Does First-Trimester Screening Modify the Natural History of Congenital Heart Disease?

Jičínská, Hana; Vlašín, Pavel; Jičínský, Michal; Grochová, Ilga; Tomek, Viktor; Vólaufová, Júlia; Škovránek, J; Marek, Jan

doi:10.1161/circulationaha.115.020864

Cited by 54 publications

(25 citation statements)

References 34 publications

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“…In our study region and similar to the rest of the world, the time frame for performing prenatal diagnostics has shifted to an earlier time frame during pregnancy but still remains in the second trimester. Despite the reported increase in the number of TOPs in early diagnosis 9,24 , the TOP average did not change fundamentally in our study.…”

Section: Discussioncontrasting

confidence: 82%

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Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings

Pavlíček

Tauber

Klásková

et al. 2020

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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Aims.To determine the frequency of pregnancy terminations due to prenatal congenital heart defect (CHD) and assess the agreement fetal echocardiography (FECHO) and autopsy findings. Methods. The data were retrospectively assessed between 2008 and 2017 in a population of 116 698 live births. The correlations between the FECHO and autopsy findings were classified into five levels of agreement: complete, partial, altered diagnosis, disagreement, and unfeasible autopsy. Results. Totally, 293 CHDs were identified and 49% of families (143/293) decided to terminate the pregnancy. In 1% (2/143) of cases, the autopsy could not be performed, for the other 99% (141/143), the pathologist confirmed the presence of CHDs. Complete agreement between FECHO and autopsy was achieved in 85% (122/143). In 10% (14/143) of cases, the pathologist found minor findings, which were not described in the FECHO. In 4% (5/143) of cases, the pathologist changed the main diagnosis. Conclusion. Altogether, the results indicated that FECHO is a highly sensitive method for the prenatal detection of CHD but is incapable of detecting the complete spectrum of cardiac defects. Autopsies verified the diagnosis, confirmed the overall impairment in the fetus, and provided data for further counselling of the affected family.

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Section: Discussioncontrasting

confidence: 82%

“…Hypoplastic left heart syndrome was defined as a heart with a small left ventricle and flow reversal in the aortic arch. Coarctation of the aorta with ventricular septal defect was classified as coarctation of the aorta 8,9 .…”

Section: Classification Of Cardiac Abnormalitiesmentioning

confidence: 99%

Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings

Pavlíček

Tauber

Klásková

et al. 2020

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub

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“…Coarctation of the aorta with a ventricular septal defect was classifi ed as coarctation of the aorta. 6,7 The collected data were stored and processed with Microsoft Excel software. Excel software was also used for descriptive statistics and basic charts.…”

Section: Methodsmentioning

confidence: 99%

“…Although fi rst--trimester CHD screening is possible, it can lead to a large number of terminated pregnancies, and signifi cantly impairs the outcome of pregnancy. 7 In up to 70% of cases, an early fetal diagnosis of a signifi cant CHD results in pregnancy termination. In the present study, more than 90% of fetal diagnoses were determined in the second trimester.…”

Section: (4) 232mentioning

confidence: 99%

Development, effectiveness, and current possibilities in prenatal detection of congenital heart defects

