Biomedical subjects
Publications and source records attributed to R Bald.
In general the perinatal outcome of oligohydramnios is poor. The diverse etiology of the entity is difficult to pinpoint. Multiple antepartum amnioinfusions can be beneficial in selected cases not associated with malformations, abnormal karyotypes or premature rupture of the membranes. We treated 38 patients with 105 such instillations.
Cordocentesis under ultrasound guidance, or percutaneous umbilical blood sampling, was first reported in 1983 by Daffos et al. Since then the method has gained importance in prenatal diagnosis. In 1,011 cases at a women's clinic in Bonn, Federal Republic of Germany, 35% of the cordocentesis cases were done for blood group incompatibilities plus intravascular transfusion in most of the cases. In the remaining 65% the indications for cordocentesis were a rapid karyotype analysis, diagnosis of fetal infections and determination of fetal acid-base status in severe intrauterine growth retardation. Chorionic villus sampling (CVS) and amniocentesis were also performed to detect karyotype anomalies. Amniocentesis constituted 78.8% of the procedures and detected 50% of the karyotype abnormalities. Cordocentesis and CVS constituted 17.3% and 3.9%, respectively, of all the procedures and diagnosed 39% and 11%, respectively, of the abnormalities. Different forms of trisomy were the most common karyotype anomaly. Translocation was noted in 22 cases. Turner's, Klinefelter and triple X syndromes and triploidy were the next major forms.
Fetal hydrops is associated with two distinct pathophysiologic situations. The isoimmune hydrops fetalis is a well understood disorder, and as the result of medical advances and prophylactic therapy its frequency is diminishing. The nonimmune hydrops fetalis is a poorly understood disease with a bad prognosis. The two disorders can be differentiated with the indirect Coombs test. In both cases the ultrasound examination plays an important role in the diagnosis, prognosis and management. Examination of the fetal blood sample gives recently a possibility to approach the disease. In NIHF the examination of fetal blood sample would give a relatively quick and effective diagnosis but its value for the treatment is limited. Although with the present technology it is impossible to diagnose all cases of NIHF, the early recognizing, the careful and step by step investigation, the active perinatologic management mostly can show the etiology and can help the perinatal team at the treatment of the disease.
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A case of aortic atresia with insufficiency of mitral valve diagnosed prenatally at 33 weeks of gestation is presented. An accurate diagnosis of this fetal cardiovascular malformation was possible by application of Doppler colour flow mapping, which demonstrated (a) the absence of forward flow in the hypoplastic ascending aorta, (b) reverse flow of blood from the ductus arteriosus into the severely hypoplastic ascending aorta in the late systole, (c) pansystolic mitral valve regurgitation, and (d) absent flow across the foramen ovale as a result of premature closure of the foramen ovale.
The excretion of azapropazone in breast milk was studied in four lactating women over one dosing interval following repeated doses of 600 mg b.d. for at least three days. Plasma and milk samples were collected up to 12 hours after drug intake. An average of 0.8 mg azapropazone was calculated as being excreted in breast milk in the 12 hour period. The breast fed neonate would ingest 0.2 mg/kg during this period.
Colour-coded M-mode Doppler echocardiography is a simultaneous registration of the conventional M-mode echocardiogram and of the pulsed wave colour-coded Doppler echocardiogram with simultaneous analysis of several sample volumes along the ultrasound cursor with a high timely resolution, guided by the two-dimensional imaging. Within 9 months, 36 foetuses with arrhythmias were prospectively examined (24 foetuses with atrial premature beats, 9 foetuses with supraventricular tachycardia, and 3 foetuses with complete heart block). The classification of arrhythmia by the colour-coded M-mode Doppler echocardiography was always possible at first examination. The most important advantage of this method is the simultaneous registration of the information of conventional M-mode and Doppler echocardiography. Therefore, the intervals between atrial and ventricular contractions can also be analysed even when the angle of insonation to the foetal heart is unfavourable, since contractions cannot only be identified by wall movements but also by the flow velocities. Furthermore, the duration of regurgitation of atrioventricular valves can be exactly measured by colour-coded M-mode Doppler echocardiography. In foetal supraventricular tachycardia, it appears that severity of congestive heart failure is correlated with the duration of atrioventricular valve regurgitation up to a holosystolic insufficiency. Thus, it seems possible, that the duration of insufficiency of atrioventricular valves is a good parameter for evaluation of cardiac function and for modifying antiarrhythmic treatment in cases of supraventricular tachycardia.
