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We present the first reported case of prenatally diagnosed dup(22q) syndrome in a 20-year-old woman referred for genetic counseling because of a low maternal serum alpha-fetoprotein value. An ultrasound study at 22 weeks demonstrated oligohydramnios, intrauterine growth retardation, multiple facial malformations, and a cardiac defect. Fetal karyotype was 46, XYdup(22)(pter----q13:: q12----qter) by amniocentesis. Necropsy following pregnancy termination confirmed all prenatally delineated anomalies. Comparison is made with the complete and partial proximal dup(22q) syndromes. We emphasize the correlation between aneuploidy and the presence of low maternal serum alpha-fetoprotein, oligohydramnios, and midgestational intrauterine growth retardation.

The outcomes of 129 pregnancies in which the fetus was found to have a structural cardiac abnormality are reviewed. Over a 30-month period from January 1985 to June 1987, 1924 patients were referred to the British Heart Foundation Research Centre for Perinatal Cardiology at Guy's Hospital for fetal cardiac scanning. A total of 129 structural cardiac abnormalities was diagnosed; 53% of these patients were referred because of an abnormal 'four-chamber view' on ultrasound at the referring hospital; 47 of the pregnancies (69% of the 68 patients referred before 28 weeks) were terminated, and in the remaining 82 pregnancies outcome was poor with only 20 infants (16%) surviving longer than 11 months. The prenatal diagnosis was fully or partly correct in 96% of the 111 cases where it was possible to verify the diagnosis by post-mortem or postnatal diagnosis. In the 82 pregnancies not terminated, 13 of the 22 cases given a moderate or good prognosis survived more than 11 months (59% survival), but only seven of the 60 (12% survival) given a fatal, poor or uncertain prognosis. The benefits of a multidisciplinary approach are discussed.

Thirty fetuses with cardiac arrhythmias were referred for ultrasonography. This included cross sectional and M mode echocardiography and pulsed Doppler analysis of the fetal heart. Three types of arrhythmias were observed: ectopic beats, tachyarrhythmias, and bradycardia. Ectopic beats were associated with cardiac structural abnormalities in two cases, resulting in fetal death in one. Tachycardia was not associated with structural defect, but death from cardiac failure occurred in one patient. Transplacental treatment for tachyarrhythmia was not successful in our experience. In the group with bradycardia four cases had congenital cardiac abnormalities and the mortality rate was 50%. When a fetal cardiac arrhythmia has been established careful structural and rhythm analysis is of vital importance in facilitating prognosis, planning of time and mode of delivery, and monitoring of transplacental treatment where indicated.

Improvements in the resolution of real-time scanners have facilitated examination of the fetal heart and the performance of fetal echocardiograms. The techniques for systematic examination have rarely been described in detail. Six echocardiographic views, described in this report, allow complete examination of the four cardiac chambers, as well as the valvular structures. Interatrial and interventricular septa may be visualized, as well as the great vessels.

Fetal echocardiography has been a useful technique for demonstrating the anatomy of the developing human heart. M-mode echocardiography may be used to provide rhythm diagnosis in the absence of high-fidelity transabdominal fetal electrocardiograms. The information so generated may be applied to plan the management of pregnancy and delivery in a population at "high risk" for structural or functional heart disease and may provide the impetus for developing in utero treatment programs. For this reason, a high degree of sensitivity and specificity must be asked of the technique and of the personnel performing the examination. "Major" malformations which impart marked hemodynamic and structural alterations on the fetal heart may be reliably diagnosed. Diseases which must be identified on the basis of direct recognition of subtle abnormalities of structure, with little impact on fetal flow patterns (e.g. mild semilunar valve stenosis of perimembranous ventricular septal defect) have been more problematic. Before effective screening and treatment programs for the fetal heart can be developed, a cooperative effort between cardiologists and perinatologists is essential in order to gain facility with imaging as well as familiarity with the natural history of these conditions.

