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Biomedical subjects

J M Martínez

Publications and source records attributed to J M Martínez.

At least 19 recordsLinked to original sources
PubMed2006

Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve.

OBJECTIVES: To analyze fetal echocardiographic findings of absent pulmonary valve syndrome (APVS), its association with chromosomal and extracardiac anomalies including nuchal translucency (NT) and the outcome after diagnosis. METHODS: Data of 14 fetuses with confirmed APVS retrospectively collected in two tertiary referral centers between 1998 and 2004 were analyzed. The variables examined were: reason for referral, gestational age at diagnosis and associated abnormalities, including first trimester NT thickness. Cardiac evaluation included measurement of cardiothoracic ratio, diameter of pulmonary arteries and Doppler flow in the pulmonary trunk. Information was retrieved from clinical files, recorded videotapes and stored images. Karyotyping including examination for the 22q11 deletion was performed in all cases. RESULTS: Mean gestational age at diagnosis was 28 weeks, with 5/14 (36%) diagnosed before 22 weeks. In 13/14 (93%) there was an associated ventricular septal defect (subaortic in 12 fetuses and inlet-type in one) and all 13 had tetralogy of Fallot. Enlargement of the central pulmonary arteries and cardiomegaly were present in all cases diagnosed after 22 weeks. Of the five fetuses in which APVS was detected before 22 weeks, four (80%) had a normal pulmonary trunk diameter, two (40%) had normal pulmonary branches and three (60%) had normal cardiac size. The arterial duct was absent in 11/14 (79%). A correlation between presence of the arterial duct and the size of the central pulmonary arteries or cardiomegaly could not be established. Increased NT was observed in 4/10 cases (40%) for which this information was available. 22q11 microdeletion was diagnosed in three fetuses (21%). There were five terminations of pregnancy, one intrauterine death, five neonatal deaths and one infant death. Of the six neonates with respiratory distress, only one (17%) survived and of the eight babies in whom there was an intention to treat, two survived (25%). CONCLUSIONS: APVS can be accurately diagnosed by fetal echocardiography but screening ultrasound in the mid-second trimester is likely to have a low detection rate, probably due to the incomplete expression of the disease at this point. Many fetuses with APVS have an increased NT in the first trimester and this may help an earlier recognition of the defect. The most common associated karyotype anomaly is 22q11 microdeletion. Enlargement of the central pulmonary arteries is mainly related to the gestational age at diagnosis. Our results confirm that the outlook for these patients is extremely poor.

Adult↗
PubMed2006

Sequential changes in uterine artery blood flow pattern between the first and second trimesters of gestation in relation to pregnancy outcome.

OBJECTIVE: To describe sequential changes in uterine artery waveform between the first and second trimesters of gestation and to analyze their association with the subsequent risk of hypertensive disorders and fetal growth restriction (IUGR). METHODS: Sequential uterine artery Doppler recordings were obtained in a final cohort of 870 singleton pregnancies over two gestational age intervals: 11-14 weeks and 19-22 weeks. The left and right uterine arteries were examined by color and pulsed Doppler and the mean pulsatility index (PI) as well as the presence of a bilateral protodiastolic notch were recorded during both intervals. Pregnancies were followed for occurrence of hypertensive disorders and IUGR. RESULTS: Mean uterine artery PI showed a significant linear decrease within each of the two intervals considered, while the prevalence of a bilateral notch showed decreasing values only throughout 11-14 weeks of gestation. Sixty-four (7.3%) pregnancies developed a hypertensive disorder and/or IUGR, including three (0.34%) cases of gestational hypertension, 24 cases of pre-eclampsia (2.75%) and 37 (4.25%) of IUGR. Compared with pregnancies with a normal outcome, complicated pregnancies showed a significantly higher prevalence of a bilateral notch and a higher mean PI in each of the two intervals studied. Compared with normal pregnancies, complicated pregnancies had a significantly higher persistence of a bilateral notch (30% vs. 8%), a higher proportion of women with an abnormal first-trimester uterine artery PI shifting to normal in the second trimester (14% vs. 4%) and a higher incidence of a normal first-trimester mean PI that shifted to abnormal in the second trimester (13% vs. 4%). Persistence of an abnormal mean PI from the first to the second trimester identified the group with the greatest risk for adverse perinatal outcome (OR, 10.7; 95% CI, 3.7-30.9). In addition, women in whom the uterine artery mean PI shifted from abnormal to normal between the two trimesters and women in whom the reverse shift occurred showed a similar intermediate risk (OR, 5; 95% CI, 2.1-10.6), comparable to that in women with persistence of a bilateral notch (OR, 5.6; 95% CI, 2.9-10.7). CONCLUSIONS: The sequence of changes in uterine flow between the first and second trimesters correlates with the subsequent development of hypertensive disorders and IUGR. Women with a persistent abnormal mean PI represent the group with the greatest risk for adverse perinatal outcome.

