Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study
Abstract Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. Design: Population based cohort study. Subjects: 29 154 singleton pregnancies with chromosomally normal fetuses at...
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| Published in | BMJ Vol. 318; no. 7176; pp. 81 - 85 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
British Medical Journal Publishing Group
09.01.1999
British Medical Association BMJ Publishing Group Ltd BMJ Publishing Group LTD British Medical Journal |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0959-8138 1468-5833 1756-1833 |
| DOI | 10.1136/bmj.318.7176.81 |
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| Abstract | Abstract Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. Design: Population based cohort study. Subjects: 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation. Setting: Fetal medicine centre in London. Main outcome measure: Prevalence of major defects of the heart and great arteries. Results: Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively. Conclusions: Measurement of fetal nuchal translucency thickness—traditionally used to identify fetuses at high risk of aneuploidy—at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries. |
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| AbstractList | Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. Design: Population based cohort study. Subjects: 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation. Setting: Fetal medicine centre in London. Main outcome measure: Prevalence of major defects of the heart and great arteries. Results: Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively. Conclusions: Measurement of fetal nuchal translucency thickness—traditionally used to identify fetuses at high risk of aneuploidy—at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries. Abstract Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. Design: Population based cohort study. Subjects: 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation. Setting: Fetal medicine centre in London. Main outcome measure: Prevalence of major defects of the heart and great arteries. Results: Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively. Conclusions: Measurement of fetal nuchal translucency thickness-traditionally used to identify fetuses at high risk of aneuploidy-at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries. To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation.OBJECTIVESTo examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation.Population based cohort study.DESIGNPopulation based cohort study.29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation.SUBJECTS29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation.Fetal medicine centre in London.SETTINGFetal medicine centre in London.Prevalence of major defects of the heart and great arteries.MAIN OUTCOME MEASUREPrevalence of major defects of the heart and great arteries.Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively.RESULTSOf 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively.Measurement of fetal nuchal translucency thickness-traditionally used to identify fetuses at high risk of aneuploidy-at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries.CONCLUSIONSMeasurement of fetal nuchal translucency thickness-traditionally used to identify fetuses at high risk of aneuploidy-at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries. To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation. Population based cohort study. 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation. Fetal medicine centre in London. Prevalence of major defects of the heart and great arteries. Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively. Measurement of fetal nuchal translucency thickness-traditionally used to identify fetuses at high risk of aneuploidy-at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries. |
| Audience | Professional |
| Author | Perdu, Marc Sharland, Gurleen Nicolaides, Kypros H Hyett, Jon Snijders, Rosalinde |
| AuthorAffiliation | a Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King’s College Hospital Medical School, London SE5 8RX, b Fetal Cardiology Unit, Guy’s Hospital, London SE1 9RT |
| AuthorAffiliation_xml | – name: a Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King’s College Hospital Medical School, London SE5 8RX, b Fetal Cardiology Unit, Guy’s Hospital, London SE1 9RT |
| Author_xml | – sequence: 1 givenname: Jon surname: Hyett fullname: Hyett, Jon organization: aHarris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE RX – sequence: 2 givenname: Marc surname: Perdu fullname: Perdu, Marc organization: aHarris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE RX – sequence: 3 givenname: Gurleen surname: Sharland fullname: Sharland, Gurleen organization: bFetal Cardiology Unit, Guy's Hospital, London SE RT – sequence: 4 givenname: Rosalinde surname: Snijders fullname: Snijders, Rosalinde organization: aHarris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE RX – sequence: 5 givenname: Kypros H surname: Nicolaides fullname: Nicolaides, Kypros H organization: aHarris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE RX |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/9880278$$D View this record in MEDLINE/PubMed |
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| Notes | istex:9FD2B61B6233D3903A4B5332C299922CB9AD78FE ark:/67375/NVC-NH2WJ8R9-7 href:bmj-318-81-1.pdf local:bmj;318/7176/81 Correspondence to: Professor Nicolaides PMID:9880278 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Contributors: JH, MP, GS, RS, and KHN contributed to the planning and execution of the study and the writing of the paper; KHN will act as guarantor for the paper. |
