions (G/G+G/A: 259/268 [97%] and A/A 9/268 [3%] vs G/G+G/A: 1352/1384 [98%] and A/A 32/1384 [2%], respectively; P = .4; OR, 0.20; 95% CI, 0.002-14.81) were not significantly different between cases and controls. The authors observed no statistically significant difference in TNF-a -308 G/A genotype distributions comparing controls and women with intrauterine fetal death, preeclampsia, preterm delivery <34 weeks' gestation, preterm delivery >34 weeks' gestation, SGA infants <3rd percentile, and SGA infants of the 4th to 10th percentile. TNF-alpha -308 G/A is not a genetic marker for identifying women at increased risk of common pregnancy complications.
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Polimorfismo de Nucleótido Simple/genética , Complicaciones del Embarazo/genética , Regiones Promotoras Genéticas/genética , Factor de Necrosis Tumoral alfa/genética , Adulto , Estudios de Cohortes , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Humanos , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/epidemiología , Estudios ProspectivosRESUMEN
OBJECTIVE: MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. A common missense mutation in the MTHFR gene (C to T substitution at position 677) produces a variant with reduced enzymatic action. The aim of this retrospective case control study was to investigate whether the occurrence of the MTHFR polymorphism is increased in mothers and fathers of children with a congenital heart disease (CHD) in our population. METHODS: We genotyped 31 couples with CHD offspring and 31 control couples for this study by obtaining smears from buccal gingiva cells and analyzed these for the MTHFR polymorphism by hybridization on microarrays. RESULTS: Statistical significance was calculated using the chi-square test and Pearson-exact test, respectively. The prevalence of homozygosity or heterozygosity for the MTHFR polymorphism was not significantly increased in parents of CHD affected children. Nevertheless significance was observed for the association between aortic arch anomalies and the mothers. CONCLUSIONS: The results of this study do not show any significant association between the MTHFR C677T polymorphism and CHD in our population. Although the numbers are small (n = 3), the MTHFR (C677T) polymorphism may be linked to the development of aortic arch anomalies.
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Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Adulto , Síndromes del Arco Aórtico/epidemiología , Síndromes del Arco Aórtico/genética , Austria/epidemiología , Estudios de Casos y Controles , Femenino , Genotipo , Cardiopatías Congénitas/enzimología , Cardiopatías Congénitas/epidemiología , Humanos , Recién Nacido , Metilenotetrahidrofolato Reductasa (NADPH2)/metabolismo , Mutación Missense , Embarazo , Estudios RetrospectivosRESUMEN
INTRODUCTION: Aim of this cross-sectional study was to analyze the sexual function of women after tension-free vaginal tape (TVT) procedure. PATIENTS AND METHODS: To evaluate the female sexual function after the TVT procedure, we designed a 36-item questionnaire including 21 questions on incontinence, 15 questions on sexuality and 3 questions on the personal impression of the procedure. Diagnostic workup consisted of a detailed medical history, urinalysis, postvoid residual urine volume assessment, ultrasound of the kidney and a urodynamic study. RESULTS: Fifty-two women completed the entire questionnaire. Overall, 82.7% of the women were satisfied with the TVT procedure. A proportion of 74.0% indicated that they became totally continent after the operation. One third of the sexually active women reported an improvement of their sexual life after TVT, 14.3% a worsening, and 52.4% reported no change. Deterioration of sexual function was significantly associated with de novo urge, dyspareunia and sensation of postvoid residual urine volume. CONCLUSION: In summary, our investigations showed that the influence of the TVT procedure on female sexual function is evident, but of low impact, and in general will not be of relevance.
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Sexualidad/fisiología , Cabestrillo Suburetral , Incontinencia Urinaria de Esfuerzo/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Encuestas y Cuestionarios , Procedimientos Quirúrgicos Urológicos/métodosRESUMEN
OBJECTIVE: Measurement of cell-free fetal (cff) DNA in maternal plasma may have clinical application in prenatal screening for fetal Down syndrome and preeclampsia. Little is known regarding the tissue of origin of these fetal-derived sequences. We tested the hypothesis that if the placenta is the major contributor of cff DNA, then an increased placental volume should be associated with higher maternal plasma cff DNA levels. STUDY DESIGN: We enrolled 143 pregnant women who underwent first-trimester placental volume measurement using 3-dimensional ultrasonography. Cff DNA in maternal plasma on the day of the scan was quantified by real-time polymerase chain reaction (PCR) amplification of a Y-chromosome sequence. The association between measured placental volume and maternal plasma cff DNA levels was analyzed along with relevant clinical variables. RESULTS: The median (25th, 75th percentiles) maternal plasma cff DNA level was 16.9 genome equivalents (GE)/mL (10.8, 28.7). Raw values were adjusted for gestational age and maternal body mass index. The median (25th, 75th percentiles) placental volume was 53.2 mL (43.0, 64.7), and median placental quotient (ratio of placental volume to fetal crown-rump length) was 1 mm2 (0.8, 1.1). Based on multivariate linear regression analyses, neither of the above placental measurements showed a significant association with maternal plasma cff DNA levels (P = .43 and .43, respectively). A modest association was found between plasma cff DNA levels and gravidity (P = .03). CONCLUSION: Our data did not show a significant association between either the placental volume or placental quotient, and maternal plasma cff DNA levels. We speculate that it is the extent of placental apoptosis that primarily affects the amount of cff DNA released into the maternal circulation.
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ADN/sangre , Rotura Prematura de Membranas Fetales/sangre , Feto/fisiología , Trabajo de Parto Prematuro/sangre , Placenta/fisiología , Estudios Transversales , Femenino , Humanos , Imagenología Tridimensional , Trabajo de Parto Prematuro/epidemiología , Placenta/diagnóstico por imagen , Embarazo , Primer Trimestre del Embarazo , Ultrasonografía PrenatalRESUMEN
INTRODUCTION: We report a case of a twin pregnancy with triploidy of maternal phenotype of one foetus and no chromosomal anomaly of the other twin and the role of sonographical placental volumetry. CASE: At 12 weeks of gestation, a dichorionic twin pregnancy discordant in growth is diagnosed. 3D ultrasound reveals a distinctly small placental volume of foetus II. Amniocentesis at 16 weeks discloses triploidy of this foetus. Sonography reveals asymmetrical foetal growth retardation, a severe heart defect and bilateral cleft lip and palate, typical findings in triploidy. Selective feticide at week 20+3 is followed by pre-term birth of foetus I at 27 weeks. CONCLUSION: Small placental volume in addition to growth restriction of one foetus early in the course of a twin pregnancy could be an important early marker influencing the decision for chorionic villous sampling at 12 weeks instead of amniocentesis at 16 weeks and it could lead to an earlier selective pregnancy termination of a triploid twin. This would lower the risk of pre-term birth and enable a better outcome for the remaining healthy foetus.