Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency

Zosmer, Nurit; Souter, Vivienne; Chan, Chun Chung; Huggon, I. C.; Nicolaides, Kypros H.

doi:10.1111/j.1471-0528.1999.tb08405.x

Cited by 102 publications

(85 citation statements)

References 15 publications

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“…A hypoplastic left heart and septal defects displayed stronger associations with an increased NT. This observation is comparable with previous reports of the highest detection rate in cases involving a hypoplastic left heart syndrome [14,15].…”

Section: Types Of Fetal Chds Screenable Via An Increased Ntsupporting

confidence: 82%

“…An earlier and a higher rate of detection of fetal CHDs was found when ultrasound measurement of increased fetal NT thickness (!3 mm) at weeks 10-13 of gestation was demonstrated to be associated with fetal cardiac malformations [9,[12][13][14][15]. The findings in most of the publications are in accord from this respect, but Schwärzler et al were not able to confirm such an association in an unselected population [18].…”

Section: Discussionsupporting

confidence: 51%

“…The prevalence of major CHDs increases in parallel with the NT thickness [12][13][14] and Zosmer et al suggest the 95th centile of NT thickness as a cutoff at which the follow-up of such pregnancies by sonographers and specialists in fetal echocardiography is recommended. Our data indicate that screening on the basis of an increased NT thickness, with a cutoff of 3 mm, identifies 51.4% of the major abnormalities of the heart and great arteries at weeks 10-13 of gestation.…”

Section: Cutoffmentioning

confidence: 99%

“…An increased fetal NT thickness at weeks 10-13 of gestation is associated with fetal aneuploidies [10,11], cardiac [11][12][13][14] and other structural abnormalities [15] and certain genetic syndromes [15,16]. Since an increased NT accompanies such a wide range of fetal abnormalities, careful clinical management should be observed.…”

Section: Follow-up and Clinical Management Of Pregnancies With An Incmentioning

confidence: 99%

“…An increased fetal NT in the first-trimester was reported to be a highly efficient ultrasound marker for aneuploidies [10,11], and was also found to be highly suggestive of fetal cardiac [11][12][13][14] and other structural abnormalities [15][16][17].…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Increased nuchal translucency and congenital heart defects in euploid fetuses

Orvos

Wayda

Kozinszky

et al. 2002

European Journal of Obstetrics & Gynecology and Reproductiv

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Objective: To determine the utility of the first-trimester fetal nuchal translucency (NT) thickness in the prediction of fetal cardiac malformations. Design: Retrospective study. Setting: Department of Obstetrics and Gynecology and Medical Genetics, University of Szeged. Methods: The pre-and postnatal course and outcome, and the relationship between the first-trimester fetal NT thickness and fetal congenital heart defects (CHDs) in 4309 pregnancies ended up with birth or therapeutic abortion between January 1998 and June 2000 were registered. Prenatal care included first-and second-trimester fetal sonography at weeks 10-13 and 18-20, respectively. Results: 4251 births and 58 first-and second-trimester therapeutic abortions due to lethal congenital malformations or chromosomal abnormalities were recorded. Altogether 209 (4.9%) congenital malformations were detected, 39 (18.7%) of which were heart defects with normal karyotype. At birth, 151 congenital malformations were diagnosed, 34 of them were known prenatally. The prevalence of CHDs was 9 per 1000 pregnancies. The measurement of fetal NT thickness was available in 35 of the 39 fetuses with heart defects: it was !3 mm in 18 (51.4%) and <3 mm in 17 (48.6%). A sensitivity of 51.4% was found at a cutoff of 3 mm. Conclusions: An increased NT thickness in chromosomally normal fetuses was found to be highly associated with CHDs and identified in more than half of the affected cases. Furthermore, an increased NT of !3 mm can be regarded a selection criterion for early second-trimester targeted fetal echocardiography and for increased fetal and neonatal surveillance. #

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Section: Types Of Fetal Chds Screenable Via An Increased Ntsupporting

confidence: 82%

Section: Discussionsupporting

confidence: 51%

Section: Cutoffmentioning

confidence: 99%

Section: Follow-up and Clinical Management Of Pregnancies With An Incmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Increased nuchal translucency and congenital heart defects in euploid fetuses

Orvos

Wayda

Kozinszky

et al. 2002

European Journal of Obstetrics & Gynecology and Reproductiv

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First trimester ultrasonography in screening and detection of fetal anomalies

Sonek

2007

American J of Med Genetics Pt C

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An obstetrical ultrasound examination provides invaluable information regarding the fetus. Until the mid-1980s, ultrasound in the first trimester was limited to localization of the pregnancy, establishing viability, and accurate dating. With the advent of high-resolution ultrasound and transvaginal scanning, a significant amount of information about the fetus can be gained and provided to the patient at a very early stage in gestation. This article provides an overview of the role of first trimester (11-13 þ 6 weeks' gestation) ultrasound in screening and diagnosis of fetal anomalies. The first trimester is an ideal time for screening for aneuploidy, primarily due to the advantages that nuchal translucency (NT) measurement provides. NT measurement is also useful in establishing the risk of congenital cardiac disorders and a number of genetic and non-genetic syndromes. Significant NT thickening is associated with an increase in perinatal morbidity and mortality. Potential mechanisms resulting in increased NT are discussed. A number of new ultrasound markers for fetal aneuploidy have been investigated over the past several years, some of which appear to improve the screening efficacy of early ultrasonography. The role of these is reviewed. A number of fetal anomalies can now be consistently diagnosed in the first trimester. Their appearance at this early gestational age is discussed as well. It is clear that, data obtained by first trimester ultrasound are useful in counseling expectant parents and in planning the appropriate follow-up.

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Fetal heart scanning in the first trimester

Carvalho

2004

Prenatal Diagnosis

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The detailed study of the fetal cardiac anatomy in the first trimester of pregnancy by means of ultrasound, transvaginally or transabdominally, is feasible and remains a safe procedure provided thermal and mechanical indices are taken into account. Optimal time for successful imaging of the four chambers and great arteries in early gestation appears to be between 13 to 14 weeks. In experienced hands, first-trimester fetal echocardiography is accurate in detecting major structural cardiac abnormalities and yields a high negative predictive value. Thus, in a clinical setting, it can be offered to families considered to be 'at risk' of cardiac defects (e.g. those with previous family history or when fetal nuchal translucency is increased) and can be a powerful tool to reassure families regarding normality of major cardiac structures and connections. However, the early detection of an important structural abnormality (chromosomally normal or not) may be associated with a high termination rate if this is an acceptable option. The high prevalence of associated chromosomal and extracardiac abnormalities for many of the high-risk families, who may benefit from this approach, cannot be ignored. Therefore, fetal heart scanning in the first trimester should be performed in conjunction with detailed first-trimester obstetric scanning.

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Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency

Cited by 102 publications

References 15 publications

Increased nuchal translucency and congenital heart defects in euploid fetuses

Increased nuchal translucency and congenital heart defects in euploid fetuses

First trimester ultrasonography in screening and detection of fetal anomalies

Fetal heart scanning in the first trimester

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