Pattern of pregnancy weight gain in homozygous sickle cell disease and effect on birth size / Patrones de ganancia de peso gestacional y tamaño al nacer en los casos de anemia de células falciformes

OBJECTIVES: To assess pregnancy weight gain and newborn anthropometry in mothers with homozygous sickle cell (SS) disease and normal controls. METHODS: An eleven-year retrospective review at the University Hospital of the West Indies, Kingston, Jamaica, revealed 128 singleton deliveries in women with SS disease who were matched by maternal age and birth date with 128 controls with a normal AA phenotype. Restriction to those commencing antenatal care before 16 weeks gestation resulted in the final study group of 80 SS patients and 115 AA controls. Weight and height were measured at first antenatal visit and weight at 20, 25, 30, 35 and 38 weeks gestation. Longitudinal regression used mothers'weight as the outcome, genotype as a predictor and gestational age as a random effect. Regression analyses ofmaternal weight on childhood anthropometry were repeated in separate maternal genotypes. Neonatal indices included gestational age, birthweight, head circumference and crown-heel length. RESULTS: Mothers with SS disease had lower weight and body mass index at first antenatal clinic visit (p < 0.001). Total weight gain was 6.9 kg for SS women and 10.4 kg for AA controls (p < 0.001) and weekly weight gain 0.263 kg (95% CI 0.224, 0.301) and 0.396 kg (95% CI 0.364, 0.427) respectively. A significant relationship occurred between birthweight and maternal weight gain at 25-30 weeks gestation in AA controls but this relationship appears delayed in SS disease. CONCLUSION: Different patterns of maternal weight gain in SS mothers and normal controls may have significance for the lower birthweight in SS mothers.

OBJETIVO: Evaluar la ganancia de peso gestacional y la antropometría neonatal en madres con anemia de células falciformes (CF) homocigóticas y en controles normales. MÉTODO: Un examen retrospectivo de once años en el Hospital Universitario de West Indies West Indies, Kingston, Jamaica, reveló la ocurrencia de 128 partos únicos (e.d. de un solo bebé) en mujeres con la enfermedad de CF, que fueron comparadas sobre la base de la edad materna y la fecha de nacimiento, con 128 controles de fenotipo AA normal. A partir de restricciones a las gestantes que comenzaron el cuidado prenatal antes de las 16 semanas de gestación, se llegó finalmente al grupo de estudio de 80 pacientes con CF y 115 controles con AA. El peso y la altura se midieron en la primera visita prenatal, y el peso a las 20, 25, 30, 35 y 38 semanas de gestación. La regresión longitudinal usó el peso de las madres como resultado, el genotipo como predictor, y la edad gestacional como efecto aleatorio. Los análisis de la regresión de peso materno sobre la antropometría fueron repetidos en genotipos maternos separados. Los índices neonatales incluyeron la edad gestacional, el peso al nacer y la circunferencia cefálica. RESULTADOS: Las madres con la enfermedad de CF tenían más bajo peso e índice de masa corporal en la primera visita clínica prenatal (p < 0.001). La ganancia de peso total fue 6.9 kg para las mujeres con CF y 10.4 kg para los controles AA (p < 0.001) y la ganancia de peso semanal 0.263 kg (95% CI 0.224-0.301) y 0.396 kg (95% CI 0.364-0.427) respectivamente. Una relación significativa tuvo lugar entre el peso al nacer y la ganancia de peso materna en las semanas 25-30 de gestación en los controles AA, pero esta relación parece demorada en la enfermedad de CF. CONCLUSION: Los patrones diferentes de ganancia de peso materno en las madres con CF y los controles normales, pueden tener importancia significativa para las madres con CF.

