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Biomedical subjects

W Sepulveda

Publications and source records attributed to W Sepulveda.

At least 37 records · Page 2Linked to original sources

Prenatal diagnosis of solid placental masses: the value of color flow imaging.

OBJECTIVES: To determine the value of color flow imaging in the prenatal differentiation of solid placental masses protruding from the fetal surface of the placenta. METHODS: Seven pregnancies in which a large solid mass was seen on the fetal surface of the placenta were prospectively studied. Color flow imaging was used to identify vessels within the mass and the prenatal ultrasound finding correlated with placental pathology. RESULTS: Postpartum examination of the placenta revealed four cases of chorioangioma, two cases of subchorionic thrombohematoma and one case of subamniotic hematoma. Prenatal ultrasound using color flow imaging correctly identified all cases of placental chorioangioma by the demonstration of blood flow within the mass. Conversely, absence of blood flow signals was invariably documented in both cases of subchorionic thrombohematoma and in the single case of subamniotic hematoma. Among the four cases of chorioangioma, two developed complications requiring delivery. No complications were noted in cases of avascular placental masses in this series. CONCLUSIONS: Color Doppler ultrasound plays an important role in the prenatal evaluation of solid placental masses. This technique allows the identification of those cases at increased risk of pregnancy complications which need close monitoring throughout gestation.

Adult↗

Iniencephaly: prenatal diagnosis and management.

Iniencephaly is a rare malformation characterized by the triad of occipital bone defect, cervical dysraphism and fixed retroflexion of the fetal head. Because of its almost invariable lethal prognosis, termination of pregnancy is commonplace when this condition is diagnosed before viability. In this report we describe eight cases of iniencephaly prenatally diagnosed by ultrasound between 18 and 28 weeks of gestation and discuss the subsequent obstetric management in a country where elective abortion is illegal. Prenatal karyotyping was performed in seven cases, revealing a normal complement in all fetuses. One pregnancy miscarried at 24 weeks. Uneventful vaginal delivery was accomplished in six of the remaining seven cases, one delivered spontaneously at 29 weeks and five were induced between 28-32 weeks due to increasing polyhydramnios. In the remaining case the pregnancy progressed to 35 weeks, at which time spontaneous labour began and an emergency Caesarean section was performed because of malpresentation. There were no survivors in this series. We conclude that, in countries were elective abortion is not allowed, women carrying an iniencephalic fetus may benefit from preterm induction of labour in order to avoid labour dystocia, maternal trauma during delivery and the risks of a Caesarean section.

Cesarean Section↗

Sex chromosome pentasomy (49,XXXXY) presenting as cystic hygroma at 16 weeks' gestation.

The pentasomy 49,XXXXY is one of the rarest sex chromosome defects, occurring with an estimated incidence of 1 in 85 000 male births. This condition is associated with pre- and postnatal growth deficiency, severe mental retardation, hypogenitalism, and other skeletal, facial and cardio-vascular anomalies. In this report we present such a case diagnosed prenatally by chorionic villus sampling after the ultrasound detection of cystic hygroma at 16 weeks' gestation. Although the prenatal diagnosis of cystic hygroma and its association with aneuploidy has been documented in numerous reports, sex chromosome aneuploidy, other than the 45,X karyotype, accounts for only 0.3 per cent of cases.

Adult↗

Pseudocyst of the umbilical cord: prenatal sonographic appearance and clinical significance.

OBJECTIVE: To assess the clinical significance of umbilical cord pseudocysts detected prenatally by sonography. METHODS: The prenatal sonographic findings, karyotype, and perinatal outcome in 13 fetuses with umbilical cord pseudocysts were reviewed retrospectively. RESULTS: Umbilical cord pseudocysts were diagnosed at a median gestation of 27 weeks (range 15-37). Pseudocysts were single in eight cases with cyst diameters ranging from 20 to 50 mm, and double in one case. In the remaining four cases, multiple small cystic masses measuring less than 8 mm were identified. Additional sonographic findings were noted in 11 cases; ten of these fetuses had prenatal karyotyping, which showed trisomy 18 in five cases, trisomy 13 in one case, and a 46,XX, inv ins(18;21) complement in one case. Among the seven chromosomally abnormal fetuses, umbilical cord pseudocysts were multiple in four fetuses and single in three. All chromosomally abnormal fetuses and two euploid fetuses with associated structural defects died in utero or in the neonatal period. There were no perinatal complications in either of the fetuses with isolated pseudocysts. CONCLUSION: The prenatal sonographic appearance of umbilical cord pseudocysts varied widely. These umbilical cord cystic masses were associated strongly with chromosomal disorders and structural defects, regardless of their sonographic appearance in utero.

Adult↗

Prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease.