Between January 1982 and January 1988, 2,060 pregnant patients were scanned for congenital heart defects (CHD). In 76.5% of these patients, there was an increased risk of CHDs in their offspring. In this group there were 27 CHDs, 17 of which were correctly diagnosed prenatally. In the remaining 23.5% of the patients, the indication for cardiac studies was fetal pathology in the present pregnancy (fetal cardiac arrhythmia, polyhydramnios, severe intrauterine growth retardation, fetal ascites and suspected structural anomalies). In this group there were 82 CHDs, 79 of which were correctly diagnosed prenatally. The incidence of abnormal karyotype was 35%. When a CHD is diagnosed, a realistic prognosis can be given and appropriate obstetric measures taken according to the degree of disease. In cases with a good prognosis careful follow-up may be offered resulting in the delivery of an infant in optimal condition. Reassurance can be given to patients when abnormalities are excluded.

A case is presented of the antenatal diagnosis of a congenital cardiac abnormality in the fetus of a narcotic dependent mother, diagnosed by two-dimensional echocardiography. Infants born to narcotic dependent mothers require intensive management for their withdrawal symptoms, which may include respiratory and feeding difficulties. Possible cardiac abnormalities may not be considered as a cause for these symptoms until more overt signs appear. The clinical course of infants with coarctation of the aorta, which occurs in 1/1600 live births, is related to the type and degree of coarctation and to the presence, or absence, of other cardiac lesions. Antenatal knowledge of a cardiac malformation should allow the planning of suitable modes of delivery and prompt treatment even before the onset of obvious clinical signs.

Pulsed Doppler echocardiography (PDE) has proven value in the examination of the infant or child with known or suspected congenital heart disease. In order to assess how PDE might be useful in the evaluation of the infant in utero, we reviewed our experience with this technique used in combination with both cross-sectional and M-mode echocardiography. Where previous examinations had suggested some abnormality or where there was a risk factor for congenital heart disease, we performed PDE examinations on the cardiovascular system of 36 infants in utero ranging in gestational age from 20-39 weeks (mean 32 weeks). PDE of the fetal heart was found to be valuable in three areas: (1) quantitation of hemodynamics, (2) characterization of cardiac rhythm, and (3) identification of certain congenital cardiovascular structural anomalies.

2 human embryos of stages XV and XVII are studied, in which the persistence of the left vitelline vein opening into the venous sinus (sinus venosi cordis) is described.

The condition is extremely rare, since acardia is only found in 1% of monozygotic twin pregnancies. A case was discovered and observed using ultrasound and was then studied anatomically and pathologically. The histopathology and the physiopathology of the malformation is described. The aetiology that has been most usually accepted is that there is an anastomosis between the two umbilical cords of the two "twins" and that this leads to an inversion of the direction of the circulation in the affected fetus. The failure of the myocardium to develop would follow this vascular abnormality because of failure of the allantoid vessels to fuse. The interest in this kind of observation lies in the possibility of making the diagnosis very early in pregnancy using ultrasound, and of following the evolution and the regression of the acardiac fetus throughout the pregnancy, and with the possibility of comparing the views obtained by ultrasound with the anatomo-pathological features that can be diagnosed after birth.

A twin pregnancy in which a single fetal death was diagnosed in the first trimester is described. Continued growth of the nonviable twin suggested the occurrence of the twin reversed arterial perfusion syndrome.

In a fetus, examined initially at 22 weeks gestation, we identified the echocardiographic features of a dilated, hypertrophied and poorly contracting left ventricle. The presumptive diagnosis was critical aortic stenosis. Subsequent scans at 32 weeks and at term showed that the left ventricle had not grown since the first study such that the left ventricle had developed the appearance of a hypoplastic and densely echogenic chamber. Thus, in some forms of the hypoplastic left heart syndrome, the left ventricle can be of normal size or even dilated in early pregnancy. This may mean that the more subtle sign of poor left ventricular contraction could be overlooked in a routine four-chamber view obstetric scan.

