Detection Rate Of Heart Defects Research Articles

Congenital diaphragmatic hernia with heart defect has a high risk for hypoplastic left heart syndrome and major extra-cardiac malformations: 10-year national cohort from Finland.

Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival. A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity. The total prevalence of CDH with heart defects was 0.6/10000 births and live birth prevalence 0.3/10000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10000) and live birth prevalence (500/10000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects. The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.

Ultrasound screening for fetal anomalies in Southern Sweden: a population‐based study

The accuracy of ultrasound in the diagnosis of congenital malformations has been the subject of many studies. Most of these are hospital-based studies over a limited period of years presenting high detection rates and also relatively high incidence of major malformations. We present here a large population-based study over a long period of years. The prenatal diagnoses are compared with the diagnoses of the newborns and aborted fetuses, including autopsy results. The detection rate of some common structural malformations is studied. The overall detection rate of malformations in our study was 28.4%. We noticed an improved detection rate of heart defects and cleft lip during the study period. The prevalence of malformations in the population was 2.6%. The false positive diagnoses were few, 54 cases, and mainly of a mild nature. Ultrasound screening of fetal malformations in our population has a low false positive rate and even though the overall sensitivity is low, 28.4%, the detection rate for many common structural malformations is relatively good.

WS06‐03Ultrasound‐detected heart defects associated with aneuploidy

In North America second trimester genetic ultrasound is offered to patients at risk for trisomy 21 and other chromosomal abnormalities who decline invasive testing. In most major studies in which the prevalence of ultrasound markers used for genetic ultrasound are reported, congenital heart defects are identified in less than 10% of fetuses. When one considers that over 50% of fetuses with trisomy 21 and 90% of fetuses with trisomies 13 and 18 have structural malformations of the heart, the question should be raised as to why the wide discrepancy in prevalence and detection rate of heart defects in these fetuses. The purpose of this presentation is to review the prevalence of CHD in fetuses with trisomy 21, trisomies 13 and 18, and all fetuses with chromosomal defects that were identified following second trimester amniocentesis. To ascertain the presence or absence of CHD, each fetus underwent a fetal echocardiographic study using real‐time and color Doppler ultrasound at the time of genetic amniocentesis.The results of the study demonstrated the following: The detection rate for trisomy 21 (n = 80) increased from 62% to 91% when examination of the fetal heart was performed. The detection rate for trisomy 18 (n = 30) increased from 84%% to 97% when the cardiovascular system was evaluated. For fetuses with any chromosomal abnormality (n = 103) advanced maternal age were examined, the examination of the heart increased the detection rate from 61% to 85%.Given the above findings, the inclusion of the fetal echocardiographic evaluation of the fetus significantly increased the detection rate for the above three groups of fetuses. If physicians and/or sonographers desire to increase the ultrasound detection rate for chromosomal abnormalities, examination of the fetal cardiovascular system must occur.

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)