First‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β‐hCG and PAPP‐A: a 5‐year prospective study

Objective To investigate the performance of first‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free β‐human chorionic gonadotr...

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Published in:Ultrasound in obstetrics & gynecology 2012-05, Vol.39 (5), p.528-534
Main Authors: Ghaffari, S. R., Tahmasebpour, A. R., Jamal, A., Hantoushzadeh, S., Eslamian, L., Marsoosi, V., Fattahi, F., Rajaei, M., Niroomanesh, S., Borna, S., Beigi, A., Khazardoost, S., Saleh‐Gargari, S., Rahimi‐Sharbaf, F., Farrokhi, B., Bayani, N., Tehrani, S. E., Shahsavan, K., Farzan, S., Moossavi, S., Ramezanzadeh, F., Dastan, J., Rafati, M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Biomarkers - blood
Cardiology. Vascular system
Chorionic Gonadotropin, beta Subunit, Human - blood
chromosomal abnormalities
Chromosome Disorders - diagnosis
Chromosome Disorders - embryology
Chromosome Disorders - pathology
Chromosomes, Human, Pair 13
Down Syndrome - diagnosis
Down Syndrome - embryology
Down Syndrome - pathology
ductus venosus flow
Endocardial and cardiac valvular diseases
Female
first‐trimester screening
Gynecology. Andrology. Obstetrics
Heart
Humans
Maternal Age
Medical sciences
Middle Aged
nasal bone
Nasal Bone - diagnostic imaging
Nasal Bone - embryology
Nasal Bone - pathology
nuchal translucency
Nuchal Translucency Measurement
Pregnancy
Pregnancy Trimester, First
Pregnancy-Associated Plasma Protein-A - metabolism
Prospective Studies
Risk Assessment
tricuspid regurgitation
Tricuspid Valve Insufficiency - diagnostic imaging
Tricuspid Valve Insufficiency