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Burnout: una realidad compleja, confusa e ignorada / No disponible

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Treatment with amniopatch of premature rupture of membranes after first-trimester chorionic villus sampling.

OBJECTIVE: To assess the amniopatch procedure when premature rupture of membranes occurs after first-trimester chorionic villus sampling (CVS). STUDY DESIGN: From May 2001 to June 2004, the amniopatch procedure was offered in cases of premature rupture of membranes after CVS when severe oligohydramnios was present (largest vertical pocket < 2 cm) and persistent (more than 1 week). RESULTS: The amniopatch was placed in five pregnancies at 12-18 weeks of gestation, resulting in amniotic fluid restoration in all but one pregnancy. In three pregnancies, fetal demise was observed at 1, 2 and 36 days after the procedure. The last procedure resulted in a healthy newborn. CONCLUSION: Although the amniopatch restored normal amniotic fluid levels in all cases, 4 of the 5 cases resulted in fetal demise.

Undergoing prenatal screening for Down's syndrome: presentation of choice and information in Europe and Asia.

To date, studies assessing whether the information given to people about screening tests facilitates informed choices have focussed mainly on the UK, US and Australia. The extent to which written information given in other countries facilitates informed choices is not known. The aim of this study is to describe the presentation of choice and information about Down's syndrome in written information about prenatal screening given to pregnant women in five European and two Asian countries. Leaflets were obtained from clinicians in UK, Netherlands, Spain, Italy, Czech Republic, China and India. Two analyses were conducted. First, all relevant text relating to the choice about undergoing screening was extracted and described. Second, each separate piece of information or statement about the condition being screened for was extracted and then coded as either positive, negative or neutral. Only Down's syndrome was included in the analysis since there was relatively little information about other conditions. There was a strong emphasis on choice and the need for discussion about prenatal screening tests in the leaflets from the UK and Netherlands. The leaflet from the UK gave most information about Down's syndrome and the smallest proportion of negative information. By contrast, the Chinese leaflet did not mention choice and gave the most negative information about Down's syndrome. Leaflets from the other countries were more variable. This variation may reflect cultural differences in attitudes to informed choice or a failure to facilitate informed choice in practice. More detailed studies are needed to explore this further.

False positives in the prenatal ultrasound screening of fetal structural anomalies.

OBJECTIVE: To describe the false-positive diagnoses of prenatal ultrasound screening of fetal structural anomalies. METHODS: Pregnancies with fetal structural anomalies either detected prenatally in our center or referred to us, were registered, evaluated, and followed-up prospectively by a multidisciplinary Congenital Defects Committee. After postnatal follow-up was completed, cases were assigned as true positives, false positives or false negatives and categorized by anatomical systems. Pregnancies referred with a nonconfirmed suspicion of anomaly were not included. The false-positive diagnoses were analyzed. RESULTS: From 1994 to 2004, 903 new registry entries of fetuses structurally abnormal at ultrasound with a complete follow-up were included in the Committee database. There were 76 false positives, accounting for 9.3% of all the prenatally established diagnoses. The urinary tract anomalies were the most frequent false-positive diagnoses found (n = 25; accounting for 8.7% of the urinary tract defects), but the genital anomalies showed the higher rate of no confirmation (n = 5; 15.2%). The specific anomalies most commonly not confirmed were renal pyelectasis (n = 9), cerebral ventriculomegaly (n = 9), abdominal cysts (n = 7) and short limbs (n = 7). CONCLUSION: Several prenatally diagnosed anomalies would benefit from prudent counseling, because they may be normal variants or transient findings.

Translucencia nucal y ductus venoso: valores de referencia en el primer trimestre de la gestación / Nuchal translucency and ductus venosus. Reference intervals in the first trimester of pregnancy

Objetivo: Establecer los intervalos de referencia en nuestra población de la translucencia nucal (TN) y del índice de pulsatilidad para venas (PIV) del ductus venoso (DV). Métodos: Durante 4 años, se estudiaron gestaciones consecutivas con ecografía realizada entre las 11,1-14,0 semanas procedentes de la población general. Se construyeron intervalos de referencia siguiendo la metodología descrita por las National Committee for Clinical and Laboratory Standards. De acuerdo con la conclusión del test de partición, se estimaron intervalos de referencia específicos para la edad gestacional mediante modelos de regresión lineal, para la TN. La desviación de los modelos estimados respecto a la linealidad se evaluó mediante polinomios fraccionales de grado 1 o 2. Resultados: Se incluyeron un total de 2.612 gestaciones. No se observaron diferencias significativas en los intervalos calculados para PIV del DV para los grupos de edad gestacional. Se observó una diferencia significativa de los valores de TN entre los grupos de edad (p < 0,001), y la estimación de los intervalos de referencia específicos para la edad gestacional mostró un incremento no lineal. Conclusión: Se observó un incremento de la TN con la edad gestacional, mientras que el PIV del DV se mantuvo constante

