Biomedical subjects

Antoni Borrell

Publications and source records attributed to Antoni Borrell.

14 recordsLinked to original sources

PubMed2007

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.

Congenital Abnormalities↗

PubMed2006

Prenatal diagnosis in human immunodeficiency virus-infected women: a new screening program for chromosomal anomalies.

OBJECTIVE: This study was undertaken to describe a new prenatal diagnosis program among human immunodeficiency virus (HIV)-infected women, and the perinatal outcome of this program's application over a more than 2-year period. STUDY DESIGN: From June 2000 to December 2003, all HIV-infected women who were booked into the antenatal clinic before 20 weeks were offered a screening for chromosomal anomalies, with midtrimester amniocentesis in the tests that were positive. RESULTS: A total of 116 pregnancies (including 3 sets of twins) were seen: 96 women were offered and accepted screening for chromosomal anomalies. Thirteen pregnancies had a positive screening test and amniocentesis was performed in 10 at median 16.5 gestational weeks: a trisomy 21 and a monosomy X were diagnosed. No vertical transmissions were documented by age 6 months in the 6 liveborn infants who underwent amniocentesis. CONCLUSION: A program of prenatal diagnosis for chromosomal anomalies appears to be effective when applied to HIV-infected women, although safety remains to be proven.

Adult↗

PubMed2005

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14', 15, and 21 leading to balanced and unbalanced rearrangements in offspring.

We report an unusual case of a familial complex chromosome rearrangement (CCR), ascertained through prenatal diagnosis. The fetus carried an apparently balanced CCR with a recombinant 3-segment chromosome derived from two paternal reciprocal translocations involving both homologs of chromosome 14 and chromosomes 15 and 21, respectively. A probably normal phenotype was predicted and confirmed after birth. His older sister carried an unbalanced karyotype with partial trisomy 14 and partial monosomy 21, and displayed an apparently normal, paternally derived chromosome 14 that resulted from recombination between two derivative chromosomes. Fluorescent in situ hybridization (FISH) and molecular studies were essential for the characterization of the rearrangement. The "rebuilding," through recombination, of a chromosome involved in two different translocations in a progenitor, was demonstrated for the first time by molecular analysis. Our family is another good example of how balanced familial complex translocations are in a state of flux and can change from one generation to the next.

Chromosomes, Human, Pair 14↗

PubMed2005

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.

Chorionic Gonadotropin, beta Subunit, Human↗

PubMed2005

Increasing detection rates of birth defects by prenatal ultrasound leading to apparent increasing prevalence. Lessons learned from the population-based registry of birth defects of Barcelona.

OBJECTIVE: To assess the evolving trends in prenatal ultrasound detection of birth defects and to suggest a method to avoid the bias generated by an increasing detection rate, when comparing different time periods. METHODS: In the population-based registry of birth defects of Barcelona (REDCB), 1976 cases with birth defects (1462 newborns and 514 terminations of pregnancy) were observed among 99 753 pregnancies, from 1992 to 1999. Detection rates for isolated birth defects by anatomical systems were evaluated. Since an increasing prevalence was observed in some birth defects systems, adjustment for detection rates was suggested. RESULTS: A rise in prevalence was observed in isolated birth defects involving internal organs (central nervous, respiratory, digestive, and urinary systems). Ultrasound detection rates increased in all system groups of isolated birth defects during the study period, except for cardiovascular defects. Early detection rates (before 23 weeks of pregnancy) increased in all but three systems (cardiovascular, genital and tegument). CONCLUSIONS: The apparent rise in the observed prevalence of certain birth defects may be largely due to improvements in prenatal detection methods. Population-based registries are able to measure the impact of evolving prenatal diagnosis in order to avoid biases and establish the prevalence of birth defects more accurately.

Congenital Abnormalities↗

PubMed2005

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↗

PubMed2005

Successful selective termination at 17 weeks' gestation in monochorionic monoamniotic twin pregnancy affected by twin-twin transfusion syndrome and discordant for hypoplastic left heart syndrome.

