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Biomedical subjects

W Sepulveda

Publications and source records attributed to W Sepulveda.

At least 91 records · Page 5Linked to original sources

Common iliac artery flow velocity waveforms in fetuses with a single umbilical artery: a longitudinal study.

OBJECTIVES: In fetuses with a single umbilical artery the entire blood flow to the placenta is transported through the common and internal iliac arteries from the side of the single artery, whereas the pelvic vessels from the side of the missing artery do not participate in the fetoplacental circulation. The aim of this study was to investigate the effect of gestational age on pelvic arterial blood flow in fetuses with single umbilical artery. DESIGN: In 15 fetuses with a single umbilical artery (SUA), common iliac artery flow velocity waveforms were studied longitudinally using high resolution colour Doppler ultrasonography at three gestational ages: 18 to 20 weeks, 28 to 30 weeks, and 35 to 37 weeks. The pulsatility index was measured in each common iliac artery and mixed model analysis of variance was used to examine the effect of gestational age and side. RESULTS: There was a highly significant difference in pulsatility index between common iliac arteries at all gestational ages, the values always being higher on the side that did not participate in the fetoplacental circulation (P < 0.001). For increasing gestation, the pulsatility index fell significantly in the SUA side but remained high in the non-SUA side (P < 0.001). CONCLUSIONS: This study shows that the asymmetry in the pelvic arterial blood flow in fetuses with SUA increases as pregnancy progresses, consistent with decreasing vascular resistance in the placenta and increasing resistance in the lower extremities.

Blood Flow Velocity↗

Exencephaly in autosomal dominant brachydactyly syndrome.

Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of 'anencephaly'. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.

Adult↗

Fetal cholecystomegaly: a prenatal marker of aneuploidy.

The fetal gall bladder can now be easily identified during the second and third trimesters using high-resolution ultrasonography. In this report we present eight fetuses with an enlarged gall bladder detected on prenatal ultrasonography at a mean gestational age of 24.6 weeks (range 19-31 weeks). Additional ultrasonographic findings were present in four cases: fetal anomalies and intrauterine growth retardation in three and polyhydramnios in one. Of those cases associated with fetal anomalies, one women underwent amniocentesis at 21 weeks revealing trisomy 18. The other two declined prenatal karyotyping; neonatal karyotyping revealed trisomy 13 in one and trisomy 18 in the other. Although an enlarged fetal gall bladder can be a normal variant in the second and third trimesters, the prenatal detection of cholecystomegaly should prompt a search for associated anomalies and other markers of aneuploidy. If found, prenatal karyotyping should be considered.

Aneuploidy↗

Prenatal findings in generalized amyoplasia.

Amyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post-mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases.

Adult↗

Third-trimester hyperechogenic bowel in Down syndrome.

The association between second-trimester hyperechogenic bowel and Down syndrome has been well established in the literature. In this report we present a case of Down syndrome in which this finding was only detected during the third-trimester scan, after normal bowel echogenicity was documented in the second trimester. This report suggests that hyperechogenic bowel could be a late manifestation of Down syndrome.

Adult↗

Uterine artery blood flow response to correction of amniotic fluid volume.

OBJECTIVE: Our purpose was to investigate whether acute alterations of amniotic fluid volume affect uteroplacental perfusion. STUDY DESIGN: Three groups of patients of comparable gestational age were studied in a fetal medicine referral unit: (1) eight pregnancies with severe polyhydramnios because of twin-twin transfusion syndrome undergoing therapeutic amnioreduction, (2) seven with severe oligohydramnios undergoing diagnostic amnioinfusion, and (3) six control women having invasive procedures of similar duration without manipulation of amniotic fluid volume. Color Doppler imaging was used to measure uterine artery impedance index values and quantitative blood flow before and within 15 minutes of the end of the procedure. RESULTS: Quantitative flow measurements increased after amnioreduction (74% median increase of volume flow, range 22% to 329%, p < 0.01) and decreased after amnioinfusion (33% median decrease of volume flow, range 17% to 51%, p < 0.05). Impedance index values increased after amnioinfusion (25% median increase in pulsatility index, range 4% to 71%, p < 0.05) and did not alter with amnioreduction. There were no significant changes in the control group. CONCLUSION: Acute changes in amniotic fluid volume alter uteroplacental perfusion. In twin-twin transfusion syndrome amelioration in uterine flow may improve fetal condition and explain in part the success of serial amnioreduction therapy.

Amniotic Fluid↗

Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios.