Adolescent↗
PubMed2006

Reference ranges for Doppler parameters of the fetal aortic isthmus during the second half of pregnancy.

OBJECTIVE: To establish reference ranges for blood flow velocity waveforms (FVW) of the fetal aortic isthmus (AoI) during the second and third trimesters of pregnancy. METHODS: This was a prospective cross-sectional observational study involving 458 uncomplicated singleton pregnancies between 19 and 37 weeks of gestation. Fetal AoI Doppler parameters were assessed in either the longitudinal aortic arch view or the three vessels and trachea view. Regression analysis was used to determine gestational-age-specific reference ranges and to construct nomograms for the following Doppler parameters: pulsatility index (PI), resistance index (RI) and peak systolic (PSV), end-diastolic (EDV) and time-averaged maximum (TAMXV) velocities. Intra- and interobserver reproducibility were evaluated by calculating intraclass correlation coefficients (ICCs) and limits of agreement. RESULTS: Reliable FVW in the AoI were obtained in all cases. Acceptable intra- and interobserver reproducibility was obtained. With advancing gestation, there was a significant increase in PSV, TAMXV and PI, whereas RI and EDV remained constant during the second half of pregnancy. No cases of absent or reversed flow during diastole were detected. CONCLUSION: Normal data of the fetal AoI blood FVW throughout the second and third trimesters of pregnancy are provided. The reported Doppler profiles may be of clinical use in the assessment of hemodynamically compromised growth-restricted fetuses.

Adult↗
PubMed2006

[Accuracy of indirect estimates of renal function in advanced chronic renal failure patients].

Cockcroft-Gault (CG) and Modification of Diet in Renal Disease (MDRD) formula are indirect estimates of renal function which have been widely accepted, though their accuracies have been scarcely validated in advanced chronic renal failure. The purpose of this study was to determine the accuracy (bias and precision) of these formulas in advanced CRF patients. The study group consisted of 99 unselected patients (62 +/- 15 years, 59 females) with advanced CRF. The glomerular filtration rate (GFR) was measured by Tc(99m) DTPA. Simultaneously, estimates of GFR by CG corrected for 1.73 m2 and MDRD (formula 7) were calculated. Agreement was evaluated graphically, bias was assessed by mean and median difference, and precision by median absolute differences and Bland-Altman plots. Mean GFR by DTPA, CG and MDRD were: 16.24 +/- 4.38 and 16.77 +/- 4.65 and 13.58 +/- 4.27 ml/min/1.73 m2, respectively. MDRD equation significantly underestimated GFR-DTPA (p = 0.0001). Both CG and MDRD correlated significantly with GFR-DTPA (R = 0.53 and R = 0.62, respectively). CG formula performed better than the MDRD equation with respect to bias (0.30 vs -3.24 ml/min/1.73 m2, p = 0.0001), and precision (0.58 vs. -3.11 ml/min/1.73 m2, p = 0.0001). By multiple linear regression, the best determinants of the error of the estimation by CC formula were: serum creatinine (beta = -0.58; p < 0.0001), age (beta = -0.62; p < 0.0001), and body mass index (beta = 0.26, p = 0.004), and by MDRD formula were: serum creatinine (beta = -0.38; p < 0.0001), and body mass index (beta = -0.20, p = 0.03). In conclusion, in unselected patients with advanced chronic renal failure, estimates by CC formula were more accurate than those obtained by MDRD formula. Serum creatinine was the main source of error of the estimation of GFR by both formulas, though demographic and anthropometric characteristics influenced as well on their accuracies.

Disease Progression↗
PubMed2005

Antimalarial myopathy: an underdiagnosed complication? Prospective longitudinal study of 119 patients.

