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Biomedical subjects

Vicenç Cararach

Publications and source records attributed to Vicenç Cararach.

12 recordsLinked to original sources

[Neonatal screening of hemoglobinopathies and glucose-6-phosphate dehydrogenase in Catalonia. Pilot study in anonymous not related population].

BACKGROUND AND OBJECTIVE: This was a preliminary study on the prevalence of the HbS gene, associated with sickle cell disease, other hemoglobinopathies and G6PD deficiency of immigrant and non-immigrant population of Catalonia. PATIENTS AND METHOD: A total of 3,189 blood samples from the Catalan Neonatal Screening Program for Metabolic Diseases (CNSPMD) including 1,620 from immigrant population were screened for haemoglobinopathies and G6PD deficiency. For screening of hemoglobinopathies the high performance liquid chromatography (HPLC) method was used and for the screening of G6PD deficiency, we used the fluorescent spot test as described by ICSH. RESULTS: 1. Hemoglobinopathies: in 47 samples from immigrant population 2 cases of sickle cell anemia (phenotypes FS and FSC) were detected as well as 45 cases of heterozygote carriers of different pathological hemoglobins (HbS, HbC, HbD and HbE). 2. G6PD deficiency: in 29 samples, 3 cases of G6PD deficiency belonging to local (non-immigrant) population of G6PD were detected. CONCLUSIONS: The incidence of sickle cell disease in the risk population of Catalonia is 1 case out of 810 samples. This value is significantly higher than that reported for any of the metabolic diseases included in the CNSPMD. Despite it is a preliminary study, the results obtained give further support to the convenience of incorporating a neonatal screening of hemoglobinopathies, at least in the risk population, to the official programs of newborn screening. Due to its feasibility and low cost, a similar criterion might be adopted for the neonatal screening of G6PD deficiency.

Emigration and Immigration↗

Nifedipine versus ritodrine for suppression of preterm labor. Comparison of their efficacy and secondary effects.

OBJECTIVES: To compare the efficacy of nifedipine and ritodrine in prolonging pregnancy beyond 48 h, 1 week and 36.0 weeks and to evaluate maternal side effects and adverse perinatal outcome. STUDY DESIGN: Non-blinded, randomized controlled trial. Eighty patients with singleton pregnancies admitted for preterm labor with intact membranes between 22 and 35 weeks of gestation were included in the study. Preterm labor was defined as the persistence of at least two symptomatic uterine contractions within a 10 min period during 60 min after admission and despite bed rest. RESULTS: Forty women received oral nifedipine and forty intravenous ritodrine. Two patients, one from each group, were excluded because of loss to follow-up after discharge. Therefore, 39 women in the nifedipine and the ritodrine groups, respectively, were evaluable for the final analysis. Baseline characteristics were comparable in both groups. The percentage of initial response, the speed of onset of action and the rate of successful treatment within 48 h were significantly better in the ritodrine group. However, prolongation of pregnancy beyond 7 days and 36 weeks of pregnancy was similar with a significantly lower rate of side effects in the nifedipine group. CONCLUSIONS: In this small trial, ritodrine provided more effective tocolysis within the first 48 h than nifedipine at the doses used in this study, although with a significantly higher rate of side effects.

Administration, Oral↗

First-trimester screening for trisomy 21 in twin pregnancy: does the addition of biochemistry make an improvement?

OBJECTIVE: To evaluate the effectiveness of the addition of first-trimester biochemistry to fetal nuchal translucency (NT) measurement in the Combined Test when screening for trisomy 21 in twin pregnancies. METHODS: Maternal serum free beta-hCG and PAPP-A were determined at 8 to 12 weeks and fetal NT was measured at 11 to 14 weeks. The individual risks were estimated for each of the fetuses using both NT screening alone and the Combined Test. An invasive diagnostic procedure was offered when the risk was 1:250 or over in either one of the fetuses. In the first period, only the results of NT screening were clinically applied. After previous analysis, the Combined Test was introduced into clinical practice. RESULTS: In the two-and-a-half-year study period, a complete follow-up was obtained in 100 twin pregnancies. Three fetuses (two pregnancies) with trisomy 21 were detected by both methods. The false-positive rate achieved by NT screening (14.3% of pregnancies and 8.6% of fetuses) was substantially reduced when first-trimester biochemistry was added in the Combined Test (5.1% of pregnancies and 3.6% of fetuses). CONCLUSION: The Combined Test appears to maintain the detection rate achieved by NT screening for trisomy 21 in twin pregnancies, but false-positive rates and invasive diagnostic procedures are reduced.