OBJECTIVE: Our purpose was to examine the potential of color flow imaging to assess the presence of renal arteries in second-trimester pregnancies complicated by severe oligohydramnios. STUDY DESIGN: Thirty-three consecutive second-trimester pregnancies referred with severe oligohydramnios were prospectively studied with high-resolution color Doppler ultrasonography to establish the presence or absence of renal arteries. Prenatal findings were correlated with the presence or absence of fetal kidneys at postmortem or postnatal examination. RESULTS: Neither renal artery was visualized in eight fetuses; postmortem examination confirmed bilateral renal agenesis in seven and unilateral renal agenesis with a contralateral atrophic multicystic kidney in the other. Only one renal artery was seen in three; postmortem examination demonstrated unilateral renal agenesis in two fetuses and bilateral multicystic dysplastic kidneys in the other. Postmortem or postnatal evaluation confirmed the presence of both kidneys in all 22 fetuses in which both renal arteries were identified prenatally. CONCLUSIONS: Color Doppler ultrasonography is useful in the prenatal evaluation of fetuses with severe second-trimester oligohydramnios to demonstrate the presence or absence of renal arteries. This technique should be added to the armamentarium of prenatal tests to evaluate second-trimester fetuses with severe oligohydramnios.

Female↗

Ultrasonographic measurement of the dividing membrane in twin pregnancy during the second and third trimesters: a reproducibility study.

OBJECTIVE: Our purpose was to examine the reproducibility of intertwin membrane thickness measurements used to predict chorionicity in twin pregnancies. STUDY DESIGN: Twenty-seven twin pregnancies were scanned with high-resolution ultrasonography on 52 occasions during the second and third trimesters. Two observers, blind to other criteria of chorionicity, measured the dividing membrane twice in five different sites (total measurements 1040). The data were log-transformed and the coefficient of repeatability calculated as a measure of intraobserver variability. Interobserver variability was estimated by the Bland and Altman 95% limits of agreement. Random variation was assessed with the restricted maximum likelihood procedure in Genstat. RESULTS: The overall estimate of the coefficient of repeatability was 2.14, indicating that 95% of repeated measurements would be expected to be within 114% of each other. Measurements taken close to the placenta (up to 3 cm) were the most repeatable and displayed no bias when repeated. Coefficients of repeatability at this site ranged from 1.42 to 1.91, with no evidence of consistent differences between monochorionic and dichorionic twins. Gestational age was not significantly associated with membrane thickness for any of the models. The pregnancy type x subject x observer and pregnancy type x subject x site interactions were statistically significant (p < 0.001 and p < 0.005, respectively), implying that interobserver variability depends on the subject being measured, the site of sampling, and chorionicity. CONCLUSION: Ultrasonographic measurement of membrane thickness has high intraobserver and interobserver variability in the second and third trimesters. Our findings provide an explanation for the suboptimal accuracy reported with this method in determining chorionicity in the second and third trimesters.

Chorion↗

Accuracy of prenatal determination of RhD type status by polymerase chain reaction with amniotic cells.

OBJECTIVE: Our purpose was to determine the accuracy of RhD typing by use of amniocytes obtained at amniocentesis in RhD-negative women. STUDY DESIGN: One hundred thirty-five RhD-negative women undergoing amniocentesis for management of suspected alloimmunization (n = 95) or routine second-trimester cytogenetic indications (n = 40) were studied. Amniocytes were then used as template to amplify specific portions of the Rh D and Rh CcEe genes by polymerase chain reaction. The fetal RhD type was confirmed by serologic techniques either after fetal blood sampling or cord blood samples at birth. RESULTS: Thirty-six fetuses were serologically typed as RhD negative and all 36 were typed RhD negative by polymerase chain reaction. Ninety-eight fetuses were serologically typed as RhD positive; of these, 96 were correctly typed as RhD positive and two were incorrectly typed as RhD negative, with an overall error rate of 1.4%. Both of the errors occurred in a single batch of six samples tested at the same time. In one of these cases the fetus had mild Rh alloimmune disease and required exchange transfusion at birth. In the second case the fetus had severe hydrops fetalis and died in utero at 28 weeks. Deoxyribonucleic acid isolated from fetal blood was tested with the same polymerase chain reaction technique after delivery, and in both cases the fetus was correctly typed as RhD positive. Deoxyribonucleic acid amplification repeatedly failed in one case. CONCLUSION: Prenatal fetal RhD typing by polymerase chain reaction with amniotic fluid cells is accurate and reliable. In sensitized pregnancies it allows early management of Rh disease and avoids invasive procedures in RhD-negative fetuses. In nonsensitized pregnancies it avoids the use of anti-RhD immunoglobulin after invasive procedures or during pregnancy. To eliminate the possibility of genetic and laboratory sources of errors, we suggest using different sets of primers at two different loci (e.g., exon 4 to 5 and exon 10).

