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Biomedical subjects

A A Baschat

Publications and source records attributed to A A Baschat.

At least 55 records · Page 3Linked to original sources

Tuberous sclerosis with intracardiac rhabdomyoma in a fetus with trisomy 21: case report and review of literature.

A large cardiac rhabdomyoma protruding into the left ventricle was diagnosed in a fetus at 21+2 weeks of gestation by grey-scale echocardiography. Obstruction to left ventricular outflow was ruled out by colour and spectral Doppler echocardiography. No other abnormalities were noted and karyotyping by cordocentesis revealed trisomy 21 (47,XY,+21). Post-mortem examination after termination of pregnancy confirmed the prenatal diagnosis of cardiac rhabdomyoma and in addition revealed fetal tuberous sclerosis. Demonstration of cardiac rhabdomyoma by prenatal ultrasound should raise suspicion of the presence of fetal tuberous sclerosis. Despite the incidental association with aneuploidy, fetal karyotyping is suggested for optimal counselling of parents.

Adult↗

Neonatal nucleated red blood cell counts in growth-restricted fetuses: relationship to arterial and venous Doppler studies.

OBJECTIVE: Elevated nucleated red blood cell count in neonatal blood and Doppler-detected circulatory decompensation in fetuses with intrauterine growth restriction are associated with hypoxemia. We sought to determine the relationship between the nucleated red blood cell count at birth and the circulatory status of fetuses with intrauterine growth restriction. STUDY DESIGN: Eighty-four fetuses with elevated umbilical artery pulsatility index values >2 SD above the gestational age mean and a subsequent birth weight <10th percentile were examined serially. Umbilical and middle cerebral artery pulsatility index, inferior vena cava and ductus venosus peak velocity index, and flow pattern in the umbilical vein (umbilical vein constant vs pulsatile) were recorded. Fetuses were grouped as follows, on the basis of the last examination before delivery: 1, elevated umbilical artery pulsatility index only; 2, middle cerebral artery pulsatility index >2 SD below the gestational age mean in addition to abnormal umbilical artery pulsatility index; 3, either peak velocity index >2 SD above the gestational age mean in the inferior vena cava and ductus venosus or pulsatile flow in the umbilical vein, or both. Nucleated red blood cells per 100 white blood cells were ascertained in a peripheral blood sample obtained within 1 hour of delivery with daily follow-up samples until the nucleated red blood cell count was <5/100 white blood cells. RESULTS: Groups 2 (median 38.5, range 1-273) and 3 (median 145, range 2-3180) had higher nucleated red blood cell counts than group 1 (median 8.5, range 1-270) (P <.05 and P <.005, respectively). The persistence of the nucleated red blood cell count elevation was also longer in groups 3 (median 4 days, range 1-19 days) and 2 (median 2. 5 days, range 1-7 days) than in group 1 (median 1 day, range 1-8 days). Neonates in group 3 also had lower platelet count, hemoglobin value, hematocrit value, and white blood cell count. The umbilical cord artery bicarbonate level was the strongest independent determinant of the peak nucleated red blood cell count and persistence of nucleated red blood cell elevation (r (2) = 0.27, P <. 001 and r (2) = 0.47, P <.0001). CONCLUSION: Increasing abnormality of arterial and venous flows in fetuses with intrauterine growth restriction is associated with increasing nucleated red blood cell count at birth. Metabolic acidemia rather than altered PO (2 ) associated with this circulatory state appears to be the main determinant of the rise in nucleated red blood cells.

Adult↗

First-trimester fetal heart block: a marker for cardiac anomaly.

BACKGROUND: Fetal heart block in the second and third trimesters may be caused by transplacental passage of auto-antibodies or cardiac defects. Little is known about the etiology of first-trimester fetal heart block. MATERIALS AND METHODS: Fetal heart block was diagnosed in four patients (negative antibody serology) referred for first-trimester sonographic evaluation of increased fetal nuchal fold thickness with bradycardia. Two-dimensional echocardiography was complemented by color Doppler flow imaging of the fetal heart. Fetal arrhythmia was verified by M-mode, pulsed wave Doppler and/or color M-mode echocardiography. RESULTS: All fetuses had congenital heart disease, atrioventricular valve regurgitation, heart block and edema. Autopsy confirmed heterotaxy in three cases (left atrial isomerism with atrial septal defect; left isomerism with double-outlet right ventricle, great artery malposition and ventricular septal defect. The third case had dextrocardia with atrioventricular canal defect and the fourth case dextrocardia with great artery transposition. CONCLUSION: First-trimester fetal bradycardia may result from heart block of the type associated with complex congenital heart disease. Accelerated edema formation in this setting may be the basis of nuchal edema formation. First-trimester fetal echocardiography offers the potential for early diagnosis and intervention in these cases with poor prognosis.