OBJECTIVES: To evaluate the prevalence and incidence of antimalarial myopathy in patients with rheumatic diseases treated with antimalarial drugs. METHODS: Over a three year period, all patients with rheumatic diseases who were taking antimalarial drugs were studied. Serum muscle enzymes were assessed at the time of inclusion and every six months thereafter. Muscle strength, electromyography (EMG), and muscle biopsy were assessed in patients with a persistent muscle enzyme disturbances. RESULTS: 119 patients were included (111 chloroquine, eight hydroxychloroquine). Of these, 22 (18.5%) had a persistent muscle enzyme disturbance: lactate dehydrogenase 19/22 (86%); creatine kinase 7/22 (32%), and aldolase 3/22 (14%). Findings of antimalarial myopathy were detected in 3/15 biopsied patients (20%) by light microscopy and in all 15 by electron microscopy. Eleven patients had myopathy at the time of inclusion (prevalence 9.2%) and four patients developed muscle injury during follow up (annual incidence 1.2%). Muscle weakness was observed in 8 of 15 patients with biopsy proven myopathy, giving a prevalence of clinical antimalarial myopathy of 6.7%. All these patients also had a myopathic pattern on electromyography. CONCLUSIONS: The prevalence of antimalarial myopathy is higher than previously recognised when muscle enzyme determination is used as a screening method. When a persistent muscle enzyme disturbance is observed, clinical and electromyographic studies should be undertaken periodically to detect the development of clinical myopathy. In cases of clinical myopathy, an anatomical-pathological tissue study, including an ultrastructural study, is mandatory to confirm the diagnosis.

Adult↗
PubMed2005

Prenatal diagnosis of a right ventricular diverticulum complicated by pericardial effusion in the first trimester.

A ventricular diverticulum associated with a large pericardial effusion was diagnosed at 13 weeks of gestation. The pericardial effusion resolved spontaneously by 20 weeks and the diverticular size remained the same during pregnancy. In the postnatal period the neonate underwent surgical correction of both the diverticulum and associated ventricular and atrial septal defects. Our case indicates that congenital ventricular diverticulum may be associated with a good perinatal outcome.

Adult↗
PubMed2005

Doppler assessment of fetal aortic isthmus blood flow in two different sonographic planes during the second half of gestation.

OBJECTIVE: To compare the reliability of Doppler blood flow measurements of the fetal aortic isthmus (AoI) according to whether the sampling plane is obtained from the traditional longitudinal aortic arch (LAA) view or the more recently described three vessels and trachea (3VT) view of the fetal upper mediastinum. METHODS: Doppler blood flow measurements of pulsatility index (PI), resistance index (RI), peak systolic (PSV), end-diastolic (EDV) and time-averaged maximum (TAMXV) velocities were performed in the AoI of 40 fetuses between 24 and 36 weeks of gestation. All measurements were sampled in two different sonographic planes of the AoI: the LAA view, at a few millimeters beyond the origin of the left subclavian artery, and the 3VT view, just before the V-shaped junction of the aortic and ductal arches. All scans were performed by the same observer. The reliability of Doppler blood flow measurements was assessed by calculating intraclass correlation coefficients (ICCs) and limits of agreement between the two different sonographic sites evaluating the AoI. RESULTS: Mean values of PI, RI, PSV, EDV and TAMXV were similar in the LAA and 3VT views. The PI and vascular velocities were reliably measured from both sonographic sites. ICCs for variability of measurements were 0.78, 0.63, 0.63, 0.60 and 0.55 for PI, RI, PSV, EDV and TAMXV, respectively. Limits of agreement revealed minimal disagreement between the two sites of evaluation of the AoI for all measurements. CONCLUSIONS: On the basis of our observations, Doppler blood flow measurements across the fetal AoI can be reliably obtained from both the 3VT and the traditional LAA sonographic views. Since the transverse upper thoracic 3VT plane is achievable in most fetal positions, Doppler study of the AoI appears to be easier than expected.

Aorta, Thoracic↗
PubMed2005

Uterine artery Doppler at 11-14 weeks of gestation to screen for hypertensive disorders and associated complications in an unselected population.

