Rate Of Congenital Heart Defects Research Articles

Detailed screening for fetal anomalies and cardiac defects at the 11–13‐week scan

To assess the diagnostic efficacy of the first-trimester anomaly scan including first-trimester fetal echocardiography as a screening procedure in a 'medium-risk' population. In a prospective study, we evaluated 3094 consecutive fetuses with a crown-rump length (CRL) of 45-84 mm and gestational age between 11 + 0 and 13 + 6 weeks, using transabdominal and transvaginal ultrasonography. The majority of patients were referred without prior abnormal scan or increased nuchal translucency (NT) thickness, the median maternal age was, however, 35 (range, 15-46) years, and 53.8% of the mothers (1580/2936) were 35 years or older. This was therefore a self-selected population reflecting an increased percentage of older mothers opting for prenatal diagnosis. The follow-up rate was 92.7% (3117/3363). The prevalence of major abnormalities in 3094 fetuses was 2.8% (86/3094). The detection rate of major anomalies at the 11 + 0 to 13 + 6-week scan was 83.7% (72/86), 51.9% (14/27) for NT < 2.5 mm and 98.3% (58/59) for NT >or= 2.5 mm. The prevalence of major congenital heart defects (CHD) was 1.2% (38/3094). The detection rate of major CHD at the 11 to 13 + 6-week scan was 84.2% (32/38), 37.5% (3/8) for NT < 2.5 mm and 96.7% (29/30) for NT >or= 2.5 mm. The overall detection rate of fetal anomalies including fetal cardiac defects following a specialist scan at 11 + 0 to 13 + 6 weeks' gestation is about 84% and is increased when NT >or= 2.5 mm. This extends the possibilities of a first-trimester scan beyond risk assessment for fetal chromosomal defects. In experienced hands with adequate equipment, the majority of severe malformations as well as major CHD may be detected at the end of the first trimester, which offers parents the option of deciding early in pregnancy how to deal with fetuses affected by genetic or structural abnormalities without pressure of time.

Prenatal detection of heart defects in a non‐selected population of 30 149 fetuses—detection rates and outcome

To evaluate the detection rate of congenital heart defects (CHD) in a non-selected population and to follow outcome after diagnosis. All 30,149 fetuses/newborns that were scheduled to deliver at our hospital between February 1991 and December 2001 were registered prospectively. Of these, 29,460 (98%) fetuses had a prenatal ultrasound scan at our center. The routine fetal examination at approximately 18 weeks' gestation included the four-chamber view and the great arteries of the fetal heart. The follow-up period was 2-13 years. Of 97 major CHDs, 55 (57%) were detected prenatally, 16% (9/55) prior to, 66% (36/55) at and 18% (10/55) after the routine scan. Forty-four percent (19/43) of the isolated CHDs, 67% (36/54) of those with associated malformations and 48% (11/23) of the isolated ductal-dependent CHDs were detected. Thirty-eight percent (37/97) had an abnormal karyotype. Of the 55 major CHDs detected, 44% (24) of the pregnancies with lethal/serious fetal malformations were terminated, 15% (8) died in utero, 42% (23) were born alive and 27% (15) were still alive after 2 years. Of the 42 CHDs detected postnatally, 2% (1) were terminated for other reasons, 98% (41) were born alive and 81% (34) were still alive after 2 years. Prenatal detection of CHD is still a challenge, with a 57% detection rate only. Isolated defects are detected less frequently. The overall outcome suggests that the most severe defects are detected with the present screening setting; only 27% of the babies with major CHDs detected were still alive after 2 years. Data from long-term follow-up will be of importance for the counseling process.

OC15.01: How good is the obstetric routine cardiac scan?

The objective was to evaluate the detection rate of congenital heart defects (CHD) in a non-selected population and to follow outcome after diagnosis. All pregnant women delivering at our hospital between February 1991 and December 2001 were registered prospectively. Of those, 29 460 (98%) fetuses had a prenatal ultrasound at our center. The routine fetal examination at approximately 18 weeks included the four-chamber view and the great arteries of the fetal heart. The follow-up period was 2–13 years. Of 97 critical CHDs, 55 (57%) were detected prenatally: 16% (9/55) prior to, 66% (36/55) at and 18% (10/55) after the routine scan. Forty-four percent (19/43) of the isolated CHDs, 67% (36/54) of those with associated malformations and 48% (11/23) of the isolated ductal dependent CHDs were detected. Thirty-eight percent (37/97) had an abnormal karyotype. Of the 55 critical CHDs detected, 44% (24) of the pregnancies with lethal/serious fetal malformations were terminated, 15% (8) died in utero, 42% (23) were born alive, 27% (15) were still alive after 2 years. Of the 42 CHDs detected postnatally, 2% (1) were terminated for other reasons, 98% (41) born alive and 81% (34) were still alive after two years. Prenatal detection of CHD is still a challenge with 57% detection rate only. Isolated defects are detected less frequently. To improve the results, the great arteries have been added to the fetal heart examination in addition to the four chamber view, increasing the detection rate to some extent, but not as much as expected. Our data suggest that implementation of additional views might not give the expected results as long as the basic views are not fully exhausted. The importance of a stepwise introduction to the fetal heart examination still seems fundamental to the success in fetal heart scanning, underlining the importance of mastering the first step, the four-chamber view, before the next step is considered, emphasizing the need for additional training.

