Objective-To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy. Material-Necropsies were performed on 815 fetuses-448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)-during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%). For all 129 fetuses, karyotyping and an ultrasound examination had been performed. Results-Congenital heart defects were present in 22% of induced abortions (99 cases), 9% of spontaneous abortions (20 cases), and 7% of stillbirths (10 cases). The heart malformations were classified into 13 categories. A fetus with more than one defect was included only in the category of the most serious defect. The malformations in order of frequency were: ventricular septal defect (VSD) (28%), atrioventricular septal defect (AVSD) (16%), hypoplastic left heart (HLH) (16%), double outlet right ventricle (DORV) (12%), coarctation of the aorta (CoA) (6%), transposition of the great arteries (TGA) (4%), aortic valve stenosis (AoVS) (4%), tetralogy of Fallot (TOF) (3%), truncus arteriosus communis (TAC) (3%), pulmonary valve stenosis/ pulmonary valve atresia (PaVS/PaVA) (3%), tricuspid atresia (TA) (3%), single ventricle (SV) (1.5%), and atrial septal defect (ASD) (0.5%). The most common congenital heart defects were VSD, AVSD, HLH, and DORV, which made up 72% of all the cases. In 11 cases the heart defect was isolated (no other cardiovascular or extracardiac malformations present), 85 cases (66%) were associated with additional cardiac malformations, 85 cases (66%) were associated with extracardiac malformations, and chromosome anomalies were detected in 43 cases (33%). Conclusions-Fetal congenital heart malformations are common. These defects are often associated with other cardiovascular and extracardiac malformations, as well as with chromosome anomalies. Complex heart defects such as AVSD, HLH, and DORV are frequent in fetuses, as they often lead to spontaneous abortion or stillbirth or, after prenatal diagnosis, to deliberate termination of pregnancy. (Heart 1999;82:34-39)

Objective Congenital heart defects (CHD),

In order to determine the frequency of associated malformations and chromosomal defects in patients with congenital diaphragmatic hernia (CDH) our experiences with CDH during the last 8 years (1985–1993) were reviewed. During the study period, 33 fetuses (prenatal group) with CDH were examined at our level III ultrasound department. In the same period 11 neonates (postnatal group) were admitted to our pediatric surgical unit after postnatal diagnosis of a CDH. Those cases had not been suspicious for CDH during prenatal level I scan. In 24 (72.7%) of the cases with CDH seen prenatally, at least one or more extradiaphragmatic malformations could be detected. Most of them affected the cardiovascular, skeletal, genitourinary and nervous system. Six (18.1%) fetuses had chromosomal abnormalities, especially trisomy 18. In contrast to these findings just 4 of the 11 babies (36.3%) seen postnatally had associated malformations and all of them had a normal chromosome set. Survival rate of fetuses with CDH and associated anomalies (7.1 %) was poor, in contrast to those with an isolated CDH (43.7%). Prenatal ultrasound investigations being suspect for CDH should encourage the clinician to make further diagnostical efforts. This includes detailed ultrasound examination and cytogenetic analysis. Associated malformations as well as chromosomal defects are often present in affected patients.

The echocardiographic findings and clinical courses in 19 fetuses with marked cardiomegaly [heart length, width, area, cardiothoracic ratio, heart/thoracic area (CTA) ratio > 2 SD] were reviewed. An abnormal heart was the reason for referral in 16 cases of 19 (84.2%). The mean gestational age was 31.5 weeks at detection. Intracardiac hemodynamics were studied using pulsed, color, and M-Mode color Doppler. Despite the heterogeneous etiology of marked cardiomegaly (5 Ebstein’s anomalies, 5 tricuspid valve dysplasias, 3 dilatative cardiomyopathies and 6 miscellaneous) a holosystolic tricuspid regurgitation with right atrial enlargement was found in 17 of the 19 cases (89.4%) as a common pathogenetic feature. A hydrops was found in 10 cases (52.6%). Besides 1 elective legal abortion, a high mortality rate of 83.3% was observed in the group followed up (6 intrauterine and 9 neonatal deaths). Among the cardiac measurements the CTA ratio seemed to correlate with fetal outcome, since all three survivors had the lowest values and all fetuses with CTA ratio > 0.6 showed a lung hypoplasia as a sequel of compression by cardiac enlargement. The presence or the development of hydrops, an obstruction of the right ventricular outflow tract, and the lung hypoplasia could be considered as signs of poor prognosis. A reliable differentiation between a patent pulmonary valve, pulmonary stenosis and pulmonary atresia in severe tricuspid regurgitation using modern Doppler means is difficult as seen in our studied group and in the literature. A cardiomegaly could be detected by nonexperienced examiners, but even if its presentation in fetal life could be considered as one of the main predictors of poor outcome, such cases have to be referred to centres experienced in fetal echocardiography.

We report on a fetus of 27 weeks of gestation whose clinical, radiological, and histopathological findings are compatible with the prenatal form of Caffey disease (cortical hyperostosis). Prenatal ultrasound examination showed polyhydramnios and markedly short and angulated long bones, which had led to the incorrect diagnosis of lethal osteogenesis imperfecta. We found 43 published descriptions on the antenatal onset of cortical hyperostosis symptomatic in utero or at birth. Two groups of prenatal cortical hyperostosis (PCH) can be distinguished: (1) severe (25 reports and the fetus presented here), with onset before 35 weeks of gestation and generally associated with polyhydramnios, lung disease, prematurity, and high lethality; (2) mild (18 reports), with onset after 35 weeks of gestation and without complications. Autosomal recessive inheritance has been suggested for the prenatal form of cortical hyperostosis. However, the available evidence suggests that both dominant and recessive inheritance is possible. Moreover, dominant inheritance seems to be more common in the mild prenatal form of cortical hyperostosis.

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A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber.