Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?
Autor: | Caterina M. Bilardo, A. Coumans, Monique C. Haak, Esther Sikkel, Francesca Bardi, Joke B. G. M. Verheij, Mireille N. Bekker, Attie T.J.I. Go, Eva Pajkrt, Pien Bosschieter |
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Přispěvatelé: | Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics and gynaecology, Obstetrics and Gynaecology, APH - Personalized Medicine, APH - Quality of Care, ARD - Amsterdam Reproduction and Development, Obstetrics & Gynecology |
Jazyk: | angličtina |
Rok vydání: | 2020 |
Předmět: |
0301 basic medicine
ANOMALIES Percentile Trisomy 13 Syndrome Abnormal Karyotype Chromosome Disorders 030105 genetics & heredity 0302 clinical medicine Ectodermal Dysplasia Pregnancy LEOPARD Syndrome IMPLEMENTATION Genetics (clinical) Netherlands 030219 obstetrics & reproductive medicine Obstetrics ABNORMALITIES Noonan Syndrome Obstetrics and Gynecology DEFECTS Middle Aged NORMAL KARYOTYPE Female Original Article Abnormality Nuchal Translucency Measurement Adult Heart Defects Congenital medicine.medical_specialty Adolescent Noninvasive Prenatal Testing FETOPLACENTAL MOSAICISM Ultrasonography Prenatal Congenital Abnormalities 03 medical and health sciences Young Adult MICROARRAY THICKNESS medicine DiGeorge Syndrome Humans Genotyping Fetus business.industry Other Research Radboud Institute for Health Sciences [Radboudumc 0] Facies Original Articles medicine.disease Aneuploidy MATERNAL BLOOD Failure to Thrive First trimester Pregnancy Trimester First EXPERIENCE Down Syndrome Trisomy business Trisomy 18 Syndrome |
Zdroj: | Prenatal Diagnosis, 40(2), 197-205. Wiley Prenatal Diagnosis Prenatal Diagnosis, 40(2), 197-205. WILEY Prenatal Diagnosis, 40, 197-205 Bardi, F, Bosschieter, P, Verheij, J, Go, A, Haak, M, Bekker, M, Sikkel, E, Coumans, A, Pajkrt, E & Bilardo, C 2020, ' Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening? ', Prenatal Diagnosis, vol. 40, no. 2, pp. 197-205 . https://doi.org/10.1002/pd.5590 Prenatal Diagnosis, 40(2), 197-205. Wiley-Blackwell Prenatal Diagnosis, 40(2), 197-205. John Wiley and Sons Ltd Prenatal diagnosis, 40(2), 197-205. John Wiley and Sons Ltd Prenatal Diagnosis, 40, 197-205. John Wiley & Sons Ltd. Prenatal Diagnosis, 40, 2, pp. 197-205 |
ISSN: | 0197-3851 |
Popis: | Objectives To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first‐trimester screening and to investigate which of these abnormalities would be missed if cell‐free fetal DNA (cfDNA) were used as a first‐tier screening test for chromosomal abnormalities. Methods This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post‐mortem investigations were collected. Results In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single‐gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively. Conclusion Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement. What's already known about this topic? Nuchal translucency is associated with a wide range of chromosomal and structural abnormalities. What does this study add? If cell‐free DNA were used as the only first trimester screening test, 34% of fetal congenital abnormalities would be missed in the first trimester of pregnancy.In high‐risk pregnancies with increased nuchal translucency (NT≥95th percentile), 23% of abnormalities are found in fetuses with NT between 95th and 99th percentile. |
Databáze: | OpenAIRE |
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