Congenital heart disease in a cohort of 19,502 births with long-term follow-up

Hoffman, Julien I.E.; Christianson, Roberta E.

doi:10.1016/0002-9149(78)90635-5

Cited by 489 publications

(200 citation statements)

References 20 publications

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“…Of these cases, 30% are associated with other fetal abnormalities, and CHDs account for more than 50% of congenital anomaly-caused deaths in childhood. 10 Even though there have been many recent technological advances in our ultrasound machinery, the diagnosis of CHDs remains a major challenge. Detection rates reported in the second trimester ranged from 0% to 18% in the Routine Antenatal Diagnostic Imaging With Ultrasound trial.…”

Section: Discussionmentioning

confidence: 99%

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

Abu‐Rustum

Daou

Abu-Rustum

2010

Journal of Ultrasound in Medicine

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Objective. The purpose of this series was to determine the sensitivity of ultrasonography in early gestation (UEG) using nuchal translucency (NT) and the 4-chamber view (4CV) in the early diagnosis of congenital heart defects (CHDs). Methods. This was a retrospective chart review of all patients presenting for UEG between 2002 and 2009. At our center, a survey of fetal anatomy is performed at the time of the NT assessment at 11 weeks to 13 weeks 6 days. A second-trimester scan (STS) is done at 20 to 23 weeks and a third-trimester scan at 32 to 35 weeks. Suspected cases of CHDs were evaluated by a pediatric cardiologist. All neonates were examined at birth by a pediatrician, and when clinically indicated, fetal echocardiography was performed. Results. A total of 1370 fetuses were scanned. Congenital heart defects were identified in 8 (0.6%). Nuchal translucency was above the 95th percentile for gestational age (GA) in 6 of 8, and the 4CV was abnormal in 6 of 8. Ultrasonography in early gestation detected 75% fetuses with CHDs, and 25% were detected by an STS. Conclusions. Our study emphasizes the importance of UEG in the detection of CHDs. In this small unselected lowrisk population, UEG detected 75% of CHDs. Nuchal translucency was above the 95th percentile for GA, the 4CV was abnormal, or both in all 8 cases with CHDs. Key words: congenital heart defects; first-trimester scan; 4-chamber view; nuchal translucency; ultrasonography in early gestation. irst-trimester screening, using nuchal translucency (NT), tricuspid regurgitation, and ductus venosus flow, has been shown to be associated with early detection of congenital heart defects (CHDs). 1,2 This, coupled with the improvement in the resolution of today's ultrasound machines, is leading to the advocacy of incorporating routine cardiac evaluation at the time of the first-trimester scan (FTS). [3][4][5][6][7] The value of prenatal detection of CHDs has been shown to improve the outcome of these neonates when they are delivered at tertiary care centers equipped for handling them. 8,9 In addition, first-and early second-trimester detection provides ample time for a full workup: karyotype as well as assessment by pediatric cardiology. If termination of pregnancy were an option, then the earlier the diagnosis, the less the risks to the mother because the risks increase with advancing gestation, bearing in mind the limitations on termination beyond a certain gestational age (GA) in various parts of the world. This is further intensified by the emotional and psychological

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Section: Discussionmentioning

confidence: 99%

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

Abu‐Rustum

Daou

Abu-Rustum

2010

Journal of Ultrasound in Medicine

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“…To date, there have been approximately 70 reported cases of prenatally-diagnosed PKS, of which only 7 cases had cardiac defects [3,4,7,[16][17][18][19]. All the cases with cardiac defects, including the present case, are detailed in Table 1.…”

Section: Discussionmentioning

confidence: 85%

Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

et al. 2009

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Pallister-Killian syndrome (PKS), which is also referred to as tetrasomy 12p, was first described by Pallister [1], and later by . This rare chromosomal anomaly is characterized by tissue-specific mosaicism for a supernumerary isochromosome for the short arm of Pallister-Killian syndrome (PKS) is a rare disorder characterized cytogenetically by tetrasomy 12p for isochromosome of the short arm of chromosome 12. PKS is diagnosed by prenatal genetic analysis through chorionic villous sampling, genetic amniocentesis, and cordocentesis, or by chromosomal analysis of skin fibroblasts, but is not usually detected by chromosomal analysis of peripheral blood cells. Herein, we report a case of a gravida at 23 weeks gestation with pulmonary stenosis and right ventricular dilation of the heart which were detected by sonography. Fluorescence in situ hybridization and a multicolor banding technique were performed to verify the diagnosis as 47,XX, +mar.ish i(12)(p10)(TEL++) [16]/46,XX[4], and an autopsy confirmed the cardiac anomalies detected on antenatal sonography. (Korean J Lab Med 2009;29:366-70)

