Nuchal translucency measurement and congenital heart defects: modest association in low‐risk pregnancies

Müller, M. A.; Clur, S. A.; Timmerman, E.; Bilardo, Caterina M.

doi:10.1002/pd.1643

Cited by 40 publications

(39 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…78,120,121 The likelihood of a fetus with normal karyotype having CHD once an increased NT is detected increases from 1% to ≈3% for NT above the 95th percentile and to ≈6% for NT at or above the 99th percentile. 78,79,[122][123][124] The risk for CHD rises exponentially with increasing NT measurement, 79,[122][123][124][125] with a risk estimated at 24% if NT is ≥6 mm 80 and >60% with a NT ≥8.5 mm. 79 Some centers advocate use of the 95th percentile cutoff for a specific crown-rump length to determine the NT value above which a fetal echocardiogram should be offered.…”

mentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

973

543

View full text Add to dashboard Cite

Background— The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease. Methods and Results— A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of cardiac function and the cardiovascular system, and available treatment options. The American College of Cardiology/American Heart Association classification of recommendations and level of evidence for practice guidelines were applied to the current practice of fetal cardiac medicine. Recommendations relating to the specifics of fetal diagnosis, including the timing of referral for study, indications for referral, and experience suggested for performance and interpretation of studies, are presented. The components of a fetal echocardiogram are described in detail, including descriptions of the assessment of cardiac anatomy, cardiac function, and rhythm. Complementary modalities for fetal cardiac assessment are reviewed, including the use of advanced ultrasound techniques, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography for rhythm assessment. Models for parental counseling and a discussion of parental stress and depression assessments are reviewed. Available fetal therapies, including medical management for arrhythmias or heart failure and closed or open intervention for diseases affecting the cardiovascular system such as twin–twin transfusion syndrome, lung masses, and vascular tumors, are highlighted. Catheter-based intervention strategies to prevent the progression of disease in utero are also discussed. Recommendations for delivery planning strategies for fetuses with congenital heart disease including models based on classification of disease severity and delivery room treatment will be highlighted. Outcome assessment is reviewed to show the benefit of prenatal diagnosis and management as they affect outcome for babies with congenital heart disease. Conclusions— Fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound; however, new technologies, including 3- and 4-dimensional echocardiography, magnetic resonance imaging, and fetal electrocardiography and magnetocardiography, are available. Medical and interventional treatments for select diseases and strategies for delivery room care enable stabilization of high-risk fetuses and contribute to improved outcomes. This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.

show abstract

mentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

973

543

View full text Add to dashboard Cite

show abstract

“…In a pooled analysis of data from four large centers the same author found that a NT ≥2.5 and ≥3.5 mm was found in 35.5 and 23%, respectively, of 397 euploid fetuses with major CHD (Makrydimas et al, 2005). Low detection rates for CHD (around 15%) are reported in studies where NT is measured in unselected or low-risk populations (Westin et al, 2006;Müller et al, 2007) and when fetuses with cystic hygromas are excluded (Simpson et al, 2007). However, two recent studies, a meta-analysis of four studies and a 10-year overview of the association between nuchal fluid accumulation and CHD diagnosed at referral centers, re-evaluated the role of NT measurement in screening for CHD (Wald et al, 2008;Vogel et al, 2009) and showed enhanced detection and improved neonatal outcome in duct dependent CHD, such as transposition of the great arteries (Wald et al, 2008).…”

Section: Congenital Heart Defectsmentioning

confidence: 99%

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

et al. 2010

Self Cite

View full text Add to dashboard Cite

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.

show abstract

“…They found that at nuchal translucency of at least the 95 th centile, the sensitivity for detecting CHD was 14%. Mü ller et al [8] looked at 4876 euploid fetuses from the low-risk population and found that the sensitivity of nuchal translucency measurement at higher than the 95 th percentile for detecting CHD was only 8%.…”

Section: Anomaly Screening In the First Trimestermentioning

confidence: 97%