Prenatal diagnosis of cardiac defects: accuracy and benefit

Clur, S. A.; Brussel, Peter M. van; Ottenkamp, Jaap; Bilardo, C. M.

doi:10.1002/pd.3837

Cited by 28 publications

(24 citation statements)

References 33 publications

(56 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our overall mortality rate was 6.6% which correlates well with recent data ranging between 6.5 and 8.7% [32,33], and considerably lower than the 11-16% reported [34,35]. This rate was very low for simple TGA (1.9%) compared to recent studies showing mortality rates between 3.7 and 12.7% [7,35].…”

Section: Discussionsupporting

confidence: 70%

Transposition of the Great Arteries in Fetal Life: Accuracy of Diagnosis and Short-Term Outcome

Domínguez-Manzano

Mendoza²,

Herraı̀z³

et al. 2016

Fetal Diagn Ther

View full text Add to dashboard Cite

Objective: To review our series of prenatally diagnosed transposition of the great arteries (TGA) to analyze the accuracy of fetal echocardiography for achieving a precise diagnosis of the TGA type (simple vs. complex) and to examine the short-term outcome. Methods: A total of 94 cases of simple and complex TGA types (ventriculoarterial discordance with atrioventricular concordance) prenatally evaluated in our referral center between 1998 and 2014 were included. Fetuses with additional congenital anomalies and those with incomplete follow-up were excluded. Prenatal diagnostic accuracy and short-term survival were analyzed for the different types of TGA. Results: The TGA type was correctly ascertained prenatally in 93.3%. Most fetuses were diagnosed with simple TGA (62.7%). There were 6 discrepancies: 5 fetuses with simple TGA had postnatally TGA + ventricular septal defect (VSD; n = 3) or TGA + VSD + coarctation of the aorta (n = 2), and 1 fetus with TGA + VSD postnatally showed severe left ventricular outflow tract obstruction. The mortality rate was 6.6%; it was higher in complex versus simple forms (12.8 vs. 1.9%, p = 0.038), and in cases with intramural coronary artery versus those without (60 vs. 3.5%, p < 0.001). We found no relationship between the arrangement of the great arteries and coronary arterial abnormalities. Conclusions: Simple TGA has a better outcome than the complex forms. A discrepancy rate of 7% with potential influence on the prognosis of survival between the prenatal diagnosis of the TGA type and the definitive diagnosis was found.

show abstract

Section: Discussionsupporting

confidence: 70%

Transposition of the Great Arteries in Fetal Life: Accuracy of Diagnosis and Short-Term Outcome

Domínguez-Manzano

Mendoza²,

Herraı̀z³

et al. 2016

Fetal Diagn Ther

View full text Add to dashboard Cite

show abstract

“…Studies of the correlation between prenatal ultrasound scans and pathology examinations show that diagnostic misclassifications principally concern heart disease [18,19,21], with the most frequent diagnostic error that of a ventricular septal defect, which often marks valvular disease [19,39]. Similarly, it has already been shown that postnatal pathology examinations fail to confirm a substantial portion of cerebral malformations [23].…”

Section: Discussionmentioning

confidence: 99%

False positive morphologic diagnoses at the anomaly scan: marginal or real problem, a population-based cohort study

Debost‐Legrand

Laurichesse‐Delmas

Francannet

et al. 2014

BMC Pregnancy Childbirth

View full text Add to dashboard Cite

BackgroundCongenital malformations occur in 3-4% of live births. Their prenatal detection is performed by ultrasound screening. Any announcement about a suspected malformation is a source of stress for the parents, and misdiagnosis during ultrasound screening can lead to expensive and sometimes iatrogenic medical interventions. In this study, we aim to determine the false-positive rate, first overall and then by anatomical system, of ultrasound screening for congenital malformations in the second and third trimesters of pregnancy.MethodsOur sample includes all children born between 1 January, 2006, and 31 December, 2009, in the French region of Auvergne, whose mother had a prenatal ultrasound diagnosis of a congenital malformation during the second or third trimester of pregnancy confirmed by a follow-up ultrasound examination by an expert consultant ultrasonographer. The study included 526 fetuses, divided in 3 groups: false positives, diagnostic misclassifications, and true positives. The rates of false positives and diagnostic misclassifications were calculated for the sample as a whole and then by anatomical system.ResultsOverall, the false-positive rate was 8.8% and the rate of diagnostic misclassification 9.2%. The highest false-positive rates were found for renal and gastrointestinal tract malformations, and the highest diagnostic misclassification rates for cerebral and cardiac malformations. The diagnostic misclassification rate was significantly higher than the false-positive rate for cardiac malformations.ConclusionThe false-positive rate during prenatal ultrasound is not insignificant; these misdiagnoses cause psychological stress for the parents and overmedicalisation of the pregnancy and the child.

show abstract

“…Our findings, however, do support the continued practice of referring pregnancies with enlarged NT measurements for a fetal echocardiogram because of the substantially better prenatal detection of CCHDs with referral. 40 If such screening is done for aneuploidy detection or early anatomy screening, a CRL-specific 99th percentile cutoff appears to out-perform the currently used cutoff of 3.5 mm in the identification of pregnancies that are at increased risk for CCHDs. In millimeters, by percentile and 3.5 mm cutpoints in the detection of critical congenital heart defects that occur without chromosomal defects.…”

Section: Obstetrics Researchmentioning

confidence: 99%

Risk of critical congenital heart defects by nuchal translucency norms

Jelliffe‐Pawlowski

Norton

Shaw

et al. 2015

American Journal of Obstetrics and Gynecology

View full text Add to dashboard Cite

Prenatal diagnosis of cardiac defects: accuracy and benefit

Abstract: Prenatal diagnosis was accurate and the counselling appropriate in most cases; however, a few errors were made. The diagnosis of aortic coarctation remains challenging.

Cited by 28 publications

References 33 publications

Transposition of the Great Arteries in Fetal Life: Accuracy of Diagnosis and Short-Term Outcome

Transposition of the Great Arteries in Fetal Life: Accuracy of Diagnosis and Short-Term Outcome

False positive morphologic diagnoses at the anomaly scan: marginal or real problem, a population-based cohort study

Risk of critical congenital heart defects by nuchal translucency norms

Contact Info

Product

Resources

About