Ataxia de Friedrich & Embarazo

Dr. Philippe Salles G.CETRAMAtaxia de Friedrich &Embarazo

BRITISH MEDICAL JOURNAL VOLUME 293 2 AUGUST 1986

No hubo muertes perinatales

Todos NV >36 Semanas

A 5 se les ofreci abortar- 4 rechazaron Todas NV sin complicaciones obsttricas

2 Presentaron HTA Parto Normal

3 Recibieron epidural (1 con cardiomiopata Hipertrfica): 2 Parto Normal y 1 Forceps

1 de 16 sin DM desarroll Diabetes Gestacional

Although Friedreich's ataxia is a serious disease with serious cardiovascular and metabolic problems, the reproductive performance of the 17 women was good. They did not seem to have been prone to antenatal complications, early premature labour and hypertension induced by pregnancy. Thus a normal delivery should be expected in women with Friedreich's ataxia; when epidural anestesia is required it should not be withheld purely because of the condition. Friedreich's ataxia itself is not an indication for termination of pregnancy. Cardiovascular examination is mandatory in all patients, and early referral to a cardiologist is recommended. In those who have heart disease electcardiographic monitoring throughout labour should be recommended. Couples of whom one or both are affected with Friedreich's atxia should seek full genetic counselling. The risk of a woman with Friedreich's ataxia and no family history having an affected child is about one in 220

BRITISH MEDICAL JOURNAL VOLUME 293 2 AUGUST 1986

31 Mujeres 65 embarazos- 1 embarazo gemelar- 9 abortos espontneos (6 mujeres)- 1 trisomia 18 aborto teraputico 16 semanas.

42/54 (77.8%) partos vaginales12/54 (22.2%) Cesreas (2 electivas)

47 (87%) nacimientos de trmino (38-42 sem)7 (12.96%) Pretrmino (35-37 sem)

Peso Promedio RN 3,2 Kg

9 RN con apgar 7-10 y 1RN apgar 4-6 al min.Todos los RN Apgar 7-10 a los 5 minutos

Estada hospitalaria promedio de la madre: 2.6 dias post parto94.4% de los RN se fueron de alta con la madre

Am J Obstet Gynecol 2010;203:224.e1-5

Of 54 live births on whom data were suf- ficiently complete, 42 were vaginal deliveries (77.8%) and 12 (22.2%) were cesarean sections, including 2 elective cesarean sections. The cesarean section rate was below the national average of approximately 25%.20 In all, 47 babies (87.04%) were born at term, between 38-42 weeks of pregnancy. Seven babies (12.96%) were preterm, born between 35-37 weeks of pregnancy. The average birth weight of the babies was 7 lb, 7.5 oz; 48 babies (88.9%) weighed between 6 and 9 lb; 2 babies (3.7%) weighed 6 lb; and 4 babies (7.4%) weighed 9 lb. When available, the average Apgar score of the newborns was noted. Nine newborns had an Apgar score between 7 and 10 at 1 minute of birth, and 1 baby had an Apgar score between 4 and 6. All babies on whom data were available had an Apgar score between 7 and 10 at 5 minutes of birth. The average length of the hospital stay for the mother following delivery was 2.6 days. Most babies (94.4%) went home from the hospital at the same time as their mothers. Three babies (5.6%) had longer stays. Of those babies, 1 was febrile and spent 2 days in the neonatal intensive care unit for transient tachypnea of the newborn. Another spent 10 days in the neonatal intensive care unit for respiratory distress syndrome complicated by a small pneumothorax of the left anterior lobe. Insufficient medical records were available to evaluate the cause of the prolonged hospitalization for the third infant. The women were asked to retrospectively self-rate FRDA changes they experienced immediately following delivery. Fourteen women (50%) believed the FRDA symptomatology did not change. Two women (7.1%) believed that the FRDA improved following delivery, but could not specify the exact nature of improvement. Twelve women (42.9%) believed that the FRDA became worse following delivery, citing reasons such as increased fatigue, urinary urgency, and coordination and balance difficulties. 4