Adult↗

Umbilical artery Doppler and umbilical cord pH at birth in small-for-gestational-age fetuses: valid estimate of their relationship.

OBJECTIVE: To evaluate the relationship between umbilical artery pulsatility index and the umbilical cord pH in small-for-gestational-age fetuses. METHODS: Data were collected from all pregnancies seen in our Fetal Surveillance Unit that underwent antenatal monitoring for being small-for-gestational-age beyond 24 weeks of pregnancy. A linear regression was used to analyse the effect of the umbilical artery pulsatility index (UAPI) and umbilical artery pH at birth, assessing interaction and controlling for clinically meaningful antenatal, Doppler, biophysical and perinatal variables. RESULTS: A total of 117 pregnancies were included. According to the estimated model (which included all clinically significant confounders and statistically significant interactions), in cases with reactive cardiotography (CTG) a 1-unit increase in the UAPI resulted in a mean decrease of 0.021 (95% 0.05 to -0.005) units of umbilical artery pH at delivery. In the non-reactive CTG group a 1-unit increase in the UAPI resulted in a mean decrease of 0.02 (95% CI 0.059 to -0.019) units of umbilical artery pH at delivery. Finally, in fetuses with a pathological CTG a 1-unit increase in the UAPI resulted in a mean decrease of 0.149 (95% CI 0.107 to 0.19) units of umbilical artery pH at delivery. CONCLUSIONS: The crude effect between umbilical artery velocimetry on umbilical artery pH at birth has to be interpreted with caution, since an important part of this effect is related to other factors that confound and modify the relationship. After controlling for confounders, it was only in fetuses with pathological CTG that the effect remained statistically significant.

Adult↗

Visual analysis of antepartum fetal heart rate tracings: inter- and intra-observer agreement and impact of knowledge of neonatal outcome.

OBJECTIVE: To evaluate the inter- and intra-observer agreement of visual analysis of fetal heart rate tracing and to evaluate the bias introduced by knowledge of perinatal outcome in this interpretation. METHODS: One hundred tracings were independently analyzed by four observers. In a second study period, two observers re-analysed the 100 tracings in order to evaluate intra-observer agreement. The other two observers re-analyzed the tracings, which were labelled with fictitious perinatal outcome to evaluate the impact of this information on reliability. Agreement was analyzed by means of the proportion of agreement for qualitative parameters and the inter- and intra-class correlation coefficient for quantitative data. RESULTS: Poor agreement was found for quantitative variability, low variability category and number of decelerations. Moderate agreement was observed for baseline, normal variability category and number of accelerations. Fetal heart rate variability and number of accelerations and decelerations were found to be significantly influenced by clinical information of perinatal outcome. Biased observers showed lower reliability than unbiased ones. CONCLUSION: Visual assessment of fetal heart rate tracings is unreliable due to low rates of agreement between and within observers. Only qualitative classification such as normal baseline and normal variability showed good agreement. Knowledge of clinical information introduces subjectivity to the visual analysis, leading to a negative impact on reliability.

Bias↗

Awareness of the use of folic acid to prevent neural tube defects in a Mediterranean area.

OBJECTIVES: The risk of neural tube defects (NTDs) is decreased in women who take folic acid during the periconceptional period. The main objective of our study was to evaluate the awareness of the need for folic acid supplementation and also the actual intake during the periconceptional period to prevent neural tube defects in a Mediterranean area. STUDY DESIGN: A retrospective study was performed from 1 July to 30 November 2000. One thousand consecutive women who delivered in our hospital were interviewed during the immediate postpartum period about their knowledge of neural tube defects and folic acid intake before and during pregnancy. RESULTS: Most women (85.7%) referred not having been specifically informed about the need to take folic acid to prevent neural tube defects although approximately half of the women (50.6%) were in fact, aware of the need for folic acid intake. Eight percent (8.1%) of the women took folic acid before conception but only 6.9% did so during the effective period from 4 weeks before conception to 4 weeks after conception. Logistic regression analysis showed that awareness of the need to take folic acid together with having had preconceptional counselling and knowledge of NTDs were the strongest variables related to the fact of having taken folic acid during the correct period. CONCLUSIONS: Although the population is aware of the need to take folic acid, the real impact of the present recommendations is almost negligible. Information in primary care and preconceptional counselling to specifically inform patients about the need to take folic acid to prevent NTDs seem to be crucial to improve the final intake of folic acid during the protective period.