Adult↗

Ante- and intrapartum diagnosis of vasa praevia in singleton pregnancies by colour coded Doppler sonography.

Vasa praevia is a rare complication of pregnancy associated with a high fetal morbidity and mortality. As planned caesarean section can circumvent fetal risks, early detection of vasa praevia is desirable. Antenatal diagnosis by ultrasound by visualisation of vasa praevia may be difficult by transvaginal sonography alone due to an unfavourable angle of insonation. Combination of transabdominal and transvaginal sonography is superior in imaging the placental type, location, insertion of the cord and vasa praevia. We present four cases of antepartum and one case of intrapartum diagnosis of vasa praevia in singleton pregnancies using transabdominal and transvaginal colour coded Doppler sonography. A bipartite placenta with normal cord insertion was found in three cases and with velamentous insertion of the cord in one case. One case had a partially membranous placenta with velamentous insertion of the cord. From the site of cord insertion fetal vessels were coursing over the internal cervical os and then continued in an amniotic sheet to the main placental mass on the opposite uterine wall.

Female↗

Prenatal diagnosis of ductus venosus agenesis: a report of two cases and review of the literature.

Anomalies of venous return due to absence of the ductus venosus have been described in the literature. This is a report of the prenatal diagnosis of two cases of isolated ductus venosus agenesis occurring at 20 and 37 weeks' gestation, confirmed postnatally by color-coded Doppler sonography. In both cases the hepatic veins assumed the function of the ductus venosus without compromising fetal hemodynamics or causing hydrops. In the first case, a healthy female infant was delivered at term. In the second case, a 46,XY,dup(8) (q21.1q22)[35]/47,idem, + r(8)[15] karyotype was diagnosed by amniocentesis. The male newborn showed facial anomalies, a bell-shaped thorax and increased intermamillary distance. There was muscular hypotonia, delayed psychomotor development and an inspiratory stridor leading to obstructive nocturnal dyspnea. On the basis of our observations in these two cases and previous reports from animal studies, we conclude that absence of the ductus venosus may be compatible with normal fetal development without relevant disturbance of circulation and oxygenation.

Abnormalities, Multiple↗

Examination of fetal coronary sinus blood flow by Doppler ultrasound.

The aim of this study was to demonstrate coronary sinus blood flow in the human fetus by color Doppler imaging and pulsed wave Doppler sonography and to determine the feasibility of using Doppler ultrasound for routine investigation. Visualization of the coronary sinus blood flow by color Doppler imaging was attempted in 84 fetuses with appropriate growth and normal cardiac anatomy, and in which right or left lateral four-chamber views could be obtained (median gestational age, 32 + 5 weeks). After successful identification, examination of the flow velocity waveform and measurement of peak blood flow velocities by pulsed wave Doppler were attempted. Detection of coronary sinus blood flow by color Doppler imaging was possible in 48 fetuses (57.1%) at a median gestational age of 30 + 3 weeks. Pulsed wave measurements were successful in only 11 fetuses (13.1%) (median gestational age, 34 + 2 weeks). The flow velocity waveform is triphasic with antegrade flow towards the right atrium during systole and diastole and reverse flow during atrial contraction. Peak blood flow velocities during diastole were higher (median, 0.38 m/s) than during systole (median, 0.18 m/s); median peak velocity during atrial contraction was -0.05 m/s. Measurement difficulties were due to small fetal size and interference caused by intra-atrial blood flow and/or atrioventricular valvular movement. Demonstration of coronary sinus blood flow by color Doppler imaging is possible in the human fetus. However, pulsed wave Doppler measurements are infrequently obtained, making this study for routine assessment of myocardial blood flow unfeasible.

Blood Flow Velocity↗

Fetal coronary and cerebral blood flow in acute fetomaternal hemorrhage.