Factor V Leiden and prothrombin G20210A gene mutations in women with a history of thrombosis during pregnancy relation to pregnancy outcomes for mother and fetus

To investigate the presence of factor V Leiden [FVL], and prothrombin gene mutations [PRT], protein C and protein S in pregnant women with a previous history of thromboembolism, and evaluate their impact on maternal and fetal outcomes. This study was carried out at Ain Shams University Hospital, Cairo, Egypt between January 2006 to March 2008. The study included 15 pregnant females without a history of thromboembolism [control group], and 25 pregnant females with a history of previous thromboembolism during pregnancy, and puerperium [patient group]. Identification of FVL and PRT mutations by real-time quantitative polymerase chain reaction, and estimation of protein C and S activity by functional clotting assay were performed. Regarding the control group; one patient had FVL mutation [6.6%], and one had decreased protein C activity [6.6%]. As regard the patient group 13/25 [52%] bad normal genotype, and 12/25 [48%] expressed abnormal genotype either FVL or PRT G20210A, or both. Also 3/25 [12%] patients had decreased protein C activity, and 2/25 [8%] had decreased protein S. The intrauterine growth retardation [IUGR] less than the tenth percentile was more in the patients group [48%] compared to the control group [33%], while there was no statistically significant difference between both groups on preeclampsia, placental abruption, abortion, or IUGR less than the fifth percentile. The FVL was not associated with any adverse outcomes, while the PRT mutation was significantly associated with IUGR less than the fifth percentile. The results of this study shows that good monitoring of fetal growth is mandatory for all carriers of the PRT gene mutation

Venous thromboembolism: the intricacies.

Venous thromboembolism (VTE) has been a subject of great interest of late. Since Rudolph Virchow described the famous Virchow's triad in 1856, there have been rapid strides in the understanding of the pathogenesis and factors responsible for it. Discovery of various thrombophilic factors, both primary and acquired, in the last 40 years has revolutionized prognostication and management of this potentially life-threatening condition due to its associated complication of pulmonary thromboembolism. Detailed genetic mapping and linkage analyses have been underlining the fact that VTE is a multifactorial disorder and a complex one. There are many gene-gene and gene-environment interactions that alter and magnify the clinical picture in this disorder. Point in case is pregnancy, where the risk of VTE is 100-150 times increased in the presence of Factor V Leiden, prothrombin mutation (Prothrombin 20210A) and antithrombin deficiency. Risk of VTE associated with long-haul air flight has now been well recognized. Thrombotic events associated with antiphospholipid syndrome (APS) are 70% venous and 30% arterial. Deep venous thrombosis and pulmonary embolism are the most common venous events, though unusual cases of catastrophes due to central vein thrombosis like renal vein thrombosis and Budd-Chiari syndrome (catastrophic APS) may occur.

Pregnancy-associated venous thromboembolism in combined heterozygous factor V Leiden and prothrombin G20210A mutations

CONTEXTO: A gravidez e o puerpério aumentam os risco de eventos tromboembólicos, e estes riscos são maiores em mulheres portadoras de trombofilias. As mutações (FII) G20210A do gene da protrombina e a heterozigose da mutação do fator V de Leiden conferem risco moderado de trombose. A associação desses dois fatores é muito rara e o real risco de trombose é desconhecido. RELATO DE CASO: Descrevemos o caso de uma gestante portadora de ambos os fatores. Cinco anos antes da gestação, apresentou um episódio de trombose venosa associada ao uso de contraceptivos orais, e na sexta semana de gestação apresentou novo episódio. Foi tratada desde então com heparina de baixo peso molecular (nadroparina) até o parto. A gestação evoluiu sem nenhuma morbidade obstétrica significativa, e a paciente deu à luz um recém-nascido no termo, de parto cesariana. No puerpério, foi mantida nadroparina por seis semanas, e não ocorreram complicações. Mulheres portadoras de trombofilias e com antecedente de trombose devem ser mantidas em anticoagulação por toda a gestação e puerpério com heparina não-fracionada ou de baixo peso molecular. Recomenda-se a anticoagulação durante a gravidez pois não se conhece a magnitude real do risco de eventos tromboembólicos potencialmente fatais.