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Biomedical subjects

Waldo Sepulveda

Publications and source records attributed to Waldo Sepulveda.

At least 19 recordsLinked to original sources
PubMed2006

Velamentous insertion of the umbilical cord: a first-trimester sonographic screening study.

OBJECTIVE: The purpose of this study was to determine the feasibility of prenatal sonography for detecting velamentous insertion of the umbilical cord in singleton pregnancies at the 11- to 14-week scan. METHODS: The placental umbilical cord insertion site was prospectively examined at the time of the routine first-trimester scan between 11 and 14 weeks as part of ongoing first-trimester sonographic screening for chromosomal abnormalities. RESULTS: Over a 1-year period, 533 consecutive singleton pregnancies were examined by a fetal medicine specialist at a median gestational age of 12 weeks. In 5 cases, a velamentous umbilical cord insertion was diagnosed, with a prevalence rate of 1 (0.9%) per 107. The diagnosis was further confirmed at the second-trimester scan and at the time of delivery in all cases. CONCLUSIONS: The placental umbilical cord insertion site can be readily determined by sonography at the time of the 11- to 14-week scan. Sonographic examination at this early gestational age provides the opportunity for screening for velamentous insertion of the umbilical cord in the first trimester, allowing close surveillance of the pregnancy for potential complications associated with this condition.

Feasibility Studies↗
PubMed2005

Acardiac anomaly: current issues in prenatal assessment and treatment.

Acardiac anomaly is a rare condition affecting monochorionic multiple pregnancies. We review this condition with emphasis on its prenatal diagnostic features and treatment options. Due to the parasitic hemodynamic dependence of the acardiac twin on the pump twin, it is important to monitor the pump twin for signs of decompensation and, if indicated, intervene by interrupting vascular supply to the acardiac twin. The goal of treatment is to maximize the pump-twin's chance of survival. To assist with the decision of when to treat, we suggest a new classification system based on prognostic factors, specifically the size and growth of the acardiac twin and the cardiovascular condition of the pump twin. When the acardiac twin is small and no signs of cardiovascular impairment in the pump twin are present, we suggest serial ultrasound surveillance to detect any worsening of the condition. In cases with a large acardiac twin or rapid growth of the acardiac mass, we recommend prompt intervention. Once treatment is indicated, the intrafetal approach to interrupt the vascular supply to the acardiac twin appears to be superior to cord occlusion techniques as it is simpler, safer and more effective. The first line of treatment, if available, should be ultrasound-guided laser coagulation or radiofrequency ablation of the intrafetal vessels.

Embolization, Therapeutic↗
PubMed2005

Fetofetal transfusion syndrome in triplet pregnancies: outcome after endoscopic laser surgery.

OBJECTIVE: The purpose of this study was to determine the outcome of fetofetal transfusion syndrome in triplet pregnancies after treatment with endoscopic laser ablation of communicating placental vessels. STUDY DESIGN: Cases of severe fetofetal transfusion syndrome that occur in triplet pregnancies and that are treated with endoscopic laser ablation of placental anastomosis were identified from a prospectively collected fetal medicine database. Chorionicity was determined by sonography and classified as dichorionic or monochorionic. Perinatal outcome was obtained in all cases, and long-term follow-up was obtained in all pregnancies that resulted in at least 1 survivor. RESULTS: During a 6-year period, 10 cases of severe fetofetal transfusion syndrome that were treated with endoscopic laser ablation were identified, of which 7 cases were dichorionic and 3 cases were monochorionic. At least 1 fetus survived in all 7 dichorionic pregnancies and in 2 of the 3 monochorionic pregnancies. In the dichorionic pregnancies, 14 of 21 fetuses (66.7%) survived, but in the monochorionic pregnancies only 2 of 9 fetuses (22.2%) survived. CONCLUSION: Endoscopic laser ablation is feasible in triplet pregnancies that are complicated by severe fetofetal transfusion syndrome. The treatment appears to be associated with improved perinatal outcome in dichorionic, but not in monochorionic, triplets, probably because of the technical inability in achieving ablation of all the communicating vessels in monochorionic triplets.

Databases, Factual↗
PubMed2005

Discordant lower urinary tract obstruction in early twin gestations: management and outcome.

OBJECTIVE: To report our experience with the management of twin pregnancies discordant for lower urinary tract obstruction. METHODS: Cases of twin pregnancies discordant for lower urinary tract obstruction were identified from our fetal medicine database. Information on ultrasonographic findings, antenatal course, pregnancy complications, and perinatal outcome was obtained by reviewing medical records or contacting the referring obstetricians. RESULTS: Five twin pregnancies discordant for lower urinary tract obstruction were diagnosed between 11 and 15 weeks of gestation. There were 3 dichorionic and 2 monochorionic pregnancies (1 diamniotic and 1 monoamniotic). The dichorionic pregnancies were managed conservatively, resulting in a pregnancy loss of both twins in 1 case, a single fetal death at 29 weeks in 1 case, and an early neonatal death due to lung hypoplasia of the affected twin in 1 case. On the other hand, both monochorionic twin pregnancies were managed with serial vesicocenteses. In both cases, the prenatal course was complicated, 1 by premature rupture of the membranes and the other by cord entanglement, requiring delivery at 29 and 31 weeks, respectively. Among the 4 continuing pregnancies with complete perinatal outcome, none of the affected twins survived, and the structurally normal twins were delivered between 29 and 36 weeks and discharged from the hospital in good condition. CONCLUSION: Twin pregnancies discordant for lower urinary tract obstruction are at high risk of perinatal death and premature delivery. Prenatal intervention seems not to be associated with an improved perinatal outcome of the affected twin, but it may be beneficial in selected cases to attain viability of the unaffected twin.

Diseases in Twins↗
PubMed2005

Congenital dacryocystocele: prenatal 2- and 3-dimensional sonographic findings.

OBJECTIVE: The purpose of this series is to present our experience with cases of dacryocystocele diagnosed prenatally. The role of prenatal 3-dimensional sonography, as an adjunct to 2-dimensional sonography, in the prenatal assessment of these cases is emphasized. METHODS: A retrospective review of cases was conducted. Information was obtained by reviewing the sonographic reports and medical records. Outcomes were obtained from the referring obstetricians or directly from the parents. RESULTS: Ten fetuses had the diagnosis of a congenital dacryocystocele at a median gestational age of 30.1 weeks (range, 27-33 weeks). In 6 cases, the cystic lesion was unilateral, and in 4 it was bilateral, with a mean largest diameter at the time of diagnosis of 7.5 mm (range, 4-11 mm). There were no other associated findings. Three-dimensional sonography, carried out in 3 cases, clearly depicted the anomaly, the degree of intranasal extension, and swelling below the medial canthal area. Spontaneous resolution was documented prenatally in 5 fetuses, and 1 additional case resolved between the last prenatal scan and the delivery. There were no reported long-term complications associated with this finding, although 1 infant required probing at 2 months of age to resolve the dacryocystocele. CONCLUSIONS: Prenatal diagnosis of dacryocystocele is straightforward. A considerable number of lesions are bilateral, and many resolve in utero spontaneously or neonatally after minimal intervention. For those not resolving by the time of the delivery, ophthalmologic or rhinologic consultation is warranted because of potential complications. Three-dimensional sonography may provide a noninvasive method for evaluating these cystic masses and may contribute to the avoidance of additional diagnostic techniques in the neonatal period.

Adult↗
PubMed2005

Congenital megalourethra: outcome after prenatal diagnosis in a series of 4 cases.

OBJECTIVE: The purpose of this series is to describe the prenatal sonographic findings and pregnancy outcome in 4 cases of congenital megalourethra. METHODS: Three cases of fusiform-type megalourethra and 1 case of scaphoid-type megalourethtra were diagnosed prenatally by sonography between 20 and 24 weeks' gestation. The key findings for diagnosis included sonographic features of lower urinary tract obstruction in association with dilatation and elongation of the penile urethra in all 4 cases. Severe oligohydramnios was detected at the time of diagnosis in only 1 case. Prenatal chromosome analysis was available in 3 cases and revealed a normal 46,XY karyotype. Information on pregnancy outcome was available in all cases. RESULTS: The parents opted for elective termination of pregnancy in 1 case when decreased amniotic fluid volume and echogenic kidneys were documented at the follow-up scan. Among the 3 ongoing pregnancies, there were 2 premature cesarean deliveries at 28 and 31 weeks and 1 vaginal delivery at term. All neonates had severe lung hypoplasia and died in the early neonatal period. CONCLUSIONS: Congenital megalourethra is associated with poor perinatal outcome. Because this condition can be diagnosed prenatally in the context of lower urinary tract obstruction, detailed examination of the external genitalia in these cases should be mandatory.

Fatal Outcome↗
PubMed2004

First-trimester sonographic diagnosis of holoprosencephaly: value of the "butterfly" sign.

OBJECTIVE: To study the value of choroid plexus dysmorphology as a screening tool for the first-trimester sonographic diagnosis of holoprosencephaly in a high-risk population. METHODS: A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks' gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). A cross-sectional view of the fetal brain, including the visualization of both choroid plexuses (the "butterfly" sign), was obtained in all cases. RESULTS: There were 3 cases in which the butterfly sign was not identified. In these cases, the first-trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. Two of these fetuses had features of facial dysmorphism at the time of presentation and 2 had extracranial anomalies, including a cystic hygroma in 1 and a small omphalocele and polydactyly in another. Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. CONCLUSIONS: This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly.