A fetal heart rate tracing with absent variation and a sinusoidal pattern led to the diagnosis of acute fetomaternal hemorrhage at 29 + 2 weeks' gestation. The middle cerebral artery had increased peak blood flow velocity with reversed end-diastolic flow. Fetal coronary arteries visualized by color-coded and pulsed wave Doppler sonography showed slight decrease of time-averaged maximum velocities after oxygen administration, while cerebral flows remained unchanged. After administration of 50 ml blood (pre-transfusion hematocrit < 11%) the middle cerebral artery flow normalized and coronary artery velocities decreased further until coronary blood flow could no longer be visualized within 30 min of the transfusion (post-transfusion hematocrit 27%). Evidence of successful fetal resuscitation also included normalization of the fetal heart rate tracing and resumption of fetal activity (biophysical profile score 8/10). This was also observed after a second transfusion of 38 ml blood. Deterioration from repeated fetomaternal hemorrhage led to delivery of a severely anemic neonate (cord hematocrit 7%) by Cesarean section. Postnatally, a single seizure, moderate severity respiratory distress syndrome and grade III intraventricular hemorrhage were noted. Increased peak blood flow velocity with reversed end-diastolic flow may be observed in the middle cerebral artery of fetuses with acute anemia. Correction of this phenomenon with transfusion suggests that hypovolemia and low blood viscosity are major contributing factors. Furthermore, decreasing coronary artery blood flow velocities with supplemental oxygen and blood replacement confirm functional autoregulation of the fetal coronary circulation. Observation of these acute flow changes during fetal surveillance warrants investigation for a potentially serious underlying condition.

Acute Disease↗

Prenatal diagnosis of a transient myeloproliferative disorder in trisomy 21.

We report the prenatal diagnosis of a transient myeloproliferative disorder suggestive of leukaemia in a fetus with hepatosplenomegaly, hydrops and 47, XY, +21 karyotype. The initial fetal white blood cell count at 26 + 5 weeks' gestation was 190/nl with 70 per cent blast cells. Immunophenotyping of the large blasts revealed surface markers suggestive of an early stem cell differentiation arrest resulting in undifferentiated polyclonal myelopoiesis. The fetal heart tracing showed minimal beat-to-beat variability in the presence of high leukocyte counts. Serial fetal blood sampling showed decreasing blast cells in the peripheral blood and normalization of white blood cell counts. Although there was increasing hydrops, this period was marked by improvement of the fetal heart rate pattern. Finally the fetus developed pancytopenia with increasing hydrops, AV-valvular insufficiency and venous Doppler studies indicative of cardiac decompensation prior to intra-uterine death at 31 + 5 weeks' gestation. Post-mortem examination revealed marked liver and splenic necrosis without evidence of residual leukaemic infiltration in any organ. Fetal hydrops and hepatosplenomegaly may indicate an underlying haematopoietic disorder warranting further investigation. Furthermore, this case indicates that transient abnormal myelopoesis may result in a fulminant clinical picture much like true leukaemia. This may be due to increased vulnerability of the fetus or represent a disease mechanism unique to fetuses with chromosomal abnormalities.

Adult↗

Coronary blood flow in fetuses with intrauterine growth restriction.

The coronary circulation is the major determinant of myocardial oxygen balance which in turn is necessary for adequate cardiac function under a variety of conditions. Experiments in the fetal lamb suggest short-term functional coronary autoregulation in response to increase in afterload and acute hypoxemia. Long-term, acute-on-chronic hypoxemia is associated with a marked increase of maximal myocardial flow reserve suggesting coronary vascular angio-neogenesis during the period of chronic hypoxemia. In the human fetus, flow velocity waveforms from the coronary arteries may be obtained by color-coded and pulsed wave Doppler sonography in normally developed fetuses from 31 weeks of gestation onwards under favorable imaging conditions. Coronary blood flow may also be visualized in selected fetuses with intrauterine growth restriction, absent or reversed end-diastolic flow in the umbilical artery, cephalization of blood flow and abnormal flow patterns in the precordial veins and the umbilical vein. In these fetuses visualization of coronary blood flow may be possible as early as 26 weeks gestation and is consistently associated with a significant increase in the peak velocity index for veins in the ductus venosus. In this circulatory state, visualization of coronary blood flow is suddenly very easy. This "visualization threshold" may be a sign of maximal increase in coronary blood flow in an attempt to "spare" the fetal heart of hypoxemia. Although highly operator dependent, demonstration of coronary blood flow in intrauterine growth restriction identifies fetuses at high risk for intrauterine fetal death and postpartum circulatory failure.