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| References_xml | – volume: 6 start-page: 313 year: 1995 article-title: Fetal heart screening in low-risk pregnancies. publication-title: Ultrasound Obstet Gynecol – volume: 3 start-page: 310 year: 1993 article-title: Early diagnosis of fetal congenital heart disease by transvaginal echocardiography. publication-title: Ultrasound Obstet Gynecol – volume: 351 start-page: 1023 year: 1998 article-title: First trimester transabdominal fetal echocardiography. publication-title: Lancet – volume: 352 start-page: 343 year: 1998 article-title: UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. publication-title: Lancet – volume: 102 start-page: 957 year: 1995 article-title: Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. publication-title: Br J Obstet Gynaecol – volume: 303 start-page: 1165 year: 1991 article-title: Effectiveness of routine ultrasonography in detecting fetal structural anomalies in a low risk population. publication-title: BMJ – volume: 75 start-page: 496 year: 1990 article-title: First-trimester diagnosis of fetal congenital heart disease by transvaginal two-dimensional and Doppler echocardiography. publication-title: Obstet Gynecol – volume: 5 start-page: 372 year: 1995 article-title: Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non-selected population. publication-title: Ultrasound Obstet Gynecol – volume: 304 start-page: 867 year: 1992 article-title: Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. publication-title: BMJ – volume: 165 start-page: 688 year: 1991 article-title: Transvaginal fetal echocardiography in early pregnancy: normative data. publication-title: Am J Obstet Gynecol – volume: 10 start-page: 697 year: 1990 article-title: Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation, using transvaginal sonography. publication-title: Prenat Diagn – volume: 16 start-page: 103 year: 1995 article-title: Incidence of congenital heart disease: I. Postnatal incidence. publication-title: Pediatr Cardiol – volume: 121 start-page: 31 year: 1985 article-title: Congenital heart disease: prevalence at livebirth. The Baltimore-Washington infant study. publication-title: Am J Epidemiol – volume: 304 start-page: 1474 year: 1992 article-title: Value of routine ultrasound scanning at 19 weeks: a four year study of 8849 deliveries. publication-title: BMJ – volume: 52 start-page: 542 year: 1984 article-title: Echocardiographic and anatomical correlations in fetal congenital heart disease. publication-title: Br Heart J – volume: 7 start-page: 216 year: 1996 article-title: First-trimester ultrasound screening for chromosomal defects. publication-title: Ultrasound Obstet Gynecol – volume: 157 start-page: 648 year: 1987 article-title: Fetal echocardiographic screening for congenital heart disease: the importance of the four-chamber view. publication-title: Am J Obstet Gynecol – volume: 337 start-page: 1654 year: 1997 article-title: Increased nuchal translucency as a marker for fetal chromosomal defects. publication-title: N Engl J Med – volume: 10 start-page: 242 year: 1997 article-title: Increased nuchal translucency at 10–14 weeks of gestation as a marker for major cardiac defects. publication-title: Ultrasound Obstet Gynecol – volume: 351 start-page: 1662 year: 1998 article-title: First trimester transabdominal fetal echocardiography. publication-title: Lancet – volume: 8 start-page: 8 year: 1996 article-title: Incidence of congenital heart disease in fetuses of diabetic mothersa retrospective study of 326 cases. publication-title: Ultrasound Obstet Gynecol – volume: 69 start-page: 207 year: 1997 article-title: Abnormalities of the heart and great arteries in first trimester chromosomally abnormal fetuses. publication-title: Am J Med Genet – volume: 58 start-page: 334 year: 1996 article-title: Familial recurrence of congenital heart disease in a prospective series of mothers referred for fetal echocardiography. publication-title: Am J Cardiol – volume: 84 start-page: 69 year: 1994 article-title: First-trimester diagnosis of fetal congenital heart disease by transvaginal ultrasonography. publication-title: Obstet Gynecol – volume: 7 start-page: 245 year: 1996 article-title: Abnormalities of the heart and great vessels in chromosomally normal fetuses with increased nuchal translucency thickness at 10–13 weeks of gestation. publication-title: Ultrasound Obstet Gynecol – volume: 43 start-page: 323 year: 1971 article-title: Congenital heart disease in 56,109 births. Incidence and natural history. publication-title: Circulation – reference: 9880259 - BMJ. 1999 Jan 9;318(7176):70-1 |
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| Snippet | Abstract Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at... Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14... Objectives To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14... To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of... |
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| SubjectTerms | Abnormalities Adolescent Adult Aorta Arteries Birth defects Cardiovascular abnormalities Chromosome Aberrations Cohort Studies Congenital heart defects Echocardiography Female Fetus Heart Heart Defects, Congenital - diagnostic imaging Humans Mass Screening - methods Maternal Age Middle Aged Neck - diagnostic imaging Neck - embryology Nuchal translucency measurement Pregnancy Pregnancy Outcome Prenatal diagnosis Prevalence Retrospective Studies Sensitivity and Specificity Ultrasonography Ultrasonography, Prenatal Ventricular heart septal defects |
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| Title | Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study |
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