We report a case of nonmosaic trisomy 9 presenting at 21 weeks of gestation with polycystic, echogenic horseshoe kidney, collapsed bladder, absent amniotic fluid, and intrauterine growth restriction. Color Doppler imaging demonstrated no blood flow signals from renal vessels. Fetal blood sampling confirmed a 47,XX,+9 karyotype, with no evidence of mosaicism, and increased serum beta2-microglobulin levels of 10.7 mg/l, consistent with severe renal failure. A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect. Follow-up examinations showed progressive growth restriction leading to fetal death at 33 weeks of gestation. This report demonstrates that fetuses with nonmosaic trisomy 9 may present with severe renal abnormalities and confirms that cases seen in the second and third trimesters usually have a dismal outcome.

Adult↗

Prenatal sonographic diagnosis of Aarskog syndrome.

In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder.

Abnormalities, Multiple↗

Clinical significance of first trimester umbilical cord cysts.

A cystic mass of the umbilical cord was identified by transvaginal sonography in 10 first trimester pregnancies at a mean gestational age of 8 weeks 4 days (range, 8 weeks 1 day to 9 weeks 3 days) and at a mean crown-rump length of 20.5 mm (range, 15 to 25 mm). The cyst was solitary in all cases, the mean diameter was 4.6 mm (range, 3 to 6 mm), and the location was closer to the fetal insertion in two cases, in the middle of the cord in seven cases, and closer to the placental insertion in one case. Gestational sac and yolk sac diameters as well as the fetal heart rate were within normal ranges for gestational age in all cases. Information on detailed second trimester scans was available in nine cases, demonstrating complete resolution of the cyst and normal fetal anatomic survey in each case. These nine pregnancies were followed to delivery, and normal healthy infants were delivered at term in all cases. This series suggests that the incidental detection of umbilical cord cysts in early pregnancy is not associated with an adverse pregnancy outcome.

Adult↗

Accuracy of the haemoglobin alkaline denaturation test for detecting maternal blood contamination of fetal blood samples for prenatal karyotyping.

The haemoglobin alkaline denaturation test was routinely performed in 183 fetal blood samples obtained by cordocentesis for prenatal karyotyping by adding 0.1 ml of the blood into a glass test tube containing 5 ml of water and 0.3 ml of 10 per cent KOH as the alkali reagent. The mixture was agitated gently and read at 2 minutes, at which time it was interpreted as a pure fetal blood sample or contaminated with maternal blood according to the change in colour. In order to determine the accuracy of this test to detect maternal blood contamination, the results were compared with the number of fetal and maternal cells detected by standard cytogenetic techniques in those blood samples obtained from male fetuses (n=97). Among these samples, the haemoglobin alkaline denaturation test gave an adult haemoglobin reaction in two cases (2.1 per cent); both samples showed different degrees of maternal 46,XX cells in the metaphases examined (29 of 30 cells in one case and 2 of 31 cells in the other). Conversely, of the 95 samples which gave a fetal haemoglobin reaction, the cytogenetic analysis did not reveal any maternal cells in the metaphases analysed (median 30 cells, range 20-65). We concluded that the haemoglobin alkaline denaturation test is an accurate method for excluding clinically significant maternal blood contamination of fetal blood samples obtained for prenatal karyotyping. This simple, inexpensive technique provides immediate information and, therefore, can be safely incorporated as a bedside test for analysis during fetal blood sampling procedures.

Adolescent↗

Discordant uterine artery velocity waveforms as a predictor of subsequent miscarriage in early viable pregnancies.

OBJECTIVE: Our purpose was to determine whether an abnormal uterine perfusion pattern was associated with subsequent pregnancy loss after fetal cardiac activity was documented. STUDY DESIGN: Pulsatility indexes of both the right and left uterine arteries were obtained by transvaginal color Doppler ultrasonography in 318 consecutive viable pregnancies between 6 and 12 weeks' gestation. The Delta uterine artery pulsatility index value, expressed as the highest uterine artery pulsatility index value minus the lowest value, was calculated for each pregnancy. Women were subsequently classified as having continuing pregnancies or pregnancy loss before 20 weeks' gestation. To predict subsequent pregnancy loss, Doppler findings were adjusted for maternal age, history of previous abortion, presence of subchorionic hematoma, embryonic bradycardia, and gestational age by means of multivariate logistic regression analysis. RESULTS: Twenty-four pregnancies (8%) were spontaneously aborted before 20 weeks' gestation. Both Delta uterine artery pulsatility index (odds ratio 2.9, 95% confidence interval 1.5-5.8) and history of previous abortion (odds ratio 3.1, 95% confidence interval 1.2-8.2) were significantly associated with pregnancy loss in the multivariate logistic regression analysis. The sensitivity and specificity of the multivariate logistic regression model to predict abortion were 75% and 85%, respectively, significantly higher than the diagnostic performances of qualitative and quantitative variables considered individually. CONCLUSION: Discordant uterine artery pulsatility indexes in the first trimester were strongly associated with subsequent pregnancy loss. This suggests that uterine ischemia may be implicated in certain cases of early pregnancy loss after documentation of fetal cardiac activity during the first trimester.

Abortion, Spontaneous↗

Uterine artery blood flow velocity waveforms in pregnant women with müllerian duct anomaly: a biologic model for uteroplacental insufficiency.