Animals↗

Demonstration of fetal coronary blood flow by Doppler ultrasound in relation to arterial and venous flow velocity waveforms and perinatal outcome--the 'heart-sparing effect'.

This longitudinal observational study evaluates the stage at which coronary flow can be visualized by color-coded and pulsed wave Doppler sonography in fetuses with normal cardiac anatomy. Fetal biometry, echocardiography and Doppler examination of the umbilical and middle cerebral arteries, ductus venosus, inferior vena cava and umbilical vein were performed in 109 cases. Fetuses were divided into five groups based on the Doppler examination of the umbilical artery, birth weight and the ability to visualize coronary blood flow. Coronary blood flow was identified in six of 55 fetuses with normal growth who had normal Doppler studies and perinatal outcome. In these, visualization of coronary blood flow was possible after 31 weeks' gestation at a median gestational age of 37 weeks. Coronary blood flow was also visualized in ten of 54 fetuses with severe intrauterine growth retardation and highly pathological flow velocity waveforms in all vessels soon after a significant increase of venous indices in the inferior vena cava and ductus venosus. In these cases, coronary blood flow was identified at a significantly earlier gestational age (median 27 weeks). These fetuses had a poor perinatal outcome (average birth weight less than 3rd centile, mortality rate 50%, significantly lower umbilical artery blood pH and Apgar scores after 1 and 5 min). Intrauterine fetal death occurred in five fetuses after a median of 3.5 days following visualization of coronary blood flow. Median coronary peak blood flow velocities in the right coronary artery were higher in intrauterine growth-retarded than appropriate-for-gestational-age fetuses.

Blood Flow Velocity↗

Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first- and early second-trimester echocardiography.

Chromosomal analyses were performed in 36 fetuses with cardiac anomalies diagnosed by echocardiography at 11 + 1 to 15 + 6 weeks of gestation. Karyotyping was successful in 35 cases and 17 (48.6%) had anomalies, including five with Turner's syndrome, seven with trisomy 18, four with trisomy 21 and one with triploidy. The commonest cardiac anomaly observed in trisomy 21 was a complete atrioventricular canal; in trisomy 18 was ventricular septal defect; in Turner's syndrome was a hypoplastic aortic arch in combination with hypoplasia of the left ventricle and left ventricular outflow tract; and in the case of triploidy was a ventricular septal defect. These findings confirm the opinion that, in fetuses with chromosomal anomalies, there is a high incidence of cardiac defects. Furthermore, there is a distinct pattern of cardiac defects associated with each chromosomal anomaly.

Amniocentesis↗

Demonstration of fetal coronary blood flow by color-coded and pulsed wave Doppler sonography: a possible indicator of severe compromise and impending demise in intrauterine growth retardation.

We report four cases of uteroplacental insufficiency with severe intrauterine growth retardation in which coronary blood flow was demonstrated by means of color-coded and pulsed wave Doppler sonography. Intrauterine fetal compromise was indicated by pathological uterine and umbilical flow indices and decreased impedance in the cerebral vasculature. Later, this was followed by normalization of middle cerebral artery Doppler indices in one case. The latter change was associated with abnormal atrial systolic reverse blood flow initially in the inferior vena cava, then in the ductus venosus and finally resulting in pulsatile flow in the umbilical vein. In the late stage of fetal deterioration pulsatile flow in the umbilical vein was replaced by a biphasic flow pattern. In two cases coronary flow was visualized preceding intrauterine fetal death. In the two other cases a severely growth retarded newborn was delivered by Cesarean section. The postnatal course was complicated by a prolonged period of circulatory insufficiency and renal failure and in one case by a persistent ductus arteriosus. Visualization of fetal coronary blood flow in severe uteroplacental insufficiency could be a preterminal event when urgent delivery may be warranted.

Adult↗

Fetal intracerebral hemorrhage in the second trimester: diagnosis by sonography and magnetic resonance imaging.

Germinal matrix intraventricular hemorrhage has rarely been observed in the fetus. In most cases the etiology is clear. We report one case of prenatal diagnosis of a periventricular hemorrhage of uncertain etiology in a fetus of 22 weeks' gestation. For confirmation of the ultrasound diagnosis, antenatal magnetic imaging was performed. A male child was delivered in good condition at 37 weeks by Cesarean section. Postnatal ultrasound examination showed a cystic lesion in the right frontal lobe (10 x 10 mm) connecting with the right lateral ventricle. The development of the child at 18 months of age has been normal without any neurological impairment.