OBJECTIVES: To establish reference values for the first-trimester uterine artery (UtA) pulsatility index (PI) and to investigate the role of UtA Doppler in the early prediction of hypertensive disorders and their associated complications in an unselected Mediterranean population. METHODS: A prospective study including 1091 consecutive singleton pregnancies undergoing routine early ultrasound screening at 11-14 weeks of gestation was performed. The left and right UtA were examined by color and pulsed Doppler transvaginally. The mean PI and the presence of bilateral protodiastolic notching were cross-sectionally recorded. Reference ranges were calculated and the pregnancies were followed for occurrence of pre-eclampsia, gestational hypertension, intrauterine growth restriction, placental abruption and stillbirth. The sensitivity and predictive values of a mean UtA-PI>95th percentile and the presence of bilateral notching in the prediction of these pregnancy complications were calculated. RESULTS: A total of 999 women were finally included. Both the mean UtA-PI and the prevalence of bilateral notches showed a significant linear decrease between 11 and 14 weeks' gestation. Sixty-seven (6.7%) pregnancies developed at least one of the formerly described complications, including 22 (2.2%) cases of pre-eclampsia and 37 (3.7%) cases with intrauterine growth restriction. Compared with women with a normal outcome, complicated pregnancies showed a significantly higher mean PI (2.04 vs. 1.75; P<0.05, t-test) and a higher prevalence of bilateral notching (58% vs. 41%; P<0.05, Chi-square test). Using the 95th percentile in mean UtA-PI as a cut-off, 23.9% (95% CI, 13.7-34.1) of complicated pregnancies and 30.8% (95% CI, 5.68-55.85) of severe cases were identified. CONCLUSIONS: Our results suggest that pregnancies with an increased risk of developing hypertensive disorders and related complications already have an abnormally increased UtA-PI in early pregnancy. However, the use of a single uterine Doppler measurement for screening purposes in unselected early pregnancy populations has limited clinical value. The use of UtA-PI combined with other screening tests needs to be determined by further investigation.

Abruptio Placentae↗
PubMed2004

Ultrasound assessment of venous blood flow before and after laser therapy: approach to understanding the pathophysiology of twin-twin transfusion syndrome.

OBJECTIVE: To estimate direction and volume of blood exchange between the donor twin and recipient twin by ultrasound assessment of blood flow in the umbilical vein before and after selective laser photocoagulation of communicating vessels (SLPCV) for twin-twin transfusion syndrome (TTTS). METHODS: Forty-one TTTS patients underwent Doppler examination of the umbilical vein before and 24 h after SLPCV. The diameter and mean time-averaged velocity of the umbilical vein were estimated. Total umbilical venous flow (TUVF) was calculated as follows: TUVF (mL/min) = mean time-averaged velocity (cm/s) x mean cross-sectional area (cm2) x 60 (s). RESULTS: TUVF was significantly higher in the recipient (111.2 mL/min) than in the donor twin (44.8 mL/min) before SLPCV (P < 0.0001). However, TUVF was no different between the recipient and the donor twin after SLPCV (93.1 vs. 70.7 mL/min, recipient and donor twin, respectively, P = 0.11). The donor twin's TUVF increased after surgery (P < 0.0001), while the recipient twin's TUVF decreased (P = 0.041). The median postoperative increase in the donor twin's TUVF of 25.9 mL/min had a corresponding decrease of TUVF in the recipient twin of 18.1 mL/min (P = 0.27). CONCLUSIONS: Our data suggest that untreated TTTS is characterized by excessive umbilical venous blood flow in the recipient twin relative to the donor twin. Laser surgery results in concordant changes in umbilical venous flow in opposite directions between the donor and recipient twins, eliminating the initial imbalance. Our results lend support to the fundamental hypothesis of unbalanced blood flow exchange (net flow from donor to recipient) between monochorionic twins as the cause for TTTS and that laser surgery eliminates the pathophysiological cause.

Blood Flow Velocity↗
PubMed2004

The geography of the highest mortality areas in Spain: a striking cluster in the southwestern region of the country.

AIMS: To determine the areas of Spain with the most increased mortality risk. METHODS: Age adjusted relative risk of death by gender was estimated in each of 2218 small areas of the country using a non-parametric empirical Bayes method. To determine areas with "significantly increased risk" a Poisson based score test was used. RESULTS: Mapping of the highest risk areas showed a striking geographical clustering in the southwestern region of the country. This region, comprising 8% of the Spanish population, accounts for about one third (2884 deaths) of the total excess mortality.

Cluster Analysis↗
PubMed2003

The role of Doppler studies in predicting individual intrauterine fetal demise after laser therapy for twin-twin transfusion syndrome.