Adult↗

Cardiac function monitoring of fetuses with growth restriction.

OBJECTIVE: To describe the time sequence of changes in cardiac function in intrauterine growth restriction. STUDY DESIGN: This was a prospective longitudinal study on 22 singleton pregnancies with growth-restricted fetuses. Pulsatility indices of fetal arterial and venous Doppler waveforms, systolic peak velocity in the aorta and pulmonary artery, right and left ventricular shortening fraction and atrioventricular flow E/A ratio were assessed at each monitoring session. Logistic regression was used for modeling the probability of abnormality of a variable in relation to the time interval before delivery. Trends over time were analyzed by Mann-Withney U-test. RESULTS: Umbilical artery pulsatility index was the first variable to become abnormal, followed by the middle cerebral artery, right diastolic indices (right E/A, ductus venosus), right systolic indices and, finally, both diastolic and systolic left cardiac indices. CONCLUSION: We have found an earlier and more pronounced right than left and diastolic than systolic fetal cardiac function deterioration in growth restricted fetuses monitored longitudinally.

Adult↗

Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy.

OBJECTIVE: To assess the potential value of ductus venosus Doppler studies in the detection of fetal aneuploidy on measurement of nuchal translucency. METHODS: The pulsatility index for veins (PIV) and the lowest velocity during atrial contraction (A-wave) were determined in the fetal ductus venosus in 3382 consecutive pregnancies at 10 to 14 weeks and studied from December 1996 to December 2001. Nuchal translucency was also measured. The population studied included 1664 pregnancies at high risk and 1718 at low risk for fetal aneuploidy. RESULTS: In relation to the prenatal detection of trisomy 21, the ductus venosus PIV was increased in 75% (36/48), the A-wave was decreased in 58% (28/48), and nuchal translucency was enlarged in 81% (39/48) of the trisomy 21 fetuses [71% (22/31) when nuchal translucency referrals were excluded]. The corresponding figures for trisomies 18 and 13 were 71, 58 and 83%, respectively, being 33, 33 and 33% for other unbalanced anomalies. CONCLUSION: There is a high proportion of fetuses with trisomies 21, 18 and 13 (around 75%) in which the ductus venosus PIV is increased (above the 95th percentile) at 10 to 14 weeks, this proportion being similar to that observed for increased nuchal translucency measurement.

Adolescent↗

Increased susceptibility to low density lipoprotein oxidation in women with a history of pre-eclampsia.

OBJECTIVES: To evaluate the susceptibility to oxidation of low density lipoprotein (LDL) in women with a history of pre-eclampsia. DESIGN: A case-control study. SETTING: The departments of obstetrics and gynaecology at two university teaching hospitals. POPULATION: Women delivering one to three years before enrollment, 35 who were diagnosed with severe pre-eclampsia and 35 controls matched for age, body mass index (BMI), smoking and parity. METHODS: Plasma samples were analysed for total cholesterol, high density lipoprotein (HDL) cholesterol, LDL cholesterol, triglycerides and lipoprotein A. The in vitro susceptibility to oxidation of LDL was measured and expressed in minutes (lag time). Results are expressed as mean and standard deviation. MAIN OUTCOME MEASURES: Serum lipid profile and in vitro susceptibility to oxidation of LDL. RESULTS: Mean LDL cholesterol (116 [37] vs 98 [20] mg/dL, P < 0.05) and trygliceride (112 [56] vs 78 [38] mg/dL, P < 0.05) levels were significantly higher in the groups of women who had pre-eclampsia compared with controls. The rest of the measured lipid parameters were similar between the two study groups. The susceptibility to oxidation of LDL was also significantly higher in the pre-eclampsia group (lag time: 37.9 [8.4] vs 44.8 [9.1] minutes, P < 0.01). CONCLUSION: Women with a history of pre-eclampsia have significant differences in lipid parameters and an increased susceptibility to lipoprotein oxidation when compared with women who had a normal pregnancy one to three years after delivery.