Am J Obstet Gynecol 2010;203:224.e1-5

The above results suggest that women with FRDA are capable of successful pregnancy with relatively few complications. FRDA did not appear to increase the risk of SAB, preeclampsia, or preterm birth. Additionally, despite the sensory and proprioceptive loss that occurs in this disease, 77.8% of births were vaginal. The vast majority of babies were born at appropriate weights with no health complications. The above results also suggest that individuals may experience varying degrees of pregnancy-related changes with FRDA. The women in the study were divided as to whether pregnancy made their FRDA symptoms worse, better, or unchanged. However, the results demonstrate that pregnancy does not necessarily make FRDA worse, as has been previously speculated. Additionally, the women were evenly divided as to whether FRDA stayed the same or became worse postpartum. Further research is needed with a larger cohort to determine the exact changes in FRDA that may occur during pregnancy and following delivery. The present study is limited by the relatively small sample size of the cohort. However, due to the rare nature of FRDA, to the authors knowledge, this is the largest population of FRDA women who have been studied with regard to pregnancy. Additionally, there may be some cohort bias, as most of the participants were recruited through a dedicated FRDA program or through word of mouth. Therefore, the sample may be biased toward a population already receiving specialized care for their disease, indicating a higher level of health than the overall FRDA population5

14 Mujeres (50%) no reportaron cambios en la sintomatologa de ataxia de Friedreich2 (7,1%) Reportaron mejora post parto (sin poder especificar la naturaleza de la mejora)12 (42.9%) crean que FRDA haba empeorado post parto (aumento en fatiga, urgencia urinaria y problemas de coordinacin y balance)

Am J Obstet Gynecol 2010;203:224.e1-5

The women were asked to retrospectively self-rate FRDA changes they experienced immediately following delivery. Fourteen women (50%) believed the FRDA symptomatology did not change. Two women (7.1%) believed that the FRDA improved following delivery, but could not specify the exact nature of improvement. Twelve women (42.9%) believed that the FRDA became worse following delivery, citing reasons such as increased fatigue, urinary urgency, and coordination and balance difficulties.6

Potencial complicacin cardiacaSeguridad en el uso de anestesia regional y relajantes muscularesDrogas cardiovasculares, incluidos vasopresores e inotrpicos, deben estar disponiblesDisponibilidad de Marcapasos externo en pacientes con alteracin de condiccin de alto gradoPuede usarse el bloqueo neuroaxial. Pero puede dificultarse en escoliosis severasExiste la posibilidad de una Hiperkalemia exagerada en respuesta al uso de succinilcolina y una respuesta variable a bloqueo neuromuscular no depolarizanteLa escoliosis severa puede resultar en enf. Pulmonar restrictiva que dificulte la extubacin posterior a anestesia general

Muscle Nerve 48: 451460, 2013

Anesthetic considerations include potential for cardiac complications, the safety of regional anesthesia and the use of muscle relaxants. Cardiovascular drugs, including vasopressors and inotropics, should be readily available, and additional monitoring may be necessary, including availability of external pacing in patients with high-grade conduction abnormalities. Neuraxial blockade can be used; however, severe scoliosis may make it diffi- cult to perform.48 There is a possibility of an exaggerated hyperkalemia response to succinylcholine and a variable response to nondepolarizing neuromuscular blocking drugs. Severe scoliosis may result in restrictive lung disease that makes tracheal extubation after general anesthesia challenging.47

La mayora de las mujeres tienen parto normalMujeres reportan mejora, deterioro, o no presentar cambios en la Ataxia con el embarazo en similar nmeroEl equipo de obstetricia debe monitorear: Bloqueos de conduccin cardiaca, reduccin de movilidad por la debilidad y DiabetesPrevencin de TVP y TEP Existen reportes de TVP a pesar de uso de anticoagulantes y debilidad profunda con compromiso ventilatorio tras la administracin de Magnesio

Continuum (Minneap Minn) 2014;20(1):148161

Friedreich ataxia is an autosomal recessive neurodegenerative disease.24 A study of 31 women with Friedreich ataxia with 65 pregnancies resulting in 56 live offspring found that spontaneous abortion, preeclampsia, and preterm birth were not increased. The majority of women had normal vaginal deliveries. Women reported unchanged, worse, or better ataxia with pregnancy in equal numbers. Other features of Friedreich ataxia (cardiac conduction block, reduced mobility due to weakness, and diabetes mellitus) should be monitored by the obstetric team or maternal health specialist, and care should be given to prevent deep vein thrombosis and pulmonary embolism. In fact, case reports of deep vein thrombosis occurring despite anticoagulation and of profound weakness occurring with ventilatory compromise after the administration of magnesium8