Abstracts of the 14th World Congress on Ultrasound in Obstetrics and Gynecology. 31 August-4 September 2004, Stockholm, Sweden.

To evaluate the impact of the examiner's ultrasound experience at the second trimester fetal examination, with emphasise on the fetal heart examination and the detection rate of critical congenital heart defects (CHD's). From February 1991 to December 2001, 29 026 pregnant women from a well-defined non-selected population received a second trimester fetal examination performed by nurse/midwives specially trained in obstetric ultrasound. One group of examiners who had performed more than 2000 routine examinations was compared to a group of examiners with 200–2000 performed examinations in addition to their basic ultrasound training. The fetal heart examination included the four-chamber view and the great arteries. During the first 5 years of the study period, the views obtained were prospectively registered in detail. Mean gestational age at routine exam was 18.3 (range 16–22) weeks. The experienced examiner showed significantly better results in obtaining the four-chamber view and the outlets than did the less experienced, 75 and 36%, respectively. The total detection rate of CHD's was 50% for experienced and 33% for less experienced examiners; for isolated CHD's, 44% versus 27% and CHD's with associated malformations 56% versus 37%, respectively. The learning curve for obtaining the four-chamber view and the outlets was approximately 2 years. Based on the 29 026 routine fetal examinations, a significant correlation was found between the level of experience of the examiners and the detection rate of critical congenital heart defects. This strongly indicates that a major focus on teaching and training is needed to improve the worldwide insufficient detection rate of fetal heart defects at the second trimester routine fetal examination.

Congenital heart defects in Central Australia.

To determine the incidence of congenital heart defects (CHD) in Aboriginal and non-Aboriginal infants in Central Australia and to compare this with the incidence elsewhere in Australia. Data on cases were obtained from patient records of the Alice Springs Hospital, Central Australia, the sole referral centre for paediatric and initial cardiac diagnostic services for the region. Patients with CHD proven by echocardiography reported between 1 January 1993 and 30 June 2000. Incidence of CHD using all live births in Central Australia as the denominator. 108 patients with CHD were detected among 6156 live births (incidence, 17.5 per 1000; 95% CI, 14.9-21.7 per 1000); 57 of 2991 were Aboriginal (19.0 per 1000; 95% CI, 14.4-24.6 per 1000) and 51 of 3165 were non-Aboriginal (16.1 per 1000; 95% CI, 12.0-21.1 per 1000). The difference between the two groups was not statistically significant (relative risk, 1.18; 95% CI, 0.81-1.72). CHD incidence in Central Australia was significantly higher than that reported for other parts of Australia (4.3 per 1000 live births in New South Wales and the Australian Capital Territory, 1981-1984; 7.65 and 12 per 1000 total births in Western Australia, 1980-1989, and South Australia, 1993-2000, respectively). The high rates of CHD in Central Australia may partly reflect the high utilisation of echocardiography for assessing minor lesions. However, the incidence of both major and minor types of CHD was significantly higher than previously reported from other regions of Australia. The role of socioenvironmental factors in this high incidence should be explored.

P292: Early diagnosis of congenital heart defects (CHD) in high-risk patients

To establish the validity of fetal echocardiography between 12 and 16 weeks gestation for early reassurance of normal anatomy and for the diagnosis of CHD in high-risk pregnant women. Transvaginal and transabdominal echocardiography was performed in 341 high-risk fetuses: increased nuchal translucency (n = 148), extracardiac anomalies (58), chromosomal abnormalities (5), family history of CHD (46), pregestational diabetes (41), teratogen exposure (4) and genetic sonography (38). Examinations were considered complete when were identified: four-chamber, outflow tracts, venous return and transvalvular Doppler. The results were compared with those observed in later scans, in the autopsy and/or in the neonatal examination. This is a prospective study. The rate of complete visualization was 94% (321/341). The overall rate of CHD rose to 26% (n = 63). In 54 (86%) the diagnosis was made in early gestation. All were major anomalies. Nine CHD were missed at early examination (4 ventricular septal defects, 3 complete atriventricular defects, 2 tetralogy of Fallot). Normality was confirmed in the remaining. There were no false positive. In 37 cases (10%) the follow-up was incomplete. Early fetal echocardiography is feasible in most cases and should be offered to high-risk pregnant women allowing the diagnosis of most major CHD. It must be complemented with later scans because of false negative cases, mainly septal defects.