Amniocentesis↗

Acute maternal hydration in third-trimester oligohydramnios: effects on amniotic fluid volume, uteroplacental perfusion, and fetal blood flow and urine output.

OBJECTIVE: Our purpose was to determine whether acute maternal hydration in pregnancies with third-trimester oligohydramnios (1) increases amniotic fluid index and hourly fetal urine production rate and (2) alters uteroplacental perfusion and fetal blood flow. STUDY DESIGN: Ten women with third-trimester oligohydramnios (amniotic fluid index < or = 5 cm) and 10 controls with normal amniotic fluid volume (amniotic fluid index > 7 cm) were prospectively recruited for this study. Maternal plasma and urine osmolality, amniotic fluid index, hourly fetal urine production rate, and Doppler flow velocimetry of maternal uterine artery and fetal umbilical, descending aorta, middle cerebral, and renal arteries were determined before and after oral hydration by having the patient drink 2 L of water over 2 hours. RESULTS: There was a significant reduction in maternal plasma (p < 0.05) and urine osmolality (p < 0.0001) in both groups after short-term oral hydration. Hydration increased amniotic fluid volume in women with oligohydramnios (mean change in amniotic fluid index 3.2 cm, 95% confidence intervals 1.1 to 5.3; p < 0.02) but not in those with normal amniotic fluid volume (mean change in amniotic fluid index -2.0, 95% confidence intervals -4.1 to +0.2). The hourly fetal urine production rate, however, did not increase in either group (mean change in hourly fetal urine production rate 3.5 ml/hr, 95% confidence intervals -11.7 to +18.7 and -6.8 ml/hr, 95% confidence intervals -2.9 to -10.7, respectively). Hydration was associated with an increase in uterine artery mean velocity in the oligohydramnios group (mean change in mean velocity 16.7 cm/sec, 95% confidence intervals 8.0 to 25.3; p < 0.006) but not in controls (mean change in mean velocity 1.2 cm/sec, 95% confidence intervals -19.7 to +22.1). There was no change in pulsatility index or in velocity in any of the fetal vessels studied in either group. CONCLUSIONS: Short-term maternal oral hydration increases the amniotic fluid index in women with third-trimester oligohydramnios. Although the mechanism for this effect remains unclear, it could not be accounted for by fetal urination in this study but instead was associated with improved uteroplacental perfusion.

Amniotic Fluid↗

Prenatal detection of preaxial upper limb reduction in trisomy 18.

BACKGROUND: Abnormalities of the upper and lower extremities, such as club feet, rocker-bottom feet, and abnormal hand posturing, are frequently detected prenatally in trisomy 18 fetuses. Aplasia of the radius, usually associated with the absence or hypoplasia of the first metacarpal and thumb, is the most prevalent reduction malformation in trisomy 18 infants. Because this anomaly is easily missed during prenatal ultrasonography, the role of prenatal detection of this particular preaxial upper limb reduction has not been emphasized. CASES: Three cases of trisomy 18 in which preaxial upper limb reduction (radial aplasia) was identified prenatally by ultrasound are reported. Although in all cases there were additional ultrasonographic findings suggestive of trisomy 18, the prenatal detection of preaxial upper limb reduction facilitated the diagnosis. CONCLUSION: Ultrasonographic examination of fetal forearms for the detection of preaxial upper limb reduction should be a routine part of the prenatal evaluation of fetuses in whom trisomy 18 is suspected.

Abnormalities, Multiple↗

Are routine alpha-fetoprotein and acetylcholinesterase determinations still necessary at second-trimester amniocentesis? Impact of high-resolution ultrasonography.