OBJECTIVE: To investigate the role of Doppler studies in predicting individual fetal demise in patients scheduled for selective laser photocoagulation of communicating vessels (SLPCV) for twin-twin transfusion syndrome (TTTS). METHODS: Doppler studies of the umbilical artery, umbilical vein, ductus venosus, tricuspid valve regurgitation and middle cerebral artery were performed in the donor and recipient twins before and 24 hours after SLPCV. Results were analyzed cross-sectionally and longitudinally. As multiple comparisons were made, an a priori alpha rejection was set at P < 0.001. RESULTS: One hundred and ten consecutive patients were available for analysis. Overall fetal survival was 68.6% (151/220) with at least one survivor in 88.2% (97/110) of cases. Absent or reversed end-diastolic velocity in the umbilical artery of the donor twin was the only preoperative Doppler result predictive of intrauterine fetal demise (IUFD) (10/15, 66.7%, P < 0.001). Postoperatively, reversed flow during atrial contraction in the ductus venosus of the donor twin showed a trend towards prediction of IUFD of this fetus (4/5, 80%, P = 0.007). No other Doppler studies, including the longitudinal analyses, were predictive of IUFD. CONCLUSIONS: Our data suggest that preoperative absent or reversed end-diastolic velocity in the umbilical artery may be useful in predicting individual fetal demise of the donor twin in TTTS patients scheduled for SLPCV. This may reflect the role of decreased individual placental mass that may be associated with some donor twins. The inability of other Doppler studies to predict individual IUFD may be explained preoperatively by the effect of the interfetal vascular connections on the individual Doppler signals and postoperatively by the effect of surgery or the timing of the assessment. Our findings may be important in patient counseling, in furthering understanding of the disease, and perhaps in improving surgical technique.

Cross-Sectional Studies↗
PubMed2003

Contraction stress test versus ductus venosus Doppler evaluation for the prediction of adverse perinatal outcome in growth-restricted fetuses with non-reassuring non-stress test.

OBJECTIVE: To compare Doppler evaluation of the ductus venosus and contraction stress test (CST) in the prediction of adverse perinatal outcome in growth-restricted fetuses with evidence of hemodynamic redistribution and a non-reactive non-stress test (NST). METHODS: Data were collected from all singleton pregnancies seen in our Fetal Surveillance Unit who underwent antenatal monitoring for fetal growth restriction, non-reactive NST and arterial redistribution beyond 26 weeks of pregnancy. Patients were divided into four groups based on their CST and ductus venosus waveform results. Perinatal outcome was evaluated by means of four variables: the need for admission to the neonatal intensive care unit (NICU), need for neonatal intubation, an umbilical artery pH < 7.10 and significant neonatal morbidity. Outcome was compared among fetuses delivered within 3 days of their antenatal test. Logistic regression analysis was used to analyze the relation between predictive and outcome variables. RESULTS: Sixty-eight women met the inclusion criteria for the study. The positive predictive value of the CST was 45% for admission to the NICU, 13% for significant neonatal morbidity, 26% for need of neonatal intubation and 29% for umbilical artery pH < 7.10. The positive predictive values of abnormal ductus venosus waveform (ADVW) were 81.5%, 26%, 48% and 55%. Groups with ADVW showed significantly poorer neonatal outcome. No significant differences were observed when CST results were compared. Logistic regression analysis showed that both gestational age at delivery and ADVW significantly predict the occurrence of adverse perinatal outcome. CONCLUSION: In growth-restricted fetuses with hemodynamic redistribution and a non-reassuring NST, Doppler assessment of the ductus venosus correlates with adverse perinatal outcome. In this clinical situation there is no benefit of CST in terms of prediction.

Analysis of Variance↗
PubMed2003

Jugular vein and carotid artery blood flow in fetuses with increased nuchal translucency at 10-14 weeks' gestation.

OBJECTIVE: The aim of our study was to obtain measurements of the jugular vein and carotid artery pulsatility index (PI) at 10-14 weeks' gestation in chromosomally normal and abnormal fetuses with or without increased nuchal translucency (NT), in order to explore whether a relationship exists between increased NT and overperfusion of the head. METHODS: This was a prospective study involving 179 pregnant women at high risk for chromosomal anomalies or structural malformations who were referred for chorionic villus sampling or first-trimester ultrasound examination at 10-14 weeks' gestation, respectively. Color and pulsed Doppler ultrasound were used to obtain jugular vein and carotid artery blood flow velocity waveforms at the level of the mid-neck. All Doppler measurements were obtained by a single investigator. The PIs of the jugular vein and carotid artery were correlated with NT measurement and fetal karyotype. RESULTS: Doppler measurements of the jugular vein and carotid artery were successfully obtained in 90.5% of the fetuses. The fetal karyotype was abnormal in 13 cases, including three trisomies 21 and two trisomies 18, and normal in 149 cases. In the group with normal karyotype the NT was above the 95th percentile in 22 cases (15%). No correlation between the jugular vein or the carotid artery PI and the thickness of the NT was found. There were no significant differences when comparing the values of the jugular vein and carotid artery PI between the group with normal NT and the group with increased NT, or between the group with a normal karyotype and an abnormal karyotype. CONCLUSION: Our results suggest that NT is not related to blood flow impedance in either the carotid artery or the jugular vein. Overperfusion and venous congestion of the head do not appear to be a causative pathophysiological mechanism involved in increased NT.