OBJECTIVE: The purpose of this study was to determine whether there are demonstrable alterations in uterine artery blood flow in pregnant women with müllerian duct anomaly. STUDY DESIGN: Flow velocity waveforms obtained from the placental and nonplacental uterine arteries were studied at 18 to 24 weeks' gestational age in 15 pregnant women with müllerian duct anomaly and in 30 controls. The systolic/diastolic ratios were compared and correlated with the degree of placental laterality and perinatal outcome. RESULTS: Systolic/diastolic ratio in the uterine artery was abnormal in 80% of the cases and in 10% of controls (p < 0.0001). A completely lateral placenta was found in 10 of 15 women of the study group and only in 1 of the 30 controls (p < 0.0001). Women with müllerian duct anomaly had higher systolic/diastolic ratios in the nonplacental uterine artery than those with a normal uterus (median 4.3, range 2.0 to 7.4 vs median 2.8, range 2.0 to 4.0; p < 0.001). Twelve of 15 women of the study group had poor perinatal outcome compared with 4 of the 30 controls (p < 0.001). Among those women with poor perinatal outcome, 11 of 12 (92%) in the study group and only 1 of the 4 (25%) in the control group had an abnormal systolic/diastolic ratio in the uterine arteries (p < 0.05). CONCLUSION: There is a clear association between placental laterality and high systolic/diastolic ratio in the nonplacental uterine artery in pregnant women with müllerian duct anomaly who had poor perinatal outcome. This finding suggests that unilateral placental implantation could lead to functional exclusion of one uterine artery from the uteroplacental circulation and could explain pregnancy complications in women with developmental fusion defects of the uterus.

Abortion, Spontaneous↗

Inter-twin membrane folding in monochorionic pregnancies.

This study examines the value of assessing inter-twin membrane folding in monochorionic twin pregnancies in the prediction of twin-to-twin transfusion syndrome. In 83 monochorionic twin pregnancies ultrasound scans were carried out at 10-14, 15-17 and 19-21 weeks to investigate folding of the inter-twin membrane as an early sonographic feature of inter-twin discrepancy in amniotic fluid volume. There were 23 (28%) cases of membrane folding, which was first observed in one case at 10-14 weeks, in 21 cases at 15-17 weeks and in another case at 24 weeks. In 12 (52%) of the 23 cases the pregnancy progressed to severe twin-to-twin transfusion syndrome and 10 of these were treated by endoscopic laser coagulation of the placental vascular anastomoses. In the other 11 cases there was a moderate syndrome with large discrepancies in amniotic fluid volume and fetal size, persisting throughout pregnancy. In the severe group, five pregnancies resulted in live birth of both babies, three in live birth of one and intrauterine death of the other twin and in four cases there were no survivors. In the moderate group, all babies survived and the inter-twin disparity in birth weight was more than 20%. Similarly, all 60 pregnancies with no membrane folding resulted in live births. In all three groups there was an increase in inter-twin disparity in fetal size with gestation and the greatest inter-twin disparities were in those with moderate twin-to-twin transfusion syndrome from as early as the 10-14 week scan. These findings demonstrate that folding of the inter-twin membrane occurs in about one-quarter of monochorionic twins and in about half of these there is subsequent development of severe twin-to-twin transfusion syndrome.

Extraembryonic Membranes↗

Sirenomelia sequence versus renal agenesis: prenatal differentiation with power Doppler ultrasound.

In order to assess the role of power Doppler ultrasound in the prenatal diagnosis of sirenomelia, prenatal findings in two fetuses with the sirenomelia sequence and in seven with bilateral renal agenesis were reviewed and compared. Both conditions were characterized by absence of renal vessels. However, the two common iliac arteries were always visualized in fetuses with renal agenesis, whereas absence of distal branching of the main abdominal vessel was a characteristic feature of sirenomelia. Power Doppler ultrasound allows expeditious identification of absent or non-functional renal arteries in fetuses with severe oligohydramnios. In addition, incorporation of power Doppler imaging to identify the aortic bifurcation could provide a diagnostic feature that could assist in the prenatal diagnosis of sirenomelia and in the differential diagnosis with other causes of bilateral renal agenesis.

Adult↗

Arrhythmia in early pregnancy: a predictor of first-trimester pregnancy loss.

OBJECTIVE: To determine the prognostic significance of cardiac arrhythmia detected in the first trimester. DESIGN: Cases in which embryonic arrhythmia was detected by transvaginal ultrasound between 6 and 9 weeks of gestation were retrospectively identified and reviewed. RESULTS: Embryonic arrhythmia was noted in four of 950 ultrasound examinations. There was associated ventricular bradycardia in three cases, one of which also had an atrial rate below the normal range for gestational age. No cardiac activity was detected at the follow-up examination 1 week later in three cases. In the other, the embryo was alive but there was severe growth delay and the scan the following week confirmed embryonic death. CONCLUSION: This report suggests that arrhythmia in early pregnancy is associated with subsequent pregnancy loss.

Adult↗