RESUMEN

RESUMEN La artrogriposis múltiple congénita es una enfermedad de baja frecuencia, esporádica, no progresiva, que aparece en el período prenatal y se caracteriza por varias contracturas articulares presentes al nacimiento en los cuatro miembros. Se estima una incidencia de 1/10 000 nacidos vivos. El diagnóstico es posible al realizar los ultrasonidos en un feto que tiene posiciones viciosas y que no se mueve. La prevalencia de la artrogriposis múltiple congénita es variable, resultando la más frecuente la artrogriposis múltiple clásica (amioplasia), presente entre el 40 y el 50 % de los afectados. La búsqueda ultrasonográfica en el tercer trimestre del embarazo es fundamental con fines diagnósticos, para brindar asesoramiento genético y preparar un equipo para el nacimiento. Es importante tener sospecha diagnóstica para sugerir la vía alta por cesárea, para bienestar fetal. Un grupo multidisciplinario debe llevar a cabo el manejo y tratamiento de estos enfermos. Se presenta el caso de un neonato nacido a las 39 semanas por parto eutócico prolongado por presentación de cara, con sufrimiento fetal agudo, meconio ++++, apgar 5-7, con peso de 3 300 g, que presentó luxación y contractura generalizada de hombros, codos, así como de caderas, rodillas y tobillos, con dedos de manos y pies en flexión.

ABSTRACT Congenital multiple arthrogryposis is a low-frequency, sporadic, non-progressive disease that appears in the prenatal period, and is characterized by several contractures present at birth in the four limbs. The estimated incidence is 1/10 000 born alive. The diagnosis is possible performing ultrasounds on a fetus that has vicious positions and does not move. The prevalence of congenital multiple arthrogryposis is variable, being classical multiple arthrogryposis (amyoplasia) the most frequent one, present in between 40 and 50 % of the affected persons. Ultrasonographic search in the third semester of pregnancy is essential for diagnostic purposes to provide genetic counseling and to prepare a ream for birth. It is important to have diagnostic suspicion to suggest the high cesarean way for fetal well-being. A multidisciplinary group should carry out the management and treatment of these patients. The case of a newborn is presented, who was born at 39 weeks by prolonged eutocic delivery due to presenting face, with acute fetal suffering, meconium ++++, apgar 5-7, weighing 3 300 g, that presented luxation and general contracture of shoulders, elbows, and also hips, knees and ankles, with fingers and toes in flexion.

Asunto(s)

RESUMEN

The umbilical cord suspends the fetus within the amniotic cavity, where fetal dynamics is one of its many functions. Hence, the umbilical cord is a viable index in determining fetal activity. Fetal movements result in mechanical loads that are fundamental for fetal growth. At present, mechanical environment during early human fetal development is still largely unknown. To determine early fetal movement dynamics at given physiological (0.060 m) and pathological umbilical cord lengths (0.030 m, 0.020 m, 0.017 m and 0.014 m) a 2D computational model was created to simulate dynamic movement conditions. Main findings of this computational model revealed the shortest umbilical cord length (0.014 m) with a 6(10-6)N, twitch force amplitude had a two-fold increase on linear velocity (0.12 m/s) in comparison with other lengths (0.05m/s). Moreover, umbilical cord length effect presented an increasing exponential tension on the fetus body wall from longest to shortest, from 0 N in the control length to 0.05 N for the shortest umbilical cord. Last, tension was always present over a period of time for the shortest cord (0.03 N to 0.08 N). Collectively, for all variables evaluated the shortest umbilical cord (0.014 m) presented remarkable differences with other lengths in particular with the second shortest umbilical cord (0.017 m), suggesting a 0.003 m difference represents a greater biomechanical effect. In conclusion, this computational model brings new insights required by clinicians, where the magnitude of these loads could be associated with different pathologies found in the clinic.

Asunto(s)

RESUMEN

INTRODUCTION: Some studies suggest that maternal touch of the abdomen produces an increase in the number of movements of the fetus. However, the influence of maternal touch of the abdomen on fetal cardiotocography patterns has not been studied. METHODS: This nonrandomized, before-after clinical trial that assessed fetal cardiotocography patterns during maternal touch of the abdomen in 28 low-risk pregnant women. RESULTS: Baseline fetal heart rate, accelerations, decelerations, and variability did not change with maternal touch of the abdomen, but fetal movements increased (p = 0.044). CONCLUSION: Fetal movements increases during maternal touch of the abdomen.