OBJECTIVES: To report a successful selective feticide in a complicated monochorionic monoamniotic (MCMA) pregnancy. METHODS: A case of MCMA pregnancy with severe twin-twin transfusion syndrome and discordant for hypoplastic left heart syndrome was diagnosed at 16 weeks' gestation. A complete ultrasound and fetoscopic surveillance was performed, ruling out cord entanglement and, thus, precluding the necessity of transecting the cord. RESULTS: The selective feticide was successfully performed by bipolar coagulation of the umbilical cord of the abnormal fetus under ultrasound guidance. The survivor twin developed normally during the rest of the pregnancy and was born at term. At 6 months of age, the infant was healthy. CONCLUSION: Selective feticide in complicated monoamniotic pregnancies can be safely performed. Cord entanglement can be confidently excluded by both ultrasound and fetoscopy, thus making the systematic transection of the umbilical cord unnecessary.

Adult↗

PubMed2004

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%).

Adolescent↗

PubMed2004

The ductus venosus in early pregnancy and congenital anomalies.

The ductus venosus (DV) is a tiny vessel leading oxygenated blood from the placenta to the fetal heart and its flow assessment has been used as an indicator of fetal acidemia. At 11 to 14 weeks, the fetuses with increased nuchal translucency also showing an abnormal DV blood flow were consistently found to be aneuploid. Early cardiac dysfunction, signaled by abnormal DV blood flow, was suggested as the underlying cause of increased nuchal translucency. Detection rates for aneuploidy with the use of DV blood flow studies range from 59 to 93% with 2 to 21% false-positive rates. In fetuses with normal karyotype, an abnormal DV flow pattern signals cardiac defects or adverse perinatal outcome.

Aneuploidy↗

PubMed2004

Localization of arginine decarboxylase in tobacco plants.

The lack of knowledge about the tissue and subcellular distribution of polyamines (PAs) and the enzymes involved in their metabolism remains one of the main obstacles in our understanding of the biological role of PAs in plants. Arginine decarboxylase (ADC; EC 4.1.1.9) is a key enzyme in polyamine biosynthesis in plants. We have characterized a cDNA coding for ADC from Nicotiana tabacum L. cv. Petit Havana SR1. The deduced ADC polypeptide had 721 amino acids and a molecular mass of 77 kDa. The ADC cDNA was overexpressed in Escherichia coli, and the ADC fusion protein obtained was used to produce polyclonal antibodies. Using immunological methods, we demonstrate the presence of the ADC protein in all plant organs analysed: flowers, seeds, stems, leaves and roots. Moreover, depending on the tissue, the protein is localized in two different subcellular compartments, the nucleus and the chloroplast. In photosynthetic tissues, ADC is located mainly in chloroplasts, whereas in non-photosynthetic tissues the protein appears to be located in nuclei. The different compartmentation of ADC may be related to distinct functions of the protein in different cell types.

Journal Article↗

PubMed2003

Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis.

We describe the finding of three cell lines involving different structural abnormalities of chromosome 8 detected in a prenatal diagnosis. Chorionic villi sampling (CVS) was performed on a pregnant woman because of advanced maternal age. Semidirect cytogenetic analysis showed a mos46,XX,i(8q)/46,XX,del(8)(p11.2) karyotype, confirmed by fluorescence in situ hybridization (FISH). Amniocentesis was subsequently performed, and the karyotype obtained was 46,XX,dup(8)(p23p11.2). The pregnancy was terminated; pathologic findings included clubfeet, clenched left hand, subcutaneous edema and bilateral hydrocephalus. Molecular studies using chromosome 8 microsatellites performed on parents' blood and fetal tissues revealed a maternal meiotic origin of the inv dup(8p) with deletion of the distal p23 region and duplication of the remaining 8p. We propose a model to explain the cytogenetic findings, which includes a first maternal meiotic error giving rise to a large dicentric isochromosome 8 present in the ovum, a second error in one of the first zygote divisions with misdivision of the dicentric 8 giving rise to a cell line with del(8p) confined to the trophoblast and another cell line with inv dup(8p) confined to the fetal tissue and a third error in the trophoblast giving rise to a further cell line with isochromosome 8q.

Abnormalities, Multiple↗

PubMed2003

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↗

PubMed2002

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↗

PubMedDate not supplied

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↗