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“…3' 19-25 Although the results vary widely (in part due to the variety of investigative techniques), most intensive studies show the true prevalence of congenital heart defects, excluding bicuspid aortic valve, to approach 1%. 3 We have used this figure from the literature as a basis for comparison in the present study. That this prevalence among liveborns is similar to what we found among our population of chromosomally normal spontaneous abortions suggests that heart defects per se may not jeopardize the survival of the developing fetus within the developmental age range studied.…”

Section: Discussionmentioning

confidence: 99%

Significance of cardiac defects in the developing fetus: a study of spontaneous abortuses.

Ursell¹,

Byrne²,

Strobino³

1985

Circulation

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We investigated the impact of heart defects on the developing human fetus by examining 412 hearts from consecutive spontaneous abortuses. In each case, the cardiac morphology was correlated with the autopsy findings and the karyotype (unavailable in 115 hearts not successfully cultured). Of the 412 hearts, 10 (2.4%) contained structural defects (six ventricular septal defects, one atrial septal defect with ventricular septal defect, and one each coarctation, atrioventricular septal defect, and tetralogy of Fallot). Only one of 10 had major extracardiac malformations. Of the 277 fetuses with normal karyotype, three (1. 1%) had heart defects. Of the 20 fetuses with abnormal karyotype, four (20%) had heart defects. In the remaining three fetuses with heart defects, the karyotype was not obtained. Thus (1) 57% of spontaneous abortuses with congenital heart defects contained major chromosomal abnormalities, (2) the spectrum of heart defects among spontaneous abortuses was similar to that among liveborns, and (3) since the prevalence of heart defects among fetuses without other major abnormalities was similar to that among liveborns, heart defects alone may not jeopardize the survival of a developing fetus. Circulation 72, No. 6, 1232No. 6, -1236No. 6, , 1985 THE SIGNIFICANCE of heart defects in the developing fetus is uncertain. Major structural malformations of the heart that cause shunting and/or obstruction could be detrimental to the fetus. Studies have documented a higher prevalence of heart defects among stillborn infants than among liveborns. 1-3 However, it has never been clear from such studies whether the heart defect per se was responsible for death. In this regard, physiologic studies performed in animal preparations suggest that cardiac defects have little effect in utero.4 Thus, cardiac defects may be a part of some other abnormal developmental process that results in death of the fetus.We investigated the impact of heart defects on the developing human fetus by examining hearts from consecutive spontaneous abortuses. Analysis of the products of conception from spontaneous abortions provides an efficient means of evaluating the importance of morphologic and chromosomal anomalies to the survival of the fetus.5 We correlated the cardiac pathology in each case with the karyotype and pathology manifest in the remainder of the fetus. Our objectives in this study were (1) to determine the prevalence and nature of cardiac defects among spontaneously aborted fetuses, and (2) to develop insight into the significance of these defects in the developing fetus. Materials and methodsHearts examined in this study were obtained from a large epidemiology-cytogenetic-pathology study of consecutive spontaneous abortions identified at three New York City hospitals between 1976 and 1983. Approximately 4000 specimens were examined as a part of the larger study. However, because most products of conception from spontaneous abortions do not contain an organized fetus6 and some hearts are not large enough to study, o...

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Congenital heart disease in a cohort of 19,502 births with long-term follow-up

Cited by 489 publications

References 20 publications

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

Role of Ultrasonography in Early Gestation in the Diagnosis of Congenital Heart Defects

Prenatal Diagnosis of Pallister-Killian Syndrome Associated with Pulmonary Stenosis and Right Ventricular Dilatation

Significance of cardiac defects in the developing fetus: a study of spontaneous abortuses.

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