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
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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