Chromosome investigations were carried out in 588 fetuses with prenatally diagnosed growth retardation and/or congenital malformations. Out of these cases 116 (19.7%) revealed a chromosome disorder. Among the prenatally diagnosed malformations heart defects were detected in 102 fetuses (17.3%) and were therefore one of the most common abnormalities. Within this group of prenatally diagnosed heart defects 41 fetuses (40.2%) had a chromosome disorder, with trisomy 18 and 21 as the most common syndromes. The results of our study demonstrate that heart defects which can be recognized prenatally by ultrasound are caused in about 40% of the cases by a chromosome aberration and that they are therefore always an indication for fetal karyotyping.
Until recently, prenatal diagnosis of fetal cardiac malformations was restricted to the second and third trimesters. With the advent of high-frequency transvaginal probes, earlier detection of such malformations is possible. We present a case of nonimmune hydrops fetalis with complete atrioventricular canal defect, insufficiency of atrioventricular valves, and complete heart block at 11 weeks' gestation diagnosed by transvaginal two-dimensional and Doppler echocardiography.
Improving techniques in fetal echocardiography have important implications in the field of clinical genetics. 1) Fetal echocardiography in pregnancies with families with increased recurrence risks for congenital heart disease (CHD): In 473 pregnancies with increased recurrence risks for CHD second-trimester fetal echocardiography was performed. In 11 cases (2.3%) cardiac malformations were present that could be diagnosed in five cases prenatally (hypoplastic left heart, complete atrioventricular canal defect with hypoplastic left ventricle, preductal coarctation of aorta, tetralogy of Fallot, complete atrioventricular canal defect). In six cases the prenatal diagnosis could not be performed (total anomalous pulmonary venous connection [one case], secundum atrial septal defect [two cases], ventricular septal defect [three cases]). The recurrence risk in families with one previously affected child was 1.4% (5/364), and 17.6% (3/17) in families with two previously affected children. In two out of 44 cases with one affected parent a CHD could be diagnosed, in both cases one previous child was already affected. 2) Congenital heart defect as a common symptom in malformation syndromes: CHD is common as a symptom in malformation syndromes. The demonstration of a fetal CHD can lead to diagnosis of a complex malformation syndrome and it is integral in prenatal diagnosis in cases with increased recurrence risks for a complex malformation syndrome. The sonographic diagnosis of a CHD may signal associated chromosomal disorders. Between January 1986 and December 1988 in 433 cases with prenatally diagnosed congenital malformation and/or severe fetal growth retardation a prenatal chromosome analysis was performed. Within this group 77 fetuses demonstrated a CHD and 28 (36%) out of these revealed a chromosomal disorder. The genetic basis of CHD, the most common complex syndromes with CHD, and the principles of genetic counseling in families with CHD are summarized.
One hundred and fifty fetuses between 16 and 38 weeks of gestation were studied by fetal echocardiography using colour-coded two-dimensional Doppler echocardiography. Two-dimensional, M-mode, and Doppler spectral analyses were also performed. In 14 fetuses, structural and/or functional abnormalities were detected. Abnormalities were correctly ruled out in all the other fetuses. The advantages of two-dimensional Doppler echocardiography are (1) rapid screening for flow abnormalities in the fetal heart, and thus shortening of the Doppler examination time; (2) rapid diagnosis of valvular regurgitation, valvular stenosis, and abnormal shunting of blood across the interatrial and interventricular septa; and (3) facilitation of the diagnosis of complex congenital heart defects which in certain cases is possible only by using two-dimensional Doppler echocardiography.
Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.
The fetuses of 352 patients at between 16 and 38 weeks of gestation were studied by using two-dimensional Doppler echocardiography (2-DDE). In 32 fetuses, structural and/or functional abnormalities were detected. The advantages of 2-DDE are, in particular, rapid screening for flow abnormalities and, thus, shortening of the Doppler examination time. Further benefits include a rapid diagnosis of valvular regurgitation, valvular stenosis, and abnormal shunting of blood across the cardiac septa. The diagnosis of complex heart defects is facilitated by and, in certain cases, only possible at all using 2-DDE.
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Complete heart block was diagnosed prenatally in 21 fetuses. Associated structural cardiac defects were present in 18 fetuses, in particular complete atrioventricular canal with atrial isomerism (5 cases), and 'corrected' transposition of the great arteries (4 cases). Maternal systemic lupus erythematosus was proved in only one case. In 11 fetuses, intra-uterine congestive heart failure with the signs of non-immune hydrops fetalis occurred. In all 11 fetuses, the hydrops was associated with a cardiac defect, in particular complete atrioventricular canal with atrial isomerism in 5 cases. A review of the literature confirms that only the association of complete heart block and cardiac malformation can cause intra-uterine congestive heart failure, whereas in the case of fetal complete heart block without cardiac malformation or with prenatally hemodynamically insignificant cardiac malformation, congestive heart failure is rare. Only 30% of newborns with complete heart block have associated cardiac malformations. In our series, however, 86% of the fetuses with complete heart block had cardiac malformations. The most important reason for this percentage discrepancy is that almost all fetuses with associated severe cardiac defects, in particular atrioventricular canal defects, develop heart failure which frequently results in prenatal death. Thus, fetal deaths are not included in pediatric statistics. Nevertheless, fetuses with isolated complete heart block generally do not develop heart failure and in almost all of the cases are born alive.
By the application of all methods of fetal echocardiography the prenatal diagnosis and a prognostically correct assessment was reached in a severe case of Ebstein's anomaly of tricuspid valve associated with pulmonary atresia, severe tricuspid regurgitation, and a hypoplastic main pulmonary artery. It is demonstrated that only the application of two-dimensional color-coded Doppler-echocardiography followed by a spectral-Doppler-echocardiography can result in an accurate evaluation of hemodynamical alterations and thus in the prognostic assessment in the reported case.
In 402 cases with prenatally diagnosed nonimmune hydrops fetalis, cardiovascular diseases were present in 18%, chromosomal disorders in 11%, and hematologic disorders of the fetus in 10%. In the last 3 years, fetal blood sampling has become a very important part of the differential diagnosis of nonimmune hydrops (chromosomal, hematologic and metabolic disorders, intrauterine infection). Also, transabdominal placental biopsy has been used for rapid karyotyping. A detailed fetal echocardiogram is absolutely necessary in all cases of nonimmune hydrops, in particular spectral and color Doppler flow mapping. Thus, congenital heart diseases can be accurately diagnosed. Further, in other causes of hydrops regurgitation of atrioventricular valves may be present in advanced stage. New important methods of intrauterine therapy are in particular: intravascular blood substitution in anemia, and the intravascular application of antiarrhythmic drugs in tachyarrhythmia. The overall survival rate was 19.4% (78 of 402); 4.0% (6 of 149) before 24 weeks of gestation, and 28.5% (72 of 253) after this age of gestation. The majority of survivors were in the tachyarrhythmia, hematologic disorder, isolated ascites and hydro-/chylothorax groups (53 of 78 survivors, 68%). In the other groups, the survival rate was generally low.
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