Abnormalities, Multiple↗
PubMed2003

Perinatal outcome after prenatal diagnosis of placental chorioangioma.

OBJECTIVE: To review the prenatal complications, management, and perinatal outcome in pregnancies complicated by placental chorioangioma. METHODS: Cases of placental chorioangioma diagnosed prenatally as part of a prospective, multicentric program for fetal diagnosis and therapy were identified. All cases were evaluated with color flow imaging. In the latter part of the study, three-dimensional power Doppler angiography was also used to study the vascular pattern of the tumor. Information on maternal demographics, prenatal sonographic findings, pregnancy complications, antenatal intervention, and perinatal outcome was obtained by reviewing the medical records or contacting the referring obstetricians. RESULTS: In the 5-year period from January 1997 to December 2001, 11 cases of placental chorioangioma were diagnosed prenatally. Nine cases were diagnosed in singleton and two in twin pregnancies. Among the nine cases occurring in singletons, five (56%) were associated with pregnancy complications, including polyhydramnios (n = 3), oligohydramnios (n = 2), fetal growth restriction (n = 2), and nonimmune hydrops (n = 1). Amniodrainage was required in one of these cases, allowing prolongation of pregnancy until term. Four (44%) singletons delivered before 35 weeks. Overall, two fetuses died, including one twin due to complications of twin-twin transfusion syndrome and another with hydrops after alcohol injection into the chorioangioma. In four pregnancies, no prenatal complications were detected in spite of continuous growth and vascularity of the placental mass in three of them. CONCLUSION: Placental chorioangioma is associated with an increased risk of pregnancy complications, the most common being polyhydramnios and preterm delivery. In selected cases, amniodrainage allows continuation of the pregnancy with improving perinatal outcome. Fetuses who develop hydrops are at the highest risk for perinatal death, with limited therapeutic options being available. Close follow-up is advised, even in those cases with no associated findings at the time of the diagnosis.

Adult↗
PubMed2003

First-trimester echogenic amniotic fluid in the acrania-anencephaly sequence.

OBJECTIVE: To describe the association between echogenic amniotic fluid and first-trimester fetal acrania. METHODS: Nine fetuses with acrania were examined between 11 weeks' and 13 weeks 6 days' menstrual age for the presence of echogenic free-floating particles in the amniotic fluid. Cases were classified into 3 types according to the echogenicity of the amniotic fluid: similar to (type 0), slightly greater than (type 1), and clearly more echogenic than (type 2) that of the extracelomic fluid. RESULTS: In 1 pregnancy, no free-floating particles were identified (type 0). In 6 cases, small free-floating particles scattered within the amniotic cavity were identified, making the amniotic fluid slightly more echogenic than the extracelomic fluid (type 1). In the remaining 2 cases, the amniotic fluid was homogeneously and clearly more echogenic than the extracelomic fluid (type 2). CONCLUSIONS: A high percentage (89%) of fetuses with acrania had echogenic amniotic fluid, suggesting that this finding could potentially be used as a marker of fetal acrania in the first trimester. This finding also supports the hypothesis of the transition from acrania to anencephaly, with the unprotected brain undergoing progressive destruction from the first trimester, leading to the classic finding of anencephaly in the second trimester.

Amniotic Fluid↗
PubMed2003

Second-trimester sonographic findings in trisomy 22: report of 3 cases and review of the literature.

OBJECTIVE: To describe cases of trisomy 22 detected prenatally on second-trimester sonography and to review the literature on similar cases, with special emphasis on the prenatal findings and pregnancy outcome. METHODS: We performed follow-up second-trimester sonography and fetal karyotyping on 3 pregnant women who were referred because of abnormal findings on initial second-trimester scans. We also conducted a literature search for other reports of sonographic findings in trisomy 22. RESULTS: Fetal abnormalities shown on sonography included nuchal thickening, mild generalized skin edema, an atrioventricular septal defect, an interventricular septal defect, edema of the scalp, face, and neck, severe left pleural effusion with a marked mediastinal shift, ascites, agenesis of the diaphragm, ambiguous genitalia, a single umbilical artery, bradycardia, a multicystic left kidney, and an absent right kidney. All 3 fetuses had karyotypes indicating trisomy 22. One pregnancy was terminated at the parents' request, and 2 ended in fetal death at 23 and 26 weeks. Our literature search revealed only 1 previous report of second-trimester sonographic diagnosis of trisomy 22. We found 3 other reports describing prenatal diagnosis in the third trimester, but only limited information on the sonographic findings was available. CONCLUSIONS: Second-trimester sonography provides valuable clues for the prenatal diagnosis of several chromosomal disorders, including trisomy 22. Prenatal karyotyping is warranted if fetal growth restriction is detected in the second trimester, especially if associated with congenital defects.

Adult↗
PubMed2003

Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography.

Ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. Prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. DNA-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.

Adult↗