Present combined two-dimensional real-time and M-mode echocardiograph systems allow detailed analysis of fetal cardiac structure and function. Standard scanning planes for systematic investigation of various cardiac structures are described. There is a curvilinear increase in left ventricular volume (Qlv), stroke volume (Qlvs), and output Q'lv) during the last trimester of pregnancy with a mean Q'lv value at term of 126 +/- 11 ml/kg/min. Scanning for cardiac defects should preferably be done between 18 and 24 weeks of gestation. In a total of 444 patients referred to our ultrasound unit for ultrasonic analysis of fetal cardiac structure, a total of 13 cardiac defects were diagnosed. The incidence of structural cardiac defects present among those with fetal dysrhythmia was 15%.

Two cases of hypoplastic right ventricle were identified using fetal M-mode echocardiography. Follow-up studies and autopsies confirmed these findings. Both lesions were detected in women without antenatal risk factors. The indication for M-mode examination was an abnormal four-chambered view of the fetal heart obtained during ultrasound examination for common obstetric indications.

Non invasive exploration of the fetal heart has been greatly facilitated by utilisation of high resolution echography using pulsed Doppler combined with B-scan. Investigation of the fetal heart in human medicine opens three important fields of interest. Better knowledge of fetal hemodynamics. Measurement of fetal heart function. Recognition of congenital heart disease. Acquisition of some fundamental knowledge is required for an ultrasonic approach to fetal echocardiography. Embryogenetic data lead to an understanding of the periods of vulnerability for each cardiac segment, whereas an understanding of physiology of the fetal circulation helps to explain the consequences of fetal congenital heart diseases and the methods used to evaluate fetal cardiac function. One section is devoted to the etiology of congenital heart disease. The most important cardiopathies encountered in cases of chromosomal anomalies and genetic disease as well as those due to environmental causes are presented so that the echographist may relate the examination to the clinical picture. In most instances the diagnosis of congenital heart disease is made by routine morphologic scanning of the fetal heart. Indications are given for the best orientation of the scans. All echographists should have precise knowledge of the echographic semeiology of the normal heart. When a cardiopathy or an anomaly of cardiac rhythm are recognized or suspected, the examination should be repeated with help of a cardiopediatrician so as to make an exact diagnosis and take the right decision. Study of fetal heart function is the most recent field for progress and covers in addition to the evaluation of congenital heart disease the development of new parameters allowing recognition of fetal jeopardy. Pulsed Doppler has already allowed the acquisition of interesting facts and certainly is one of the most exciting new inroads for progress in the field of fetal cardiology.

A significant number of fetuses with the Down syndrome are spontaneously lost before birth; however, very few such fetuses have been described. In the present study, 13 fetuses of 127--180 mm in crown-rump length were examined following amniocentesis diagnosis of trisomy 21 and therapeutic abortion. Four features, i.e., simian crease, clinodactyly, septal heart defects, and decreased size, were found to be relatively common in trisomy 21 fetuses as compared to controls. Other features were found to be less useful in identification. We conclude that the presence of two of the four features noted above is suggestive of trisomy 21 in the fetus.

Forty-eight pregnancies, five of them multiple, were referred for fetal cardiac assessment following the detection of non-immune hydrops fetalis; there were 52 hydropic fetuses in total. A cardiovascular aetiology was found in 21 of these 52 (40%); structural heart disease was present in 13, tachyarrhythmia in the remaining eight. The accurate delineation of these causes was possible using fetal echocardiography, and enabled rational management to be instituted. This included termination of pregnancy, pharmacological control of arrhythmias and appropriate timing of delivery.