Pavlíček¹,

Piegzova²,

Klásková³

et al. 2020

Cor Vasa

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SOUHRN Cíl: Studium vývoje a efektivity prenatální diagnostiky vrozených srdečních vad (VSV). Sledování celkového výskytu VSV a úrovně fetální detekce jednotlivých typů vad. Metodika: Retrospektivní studie, která zpracovala údaje o ultrazvukových vyšetřeních fetálního srdce provedených gynekology, genetiky a dětskými kardiology a postnatálních vyšetřeních dětí s VSV dětskými kardiology v letech 2011 až 2018. Přítomnost dětského kardiologa u všech autopsií plodů po ukončení gravidity z důvodu fetálně detekované VSV. Došetření genetických a extrakardiálních patologií u plodů a novorozenců s významnou VSV. Výsledky: Během sledovaného osmiletého období bylo v populaci 90 880 živě narozených diagnostikováno 351 (3,9/1 000) významných VSV. V 72 % (252/351) se VSV vyskytly jako izolované patologie. Prenatálně bylo detekováno 66 % (230/351) VSV. Efektivita screeningu významných VSV postupně stoupala, z 57 % v roce 2008 na 80 % v roce 2018. Nejvyšší fetální detekci měly vady alterující morfologii komor (80-100 %). Ve skupině prenatálně detekovaných VSV se 47 % (109/230) rodičů rozhodlo pro ukončení gravidity, 5 % (10/230) fetů intrauterinně zemřelo a 48 % (111/230) rodin pokračovalo v graviditě. Závěr: VSV se vyskytují většinou jako izolovaná anomálie. Významné VSV jsou dobře detekovatelné prenatálně, jejich fetální detekce má vysokou efektivitu a trvale se zlepšuje. Nejvyšší detekce je u VSV diagnostikovatelných ze základní čtyřdutinové projekce. Participace dětské kardiologie na fetálním screeningu VSV zvyšuje jeho efektivitu a při fi nální diagnostice se jeví nezbytná.ABSTRACT Aim: To study the development and effectiveness of prenatal diagnostics for congenital heart defects (CHDs). To monitor the overall incidence of CHDs and the level of detection for individual types of fetal defects. Methods: This retrospective cohort study retrieved data on ultrasound examinations of the fetal heart (fetal echocardiography), conducted by a gynecologist or pediatric cardiologist, and postnatal standardized examinations, conducted by a pediatric cardiologist, between 2011 and 2018. A pediatric cardiologist was present at all fetal autopsies and provided precise descriptions of the heart defect. All fetuses and newborns with severe pathologies were included to identify associated genetic and extracardiac pathologies. Results: During the 8-year monitoring period, a total of 351 cases of severe heart defects were diagnosed in a population of 90,880 live births (3.9/1 000). CHDs manifested as an isolated anomaly in 72% of cases (252/351). In total, 66% of CHDs (230/351) were detected prenatally and 34% (121/351) of CHDs remained undetected until after birth. Screening effectiveness gradually improved over time; among the severe CHDs, 57% and 80% were detected prenatally in 2011 and 2018, respectively. Among all CHDs, the highest prenatal detection rates (80-100%) were observed for pathologies that affected ventricular morphology. In the group of prenatally diagnosed CHDs, 47% (109/230) of families decided to terminate the pregnancy, 5%...

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“…Hypoplastic left heart syndrome was defined as a heart with a small left ventricle and flow reversal in the aortic arch. Coarctation of the aorta with a ventricular septal defect was classified as a coarctation of the aorta [11,12].…”

Section: Introductionmentioning

confidence: 99%

First symptoms of prenatally undetected heart defects

Pavlíček

Klásková

Kaprálová

et al. 2020

Preprint

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Background: Severe or critical congenital heart defects (CHDs) are 35% of those detected only after birth. The aim of the study was to measure the incidence of these CHDs, identify their clinical symptoms, and determine individual risk periods for CHD manifestation. Methods: This retrospective cohort study was conducted from 2009 to 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was noted as early neonatal (0–7 days), late neonatal (8–28 days), in early infancy (1–6 months), or in late infancy (6–12 months). The first symptom for which the child was referred to a pediatric cardiologist was defined as a symptom of CHD. Results : There were 598 severe CHDs diagnosed (3.3 cases/1000), and 70% were isolated anomalies. A concomitant genetic disorder was diagnosed in 20%, and extracardiac pathology with a normal karyotype was present in 10%. Of the total, 53% of CHDs were detected prenatally and excluded. The remaining 47% developed CHD symptoms postnatally. Of these, 74% were diagnosed as early neonates, 16% as late neonates, and 10% as infants. Defects requiring repeated operations manifested significantly earlier than those with requiring one primary correction. The most common symptoms leading to the diagnosis of CHD were heart murmur and cyanosis. Conclusions : Despite the effectiveness of prenatal diagnosis, some children will be born with undiagnosed major heart defects. Assessment of symptoms and early detection of the defect is crucial.

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Does First-Trimester Screening Modify the Natural History of Congenital Heart Disease?

Cited by 54 publications

References 34 publications

Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings

Congenital fetal heart defect - an agreement between fetal echocardiography and autopsy findings

Development, effectiveness, and current possibilities in prenatal detection of congenital heart defects

First symptoms of prenatally undetected heart defects

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