Adult↗

Transcervical chorionic villus sampling in multiple pregnancies using a biopsy forceps.

OBJECTIVE: The aim of this study was to assess the effectiveness and safety of chorionic villus sampling (CVS) performed in multiple pregnancies by means of a transcervical biopsy forceps. METHODS: The study included CVS performed from January 1990 to March 2000 in our Unit. The results were analysed in two consecutive periods, period A (1990-1994) and period B (1995-2000), in an attempt to assess the effect of increasing experience. RESULTS: Seventy-five samplings were performed in 39 multiple pregnancies, 38 twin sets and one triplet. A cytogenetic report was obtained in 73% of cases in period A and in 98% in period B. An abnormal karyotype was observed in 11 samples. The need for subsequent amniocentesis decreased from 38% in period A to 10% in period B. The spontaneous fetal loss rate in chromosomally and structurally normal fetuses before the 20th week decreased from 8.7% in period A to 3.3% in period B. The fetal loss rate after the 20th week was 3.3% in period B and none in period A. It must be noted that in three out of the four cases of fetal loss an amniocentesis was needed after CVS. CONCLUSION: Our results suggest that effectiveness and safety improved with increasing experience. Transcervical chorionic villus sampling allows an earlier prenatal genetic diagnosis in multiple pregnancies and this may be particularly relevant for a safer selective termination when chosen by parents if one of the fetuses has an abnormal karyotype.

Abortion, Spontaneous↗

Prenatal diagnosis and management of fetal xerocytosis associated with ascites.

OBJECTIVES: To discuss the prenatal diagnosis and management of fetal xerocytosis associated with ascites. CASE REPORT: A 29-year-old woman with hereditary xerocytosis was found to present a fetus with severe ascites on the 20-week scan. Cordocentesis showed mild anemia and blood transfusion was discarded. Ascites worsened and 2 weeks later a new cordocentesis showed lower hematocrit values. Blood transfusion was performed but ascites remained unchanged. Cordocentesis was repeated at 28 weeks and albumin was transfused. Fetal hemoglobin was within the normal range. Peak systolic velocity of the middle cerebral artery remained normal and correctly predicted mild anemia. Expectant management was followed. An elective cesarean section was performed at 32 weeks because of breech presentation and preterm labor which did not respond to aggressive tocolysis. A female newborn weighing 2,615 g was delivered and required paracenteses and exchange transfusion. The newborn was discharged at 4 weeks of life and at 2 months of age, the ascites resolved completely. CONCLUSIONS: The mechanism of development of ascites in fetal xerocytosis remains unanswered. As ascites does not seem to be related to fetal anemia or hypoalbuminemia, does not substantially change after blood transfusion and tends to resolve in late gestation, a conservative management is reasonable if fetal anemia is not severe.

Adult↗

Efficacy of two regimens of misoprostol for early second-trimester pregnancy termination.

OBJECTIVE: To compare the efficacy of a combined regimen of misoprostol with vaginal misoprostol for early 2nd-trimester pregnancy termination. METHODS: This is a prospective study that includes 79 pregnant women who requested legal termination of 2nd-trimester pregnancy between 13 and 22 weeks. Two regimens of misoprostol were used. Group 1: 400 microg of oral plus 400 microg vaginal misoprostol every 8 h (combined regimen) and group 2: 400 microg of vaginal misoprostol every 3 h up to a maximum of five doses (vaginal regimen). RESULTS: The induction-to-abortion interval was significantly longer in group 1 (25.5 +/- 24.45 h) than in group 2 (15 +/- 7.14 h) (p = 0.016). The abortion rate within 24 h in group 1 was of 56.8 vs. 85.7% in group 2 (p = 0.006). The hazard rate for vaginal delivery within 24 h was found to be 2.277-fold greater in the group with the combined therapy once controlled for plausible confounders. CONCLUSIONS: Our study suggests that oral misoprostol combined with vaginal misoprostol does not reduce the induction-to-abortion interval compared to an exclusively vaginal route when used for early 2nd-trimester pregnancy termination.

Abortifacient Agents, Nonsteroidal↗