The herbicide nitrofen was administered to pregnant Fischer-344 and Sprague-Dawley rats on Days 10-13 of gestation (po, 20 or 40 mg/kg daily) and its effects on cardiac structure and function were investigated in the offspring. In the 21-day fetuses, nitrofen did not influence intrauterine growth or basal heart rate. In contrast, the herbicide produced a marked depression of heart rate and abnormal electrocardiographic (ECG) profiles in the newborn rats, in conjunction with labored respiratory movements and a profound increase in postnatal mortality. A few animals displayed cardiac ventricular septal defects and diaphragmatic hernias but these malformations did not appear to be associated with the ECG changes. The chronotropic deficiencies seen in the nitrofen-treated pups were reversible by acute hyperoxia (40% oxygen). These results suggest that the teratogenic effects of nitrofen on cardiac physiology and on postnatal mortality cannot be accounted for solely by specific gross anatomical damages to the rat heart and diaphragm; rather, other more subtle morphological and physiological factors which contribute to improper systemic delivery and cellular utilization of oxygen may be involved.

(F.P.N.I.A.) was related in the past either to allo immunizations or to syphilis. Its present frequency remains important. It is estimated to be 1 p. 2000 or 1 p. 3000 births. The main etiologies are: cardiopathies with heart rate troubles, hematologic diseases (major form of thalassemia), twins pregnancies; but the list of the causes is very long. An effort should be done in order to track down the malformative statuses by the use of ultrasonography and amniocentesis for the fetal caryotype research. The neonatal prognosis is very dark, except in the curable cardiac causes. The therapeutical termination of the pregnancy, may be proposed before 28 weeks, in the serious causes. Beyond that it's often expectation, the attempt of a medical treatment, or if the malformation is not compatible with life, an attempt to induce delivery provided that there is no risk for the mother in doing that. In the case of a curable cause the childbirth should take place near a well equipped neonatology department, with a neonatal intensive care unit and surgical possibilities. The genetic counselling is indispensable at any moment: either during the diagnostic time period or at the childbirth in order to eliminate the accidental causes, the recurrent ones having an incidence upon the future obstetrical condition of the woman in case.

In spite of the overall improvement in the management of diabetic pregnancies, congenital anomalies among infants of diabetic mothers still remain two to three times higher than in the nondiabetic population. Approximately 40 per cent of all perinatal deaths among diabetic offspring are due to congenital malformations. This article reviews the subject and discusses current views on pathogenesis, based on human and experimental work, describes methods available for prenatal diagnosis, and suggests an approach to the possible prevention of these malformations.

With the widespread use of diagnostic ultrasound to evaluate the human fetus, it is now possible to diagnose a number of anomalies of varying organ systems. Although most anomalies of the central nervous, gastrointestinal, genitourinary, and skeletal systems are recognizable at birth, serious ones involving the cardiovascular system are often silent until the neonate demonstrates signs of cardiovascular compromise. Because an ever increasing number of fetuses are routinely scanned during pregnancy, it becomes imperative to incorporate a simple, logical approach to screen for cardiovascular disease during each fetal examination. The approach outlined in this paper would suggest that one method is the routine examination of the four-chamber view. Although there are a number of fetal and maternal risk factors which predispose to congenital heart disease, we have diagnosed a number of anomalies simply on the basis of the "screening" four-chamber examination in the "low-risk" fetus. For this reason, an attempt to examine the four-chamber view of the fetal heart should be done during each routine fetal examination. If an abnormality is noted, then a Level II, or consultative echocardiographic examination should be carried out. If a fetus at risk for congenital heart disease is being examined, a complete examination of the cardiovascular system (Levels I and II) should be performed. If the above approaches are integrated into obstetrical scanning, in the not too distant future it will be commonplace to diagnose cardiovascular anomalies prior to birth and thus provide the best care during the transition from the intrauterine to the extrauterine environment for the potentially cardiovascularly compromised neonate. The experience gained in our laboratory during the past 5 years strongly suggests that what is "today's research will become tomorrow's clinical tool."