Adult↗

True knot of the umbilical cord: transient constrictive effect to umbilical venous blood flow demonstrated by Doppler sonography.

True knot of the umbilical cord is a rare occurrence, which is difficult to diagnose antenatally, even with the use of ultrasound. Constriction of a true knot of the umbilical cord may lead to obstruction of the fetal circulation and subsequent intrauterine death. We present a singleton pregnancy, in which the antenatal diagnosis of a true knot of the umbilical cord with entanglement of the cord around the fetal neck and body was made at 23 + 1 weeks' gestation. With the use of color-coded Doppler followed by pulsed wave Doppler spectral analysis, a stenotic effect on the umbilical venous blood flow, with normal arterial blood flow, was demonstrated for the first time. Marked acceleration of umbilical venous blood flow velocities from 15 cm/s pre-stenotically to 100 cm/s post-stenotically was demonstrated. This presented as an aliasing phenomenon and a mosaic pattern on color flow imaging in the variance mode. This phenomenon was only transient and could not be demonstrated again at follow-up examinations. A healthy newborn was delivered by Cesarean section at 33 + 1 weeks' gestation. The presence of a single knot was confirmed at delivery.

Adult↗

Triphasic umbilical venous blood flow with prolonged survival in severe intrauterine growth retardation: a case report.

We report a case of a singleton pregnancy with severe intrauterine growth retardation diagnosed at 24 + 0 weeks' gestation. Pulsed wave Doppler sonography revealed unilateral elevation of the pulsatility index with a diastolic notch in one uterine artery in association with reversed end-diastolic flow in the umbilical artery. From 24 + 3 weeks onwards there were pathological indices in the descending aorta, inferior vena cava and ductus venosus, with biphasic pulsatile flow in the umbilical vein, while indices in the middle cerebral artery were normal. Coronary blood flow was demonstrated in both coronary arteries with the use of color-coded and pulsed wave Doppler sonography. The clinical course was marked by minimal growth and persistence of pathological venous indices. At 29 + 3 weeks' gestation the venous flow pattern in the umbilical vein was noted to be triphasic pulsatile. At this time there was cardiac dilatation with tricuspid and mitral insufficiency. The parents did not want active management and intrauterine fetal death was diagnosed at 30 + 4 weeks' gestation. This case illustrates the fact that prolonged intrauterine survival, despite highly pathological Doppler indices in the venous and arterial circulation, is possible, indicating the extreme adaptability of some fetuses with early onset intrauterine growth retardation.

Adult↗

Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection.

Intracytoplasmic sperm injection (ICSI) is increasingly becoming the treatment of choice for severe male subfertility. Cytogenetic evaluation of men with andrological subfertility reveals an increased incidence of chromosomal abnormalities when compared with the normal population. We performed chromosomal analysis on the male partners of 32 couples referred for andrological subfertility. In two of these men, constitutional chromosomal translocations were diagnosed prior to ICSI [(45,XY,t(21;22)(p11;q11) and 46,XY,t(22;Y)(p11;q12)]. Since ICSI bypasses many potential barriers of fertilization, successful pregnancy can be achieved despite the presence of severely impaired spermatozoa in a population at high risk for chromosomal aberrations. It is well known that the presence of a chromosomal aberration plays a significant role in partial or complete spermatogenic arrest. ICSI does not seem to increase the risk of fetal chromosomal abnormalities when a spermatozoon from a chromosomally normal male is used. To exclude a higher risk for spontaneous abortion and fetal chromosomal abnormalities, we advocate cytogenetic screening of males with severe male subfertility who opt for ICSI.

Adult↗

Mini-swim-up: a new technique of sperm preparation for intracytoplasmic sperm injection.

PURPOSE: The male factor is nowadays one of the major problems in the treatment of infertility. New methods of assisted fertilization such as the intracytoplasmic sperm injection (ICSI) show better fertilization and pregnancy rates than classical IVF. METHOD: In this study, we present a new technique of sperm preparation: the "mini-swim-up." CONCLUSION: This technique, used in conjunction with the ICSI procedure, improves pregnancy and fertility rates in cases of severe oligoasthenoteratozoospermia.

Cell Separation↗