Should the three vessels view be the part of routine scanning for congenital heart defects?

Objective: To estimate the effectiveness of the three vessels view in prenatal diagnosis of congenital heart defects (CHD).Methods: A total of 44 904 pregnant women of low‐ and high risk for CHD were examined from 16 to 39 weeks and followed throughout their gestation between January 1994 and December 2000.Results: CHD were diagnosed in 249 cases, 169 (67.9%) were classified as major cardiac anomalies. The overall prevalence of CHD was 5.5‰. Out of 169 cases 130 (76.9%) were detected prenatally including 46 isolated CHD. The detection rate of isolated CHD was 63.9% (46/72). From 1994 to 1996 four chamber view was the only one obligatory plan of heart examination. For the next three years, we used four chamber view in combination with identification of outflow tracts. In 1999 the three vessels view became the standard test in screening program for CHD. The detection rate of CHD increased from 54.2% over the first period of time to 80.4% in 1997–98 and to 87.9% at the end of the study. In 2000, this index run up to 89.4%. The part of missed main vessels malformations decreased from 39% in 1994 to 20% in 2000.Conclusion: The three vessels view is an easily obtained scan of the fetal heart. This plane can simplify prenatal cardiac examination and appreciably increase the detection rate of CHD. The three vessels view should be an obligatory part of routine scanning for CHD.

The risk for congenital heart defects in offspring of individuals with congenital heart defects.

Congenital heart defects (CHDs) occur in approximately 1% of all live births. Although most CHDs are of unknown etiology, a family history of CHDs is a known risk factor, and offspring of individuals with CHDs are at a higher risk of having CHDs. The aim of this study was to investigate the relative risk for CHDs to offspring of individuals with CHDs. The prevalence rates of CHDs in offspring of 203 individuals with CHDs and 282 individuals without CHDs were investigated. The study participants completed a questionnaire that included information on medical and reproductive history, lifestyle indicators, and family history of CHDs and other congenital malformations. The prevalence rates of CHDs in offspring were calculated. The prevalence of CHDs was 3.1% (18/575) in offspring of individuals with CHDs and 1.3% (8/589) in offspring of individuals without CHDs. The adjusted odds ratio for CHDs to offspring of parents with CHDs was 1.73 (95% confidence interval [95% CI] 0.89-2.44, p=0.02). The estimated relative risk for offspring to females with CHD was higher than for males [2.3 (95% CI 1.1-4.7, p=0.03) versus 1.31 (95% CI 0.48-4.30, p=0.66), respectively]. There was no suggestion of association between CHDs and maternal smoking, alcohol consumption, and use of medication during pregnancy. Offspring of parents with CHDs are at a higher risk for CHDs compared with the general population. Couples where one member is affected with CHD should receive pre-conceptional or pre-natal genetic counseling and should be informed about the magnitude of the potential risk of CHDs to the offspring.

Use of omeprazole during pregnancy — no hazard demonstrated in 955 infants exposed during pregnancy

Objectives: To evaluate the magnitude of possible fetal risks involved in maternal use of omeprazole during pregnancy. Study design: Infants whose mothers used omeprazole during pregnancy were identified from the Swedish Medical Birth Registry. A total of 955 exposed infants born in 1995–1999 were identified: 863 of which were exposed in early pregnancy and 131 later in pregnancy and 39 who had been exposed both in early and late pregnancy. Delivery outcome was studied: presence of congenital malformations, perinatal survival, low birth weight, low Apgar score and hospitalization up to the end of 1997. Results: No clear-cut indication of ill effects were seen. Five infants were stillborn and the rate of congenital heart defects was slightly increased, but both effects may be random. Conclusions: The present dataset and previously published data give no reason for concern after exposure for omeprazole during pregnancy.

Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe.

Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects.

Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non‐selected population

Few studies have addressed the prenatal detection rate of congenital heart defects in a non-selected population at 18 weeks of gestation. Our objective was to assess the change in the prenatal detection rate of congenital heart defects in such a population that resulted from incorporating the four-chamber view at the second-trimester routine ultrasound examination. The prenatal detection rate of heart defects was prospectively compared between 4435 fetuses in Phase I who were scanned without special attention to the heart, and 7459 fetuses in Phase II who were scanned incorporating the four-chamber view. Of the 49 heart defects in Phase 1, 17 (35%) were critical and three (18%) of these were detected prenatally. Of the 90 heart defects in Phase II, 23 (26%) were critical, six (26%) of these were detected prenatally at the 18 weeks' routine scan, and three were detected in the third trimester, providing a total prenatal detection rate of 39%. A defect was classified as critical when a surgical repair was likely to be required because of gross structural complexity having a functional significance, e.g. transposition of the great arteries, hypoplastic left heart syndrome, atrioventricular septal defect, coarctation of the aorta, and large ventricular septal defect. No non-critical heart defects were detected prenatally in either of the phases. The incidences in the total population were 11 and 12/1000 in Phases I and II, respectively. Thirty-two per cent of the critical and 16% of the non-critical defects had associated abnormalities and/or abnormal karyotype.(ABSTRACT TRUNCATED AT 250 WORDS)

Screening for congenital heart disease with the four-chamber view of the fetal heart

OBJECTIVE: Our objective was to determine the efficacy of the four-chamber view of the fetal heart in routine ultrasonographic examination as a screening tool for congenital heart defects. STUDY DESIGN: A prospective cohort study compared the detection rate of congenital heart defects among 5336 pregnant women screened with the ultrasonographic four-chamber view of the fetal heart from 1987 through 1989 with that among 3680 patients examined ultrasonographically without the four-chamber view during the 2 preceding years (1985 through 1986). All patients were followed until delivery or termination of pregnancy, and clinical or autopsy confirmation of prenatal findings were obtained on all cases. RESULTS: The overall incidence of congenital heart diseases was 5.2 per 1000 (47/9016). During the years 1985 through 1986 15 neonates with congenital heart diseases were identified, seven of which were prenatally diagnosed (sensitivity 43%). During the period 1987 through 1989 a four-chamber view of the fetal heart was obtained in 95% of cases; 32 cases of congenital heart disease occurred, 26 of which were diagnosed antenatally (sensitivity 81%, p = 0.01). Two false-positive diagnoses were made during the second time period, giving a specificity of 99.9%. CONCLUSION: The four-chamber view of the fetal heart is easily obtained, does not significantly increase the duration of a routine ultrasonographic examination, and has an excellent sensitivity for the identification of congenital heart diseases. ( Am J Obstet Gynecol 1992;167:1000–3.)

Facial clefts and congenital heart defects in children of parents with epilepsy: genetic and environmental etiologic factors.

Increased prevalence of cleft lip with or without cleft palate (CL(P], isolated cleft palate (CP), and congenital heart defects (CHD) in children of epileptic mothers have been ascribed to early fetal exposure to antiepileptic drugs (AED). However, common genetic factors responsible for both the malformations in question and the epileptic disorder might be of relevance for the increased rate of CL(P), CP, and CHD, rather than the influence of AED. The present review analyzes the literature on genetic and environmental etiologic factors (i.e. AED and epileptic seizures) that have been reported to increase the rate of CL(P), CP, and CHD in children of parents with epilepsy. Our data suggest that genetic factors are of minor importance for the etiology of facial clefts in offspring of epileptic patients. The rate of facial clefts was increased by a factor of 4.7 in children of AED-treated mothers with epilepsy compared with the background population values. Children of fathers with epilepsy and sibs of epileptic patients had no more facial clefts than expected. The rate of CHD in children of mothers and fathers with epilepsy was comparable to population figures. The role of epileptic seizures as a causative factor for CL(P), CP, and CHD is not settled, but seems to be of limited importance. Areas of future research are outlined concerning the teratogenic role of AED and their metabolites, especially on the postnatal intellectual development of the exposed children. Finally, the need for studies on prophylactic measures as well as the necessity of international surveillance systems on new AED teratogenicity are emphasized.

Familial risks of congenital heart defect assessed in a population-based epidemiologic study.

Congenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic exposures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in origin. Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population-based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore-Washington area. The rates of CHD were defined for first-degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Precurrence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology.

Congenital heart defects in Sotos sequence.

Of 10 patients with typical Sotos sequence, 5 had various congenital heart defects. They included 2 patients with secundum atrial septal defect, and one patient each with patent ductus arteriosus with mitral valve regurgitation, tricuspid atresia plus pulmonary atresia, and ventricular septal defect. Increases of head circumference and weight gain were less accelerated in the patients with congenital heart defects than in those without heart defects, while growth in length was comparable between the 2 groups. In view of these findings, it is suggested that the rate of congenital heart defects in patients with Sotos sequence is much higher than that reported in the literature.