Cardiac defects in chromosomally normal fetuses with increased nuchal translucency at 10-14 weeks of gestation

Galindo, A.; Comas, C.; Martínez, J. M.; Gutiérrez-Larraya, F.; Carrera, J. M.; Puerto, B.; Borrell, A.; Mortera, C.; Fuente, Pablo de la

doi:10.1080/713605830

Cited by 27 publications

(34 citation statements)

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“…There does not seem to be an association between any specific CHD and enlarged NT (Simpson and Sharland, 2000). The chance of CHD increases exponentially with increasing NT from 0.6 to 5% when the NT is between 2.5 and 3.5 mm, to 64% when it is >8.5 mm (Hyett et al, 1997b;Hyett et al, 1999;Ghi et al, 2001;Galindo et al, 2003;Lopes et al, 2003;Hyett, 2004;McAuliffe et al, 2004;Atzei et al, 2005;Bahado-Singh et al, 2005;Simpson et al, 2007;Clur et al, 2008).…”

Section: Congenital Heart Defectsmentioning

confidence: 93%

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

et al. 2010

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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.

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Section: Congenital Heart Defectsmentioning

confidence: 93%

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

et al. 2010

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“…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

1,016

543

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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.

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“…[2] Neck transparency refers to the normal subcutaneous space between the cervical spine and skin that is seen in the first trimester ultrasonography. [345] It is possible to measure the thickness of the fetal NT in the 10–14 week of pregnancy via transabdominal and transvaginal methods. These are sensitive and precise methods for screening chromosomal defects and cardiac defects in both normal and abnormal chromosomal fetuses.…”

Section: Introductionmentioning

confidence: 99%