Objective: To establish the reference ranges for nuchal translucency (NT) and ductus venosus (DV) pulsatility index for veins (PIV) in our population. Methods: During a 4-year period, pregnancies originated from the general population undergoing 11.1-14.0 weeks ultrasound examination were studied. Reference intervals were constructed following the methodology described by the National Committee for Clinical and Laboratory Standards. According to the conclusion of the partition test, gestational age-related reference intervals were estimated using linear regression models for the NT. Deviances from linearity in the estimated models were evaluated using fractional polynomials of 1st or 2nd degree. Results: 2,612 pregnancies were studied. No significant differences were found for DV PIV between gestational age groups. There was a significant difference of the NT values between age groups (p < 0.001) and the gestational age-related estimation of reference intervals showed a no-linear increase. Conclusion: A significant increase was found for NT with gestational age, whereas the DV PIV remained constant

Cáncer de cérvix y biología molecular: ¿futuro esperanzador? / Cervical cancer and molecular biology: an encouraging future?

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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.

First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers.

OBJECTIVE: To estimate the improvement in screening efficiency when fetal ductus venosus Doppler studies are added to existing first-trimester Down syndrome screening protocols. METHODS: Statistical modelling was used with parameters derived from prospective ductus venosus studies and from the published literature. The pulsatility index for veins (PIV), was determined in the fetal ductus venosus for 3706 unaffected and 25 Down syndrome pregnancies at 10-14 weeks' gestation. Concurrent nuchal translucency measurement and maternal serum pregnancy associated plasma protein A and free-beta human chorionic gonadotrophin were also measured. RESULTS: The median PIV in Down syndrome was 1.70 times higher than in unaffected pregnancies (95% confidence interval 1.36-2.12). PIV levels followed an approximately log Gaussian distribution with log(10) standard deviations of 0.193 and 0.076 in Down syndrome and unaffected pregnancies. There were no statistically significant correlations between PIV and the other markers. Modelling predicts that for a fixed 5% false-positive rate, the addition of PIV to nuchal translucency alone will increase the detection rate from 76 to 85%, and combined with serum markers, from 88 to 92%. For a fixed 85% detection rate, the false-positive rate reduced from 15 to 4.8% and from 3.2 to 1.2% respectively. CONCLUSION: Ductus venosus Doppler studies can substantially improve Down syndrome screening efficiency.

Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history.

Jarcho-Levin syndrome (JLS; spondylothoracic dysplasia) is a congenital disease characterized by multiple vertebral and rib malformations, causing a short trunk dwarfism commonly leading to respiratory insufficiency and death during the first years of life. We describe a case diagnosed during the second trimester routine ultrasound scan for screening of fetal anomalies without a previous family history. The fetus had a severe disorganization of the spine and ribs, skeletal kyphosis, with several hemivertebrae and a small thorax. All of the findings at postmortem examination confirmed the ultrasound features and were consistent with the JLS. To the best of our knowledge there is only one case reported in the literature of a prenatal diagnosis of the syndrome in a family with low risk for the condition.

First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study.

OBJECTIVE: To assess the effectiveness of the Combined Test in the prenatal detection of trisomy 21 in the general pregnant population using a new timing for the screening approach. METHODS: First-trimester maternal serum biochemical markers (pregnancy-associated plasma protein-A and free-beta hCG) were determined in maternal serum at 7 to 12 weeks. Fetal nuchal translucency and gestational age were assessed at the 10- to 14-week ultrasound scan. A combined risk was estimated and delivered to the women the same day. When the risk was 1:250 or above, chorionic villus sampling was offered. RESULTS: Mean gestational age at biochemistry was 9.4 weeks, being 12.3 at ultrasound. In the 2780 studied pregnancies with a complete follow-up, observed detection rates were 88% (7/8) for trisomy 21 and 75% (3/4) for trisomy 18, with a 3.3% (92/2765) false-positive rate. CONCLUSION: The Combined Test, assessing biochemistry and ultrasound at individually optimal ages in the first trimester, showed an 88% detection rate for trisomy 21 with a remarkably reduced false-positive rate (3.3%).

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.

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.