Adult↗
PubMed2003

Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation.

OBJECTIVE: To examine the prevalence, distribution and spectrum of cardiac defects in chromosomally normal fetuses with increased nuchal translucency thickness. PATIENTS AND METHODS: During a 4-year period, targeted fetal echocardiography was used in 353 chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks' gestation. The cardiac scan was performed at 18-22 weeks. In the last 138 cases enrolled, an additional scan at 12-16 weeks was carried out. The follow-up included the findings at necropsy or in the pediatric examination. A complete follow-up was achieved in 97%. RESULTS: Cardiac defects were present in 32 (9.1%) cases, increasing from 5.3% in those with a nuchal translucency thickness of > or = 95th centile (3.9 mm) to 24% when thickness > or = 6 mm (p < 0.001). In 31 cases (97%), the cardiac defect was diagnosed antenatally; in 24 cases (77%) this diagnosis was confirmed later. In the remaining seven cases, the autopsy examination was not available. A wide range of cardiac defects was observed, with the most common being atrioventricular septal defect and tricuspid atresia. CONCLUSIONS: Euploid fetuses with increased nuchal translucency thickness have a significantly increased risk of cardiac defects. This is a marker of different types of heart anomalies and constitutes an additional indication for targeted fetal echocardiography. Most of the cardiac defects can be detected by fetal echocardiography.

Adolescent↗
PubMed2003

Twin-twin transfusion syndrome in a dizygotic monochorionic-diamniotic twin pregnancy.

We present a case of twin-twin transfusion syndrome with discordant gender. Monochorionicity was confirmed by surgical pathology. Cytogenetic analysis showed normal 46,XX and 46,XY karyotypes. Microsatellite analysis using reliable pericentromeric markers was consistent with dispermic fertilization of two separate ova. This suggests that monochorionicity, rather than zygosity, may be responsible for the development of placental vascular anastomoses.

Abortion, Spontaneous↗
PubMed2002

Early prenatal diagnosis of major cardiac anomalies in a high-risk population.

OBJECTIVE: To examine the accuracy of early fetal echocardiography performed in a high-risk population combining transvaginal and transabdominal routes. METHODS: A series of 330 high-risk pregnancies were screened by transvaginal and transabdominal scan at 12-17 weeks' gestation in a prospective multicentre trial in Spain between September 1999 and May 2001. A total of 334 fetal heart examinations were performed, including four twin pregnancies. Maternal age ranged from 17 to 46 years (mean 33 years with 36% of women over 34 years). The median gestational age at scan was 14.2 weeks (range 12-17 weeks). For each fetus, visualization of the four-chamber view, the origin of the great arteries, aortic and ductal arches and systemic venous return was attempted in a segmental approach. B-mode and colour/pulsed Doppler flow imaging were used in all cases. The duration of complete heart examination was less than 30 minutes. The examinations were performed by three experienced operators. Reliability was assessed by conventional transabdominal echocardiography at 20-22 weeks, by postnatal follow-up in the first three months of life, and/or by autopsy in cases of termination of pregnancy. RESULTS: The rate of successful visualization of the fetal heart was 94.6% (316/334). In 48 out of 334 (14.4%) fetuses the final diagnosis was abnormal. In 38 out of 48 (79.2%) cases with heart defects the diagnosis was suspected at early echocardiography. In the group with congenital heart defects, 27 cases had an abnormal karyotype (56.3%) and 31 cases showed extracardiac anomalies (64.6%). There were 10 false-negative cases at early scan. There were no false-positive diagnoses. CONCLUSIONS: This experience stresses the usefulness of early fetal echocardiography when performed by expert operators on fetuses specifically at risk for cardiac disease. The high rate of successful visualization of the fetal heart provides a reliable diagnosis of major cardiac defects at this early stage of pregnancy.

Adolescent↗