OBJECTIVE: To audit routine measurement of alpha-fetoprotein (AFP) and acetylcholinesterase in amniotic fluid (AF) samples obtained at second-trimester amniocentesis. METHODS: We reviewed retrospectively 1737 consecutive AF specimens obtained for cytogenetic evaluation over a 4-year period and routinely assayed for AFP and acetylcholinesterase. In all instances, high-resolution ultrasonography was performed before amniocentesis. Details of pregnancy outcome of all cases with AF AFP levels greater than 2.0 multiples of the median and a positive or faint acetylcholinesterase band were obtained. RESULTS: There were 31 abnormal results (1.8%, 1 of 56). Of these, 25 cases had elevated AF AFP and/or positive acetylcholinesterase. Ultrasonography correctly identified all 18 fetuses with anomalies associated with abnormal levels of these biochemical markers, including open neural tube defects and/or anterior abdominal wall defects (17 cases) and fetal hydrops (one). In the remaining seven, no fetal anomalies were detected, and all neonates were structurally normal after birth. In addition, six pregnancies with faint acetylcholinesterase and normal AF AFP showed no fetal abnormalities at ultrasonographic examination and post-delivery. CONCLUSIONS: High-resolution ultrasonography was more accurate than AF biochemistry in the detection of congenital anomalies associated with elevated AFP levels and acetylcholinesterase in the AF. Routine measurement of these biochemical markers in AF samples obtained for cytogenetic analysis appears to have a very low yield and would therefore not be cost-effective in practices where high-resolution ultrasonography is performed before amniocentesis.

Acetylcholinesterase↗

Ablation of acardiac twin by alcohol injection into the intra-abdominal umbilical artery.

BACKGROUND: Twin reversed arterial perfusion sequence is a rare complication of monochorionic twinning, in which the normal pump twin perfuses the abnormal acardiac twin in a reversed fashion via an artery-to-artery placental anastomosis. Mortality in the normal twin exceeds 50% as a result of preterm labor, polyhydramnios, and congestive heart failure. CASE: A twin pregnancy complicated by the twin reversed arterial perfusion sequence developed early hemodynamic decompensation in the pump twin with increasing size of the acardiac twin. Ablation of the acardiac twin at 23 weeks' gestation was achieved successfully by injecting 1 mL of absolute alcohol into the intra-abdominal portion of the single umbilical artery. CONCLUSION: Direct ultrasound-guided intravascular injection of absolute alcohol is an easy and straightforward technique to occlude circulation to the acardiac twin. This vessel can be identified easily by color Doppler ultrasonography away from the main venous trunk. Selection of this target, rather than occlusion at the level of the umbilical cord, could reduce the risks of cord accidents and inadvertent intravenous injection of the ablative material.

Abdomen↗

Discordant blood flow velocity waveforms in left and right brachial arteries in growth-retarded fetuses.

OBJECTIVE: To determine if the increase in cerebral blood flow ("brain-sparing" effect) with fetal hypoxemia is associated with discordant hemodynamics in the upper extremities. METHODS: We studied 12 fetuses with severe growth retardation, absent or reverse end-diastolic blood flow in the umbilical artery, and low pulsatility index (PI) in the middle cerebral artery, and 12 appropriately grown control fetuses with normal fetoplacental Doppler studies. The right and left brachial arteries were identified by high-resolution color Doppler ultrasonography, and the PI was measured in each brachial artery. RESULTS: All growth-retarded fetuses had lower impedance indices in the right than in the left brachial artery (mean delta PI 1.0, 95% confidence interval [CI] 0.7-1.3, P < .001). No differences in the brachial artery impedance indices were found in control fetuses matched for gestational age (mean delta PI 0.0, 95% CI -0.2 to 0.2). CONCLUSIONS: Left and right brachial artery blood flow velocity waveforms are discordant in fetuses with growth retardation and cerebral vasodilation. Because the right arm receives its blood supply from the same source as the brain (brachiocephalic artery) and given the proximity of the left subclavian artery to the ductus arteriosus, we speculate that this might be the result of increased blood flow into the brachiocephalic circulation and/or functional differences in the distribution of left and right ventricular output within the aortic arch in response to fetal hypoxemia.

Birth Weight↗

Early prenatal diagnosis of holoprosencephaly: the value of transvaginal ultrasonography.

Holoprosencephaly is a rare condition characterized by different degrees of fused ventricles resulting from the failure of the prosencephalon to cleave during embryonic life. In this report we present a case of alobar holoprosencephaly diagnosed prenatally at 15 weeks' gestation in a woman with a family history of open neural tube defect. The diagnosis was initially missed because only suboptimal views of the fetal brain were obtained with transabdominal ultrasonography due to fetal position; however, a better depiction of brain anatomy was obtained using the transvaginal approach, allowing the detection of a single ventricle and fused thalami. We conclude that transvaginal ultrasonography is not only important for the early prenatal diagnosis of central nervous system abnormalities but also for enhancing brain visualization when transabdominal examination of the fetal head is limited due to maternal and fetal factors.

Adult↗