Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis

Makrydimas, George; Sotiriadis, Alexandros; Ioannidis, John P. A.

doi:10.1067/s0002-9378(03)00645-8

Cited by 171 publications

(99 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In an early report, the NT had a sensitivity of 56% for detecting CHD using the 95th percentile and 40% using the 99th percentile cutoff. 119 Subsequent studies have demonstrated a much lower sensitivity: 31% (range, 25%-55%) in a meta-analysis using the 99th percentile 77 and only 10% to 15% in several studies of low-risk populations using the 99th percentile threshold. 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.…”

mentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

979

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

979

543

View full text Add to dashboard Cite

show abstract

“…The first large study on the subject reported a sensitivity of 56% for critical CHD, requiring surgical treatment (Hyett et al, 1997b). A subsequent meta-analysis including other seven studies (Makrydimas et al, 2003) reported a sensitivity of 30%. 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).…”

Section: Congenital Heart Defectsmentioning

confidence: 99%

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

et al. 2010

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

“…In a meta-analysis published by Makrydimas et al 24 , the estimated sensitivity of NT in the screening of CHD was 37%. This large variation of sensitivity among different studies is mainly attributable to the following factors:…”

Section: Discussionmentioning

confidence: 99%

O papel da translucência nucal no rastreamento de cardiopatias congênitas

Bruns

Moron

Murta

et al. 2006

Arq. Bras. Cardiol.

View full text Add to dashboard Cite

OBJECTIVEAssess the accuracy of the nuchal translucency (NT) measurement between 11 and 13 weeks and 6 days of gestation as a sonographic marker to screen for congenital heart defects (CHD). METHODSThis is a multi-center retrospective study in which singleton gestations of euploid fetuses were analyzed. NT measurement was performed in the first trimester examination when the fetal crown-rump length (CRL) was 45 to 84 mm, according to the criteria established by the Fetal Medicine Foundation. The cases were followed up to one month postpartum to assess the presence of CHD. RESULTSThree thousand six hundred and sixty four gestations were analyzed, of which twenty newborn infants had some congenital heart defect up to the first month of life (prevalence of 0.55%). The median NT in fetuses with CHD was 1.70 mm, and 1.60 mm in fetuses without CHD. However no statistically significant difference was observed between the two medians (Mann-Whitney test, p > 0.05). The NT sensitivity to detect CHD ranged from 15% to 20%, with a probability of false positive cases of 86.4% to 97.9%, depending on the cut-off point used. Odds ratio for CHD was high when compared to the classical indications for fetal echocardiography, ranging from 4.7 to 33.7, according to the cut-off point used.Mailing Address: Rafael Frederico Bruns CONCLUSIONDespite the low sensitivity of the test, increased NT is an important risk factor for CHD, and should be included in the strategy of prenatal screening for these diseases.

show abstract

Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis

Cited by 171 publications

References 25 publications

Diagnosis and Treatment of Fetal Cardiac Disease

Diagnosis and Treatment of Fetal Cardiac Disease

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

O papel da translucência nucal no rastreamento de cardiopatias congênitas

Contact Info

Product

Resources

About