Asunto(s)

RESUMEN

BACKGROUND: Tetrahydrobiopterin (BH4) is the cofactor for 6-pyruvoyl-tetrahydropterin synthase (PTPS); it is involved in BH4 biosynthesis and is encoded by PTS gene. Its deficiency (PTPSD) is characterized by hyperphenylalaninemia (HPA) and deficit in central monoamine neurotransmitters. We describe the clinical and mutational spectrum of five patients with PTPSD, from four unrelated Mexican families. All patients had symptomatic diagnosis and presented severe early neurological manifestations and HPA. METHODS: Clinical and biochemical data from studied patients were recorded. Responsible PTPSD genotypes was determined by direct and bidirectional Sanger DNA sequencing of the six PTS coding exons and their exon-intron borders, and these were directly searched in the available relatives. The novel PTS missense variant [NM_3000317.2:331G > T, p.(Ala111Ser)] was subjected to in silico, to predict a possible deleterious effect. RESULTS: Diminished fetal movements were perceived as a uniform characteristic in the studied group. DNA sequencing showed two known p.(Arg25∗) and p.(Val132TyrFs∗19) and the novel missense p.(Ala111Ser) PTS variants, the latter representing potentially a frequent PTPSD-responsible allele (50%, 4/8) in Mexican patients. In silico protein modeling analysis of the p.(Ala111Ser) variant revealed loss of hydrophobic interactions between the alanine and neighboring valines, suggesting that these changes in polarity may be detrimental for enzyme function, structure and/or stability. CONCLUSIONS: This work contributes to the knowledge of PTPS molecular spectrum. The delayed diagnosis of these patients emphasizes the importance of considering BH4 metabolism defects in the differential diagnosis of HPA, especially for countries that are beginning their HPA newborn screening programs.

Asunto(s)

RESUMEN

OBJECTIVE: To determine whether maternal anxiety affects fetal movement patterns in the third trimester of pregnancy. METHODS: The inclusion criteria were a state of good health and a singleton pregnancy between 36 and 40 weeks. Thirty healthy pregnant women were included. The Beck Anxiety Inventory (BA) questionnaire with 21 self-reported items validated for the Brazilian population was applied. The women were asked to record the number of minutes taken to perceive 10 fetal movements once a day for one week. Anxiety symptoms were rated as moderate or severe according to the BAI total score. RESULTS: The mean BAI score was 20.8 (SD = 10.2) and the mean time to count 10 fetal movements was 24.3 min (SD = 6.6 min). The BAI items significantly associated with moderate or severe maternal anxiety were numbness or tingling, fear of the worst happening, terrified, feeling of choking, fear of losing control and fear of dying. There was a statistically significant negative correlation between the total BAI score and the mean time of 10 perceived fetal movements (p < 0.0001; rho = -0.70; 95% CI for rho -0.84 to -0.45). CONCLUSIONS: Maternal anxiety seems to affect fetal movement patterns in late pregnancy and is associated with the mother's increased perception of fetal activity.

Asunto(s)

RESUMEN

OBJETIVO: Verificar, em gestantes de baixo risco, a concordância entre a percepção materna dos movimentos fetais e os movimentos constatados simultaneamente pela ultrassonografia. MÉTODOS: Foram avaliadas 20 gestantes com os seguintes critérios de inclusão: feto único e vivo; idade materna entre 18 e 35 anos; idade gestacional entre 36 e 40 semanas completas; morfologia fetal normal ao exame ultrassonográfico; ausência de morbidades clínicas ou obstétricas. A gestante foi avaliada por dez minutos, período em que foi monitorada com aparelho de cardiotocografia para registro dos movimentos fetais acionados com o marcador de eventos, com a velocidade do papel ajustada para 3 cm/min. Simultaneamente foi realizada observação dos movimentos fetais pela ultrassonografia. RESULTADOS: A análise de concordância interobservador pela análise de kappa obteve o índice de 0,62, caracterizando boa concordância (IC95% 0,45 - 0,79). O coeficiente de correlação intraclasse foi de 0,82 (IC95% 0,61 - 0,92). A análise pelo gráfico de Bland & Altman indicou boa concordância. A análise pela regressão linear demonstrou correlação significativa entre a percepção materna (x) e a observação pela ultrassonografia (y) (r²=0,71; p<0,001; equação: y= 5,31+0,66x). CONCLUSÕES: A concordância da percepção materna e ultrassonográfica dos movimentos fetais é boa, o que permite o uso da contagem de movimentos fetais na avaliação da vitalidade fetal.

PURPOSE: To determine the agreement between maternal perception of fetal movements and the movements recorded simultaneously by ultrasound in low-risk pregnancies. METHODS: Twenty pregnant women were evaluated with the following inclusion criteria: single pregnancy, alive fetus, maternal age between 18 and 35 years; between 36 and 40 weeks gestation; normal fetal morphology at ultrasound, and absence of maternal comorbidities. The pregnant women were evaluated for 10 minutes, during which cardiotocography was used to record fetal movements triggered with the event marker, with the paper speed set at 3 cm/min. At the same time, fetal movements were observed by ultrasonography. RESULTS: The kappa index for interobserver agreement analysis was 0.62, showing good agreement (95%CI 0.45 - 0.79). The intraclass correlation coefficient was 0.82 (95%CI 0.61 - 0.92). Analysis by the Bland & Altman graph indicated good agreement. A linear regression analysis showed a significant correlation between maternal perception (x) and ultrasound (y) observation (r²=0.71, p<0.001; equation: y=5.31+0.66x). CONCLUSIONS: The agreement between ultrasound and maternal perception of fetal movement is good, allowing the use of fetal movement counting in the assessment of fetal wellbeing.

Asunto(s)

RESUMEN

Tipo de estudio: observacional, prospectivo en 100 mujeres en estado gravídico sometidas al examen de monitoreo fetal anteparto (MFA) en el hospital Gineco-Obstétrico “Enrique C. Sotomayor” de la ciudad de Guayaquil, durante el período comprendido de abril a junio de 2006. Objetivo: Determinar el nivel de ansiedad en las mujeres gestantes sometidas a monitoreo fetal anteparto (MFA) según el lugar donde se realiza: Admisión (AD) o Embarazo de Alto Riesgo (EAR). Método: Durante el período de estudio, se encuestaron aquellas gestantes sometidas a un MFA con la Escala de Hamilton para medir el grado de ansiedad y un cuestionario general para secundariamente precisar el nivel de satisfacción del procedimiento según el lugar de ejecución, los motivos de consultas mas frecuentes que conllevaron a solicitar el examen y si los niveles de ansiedad influyeron en la longitud del trazado del monitoreo fetal. Resultados: El MFA fue realizado a un total de 100 gestantes durante el período de estudio el cual mas frecuentemente fue realizado en EAR (71 vs. 29). Según la Escala de Hamilton, 32 de la gestantes obtuvieron un puntaje igual o superior a 6 considerado portador de ansiedad. Aquellas sometidas a MFA en EAR tuvieron puntajes de ansiedad en mayor proporción que las AD (39.4 vs. 13.8, p <0.05). No hubo diferencia entre aquellas realizándose el examen con o sin patología de riesgo. Un 39 de las pacientes no tenían conocimiento sobre el procedimiento al que iban a ser sometidas. Las gestantes a las que se les realizó el MFA en AD respondieron sentirse cómodas en mayor proporción que las de EAR (93 vs. 34, p < 0.05). Un 36.6 de las gestantes de EAR, recomendaron realizar el examen en AD; 29.6 recomendaron no pasar por preparto y un 7 refirieron la falta de claridad en la explicación del médico que solicitaba el MFA.

Type of study: Observational, prospective in 100 pregnant women with antepartum fetal monitoring (AFM) in “Enrique C. Sotomayor” Gynecology and Obstetrics Hospital, in Guayaquil, from April to June, 2006. Objective: To set the anxiety level in pregnant women with antepartum fetal monitoring, depending on the area where it is carried out: Admitting (AO) or High Risk Pregnancy (HRP). Method: During the study lapse the Hamilton Anxiety Rating Scale (HARS)was administered to those pregnant women who had an antepartum fetal monitoring in order to measure their anxiety level. Secondly, a general questionnaire was also administered to them to specify the satisfaction level about the procedure depending on the area where it was carried out, the most frequent chief complaints that caused the exam request and to know if the levels of anxiety had influence on the length of the design of the fetal monitoring. Results: The AFM was made to 100 pregnant women, and during the study lapse, it was more frequent in the HRP (71 vs. 29). According to HARS, 32 of cases got a score of 6 or higher, i.e.: anxiety carrier. Those who had AFM in HRP got anxiety scores higher than those in AO (39.4 vs. 13.8, p <0.05. There was no difference between those examined with or without risk pathology. Patients that did not know about the procedure to be carried out to them: 39. More patients who had the AFM in AO said they were comfortable than those who had it in HRP (93 vs. 34, p < 0.05). More patients who had AFM in HRP felt that the place was noisy and with little privacy than those who had it in AO (61 vs. 3 y 72 vs. 0, respectively, p < 0.05).

Asunto(s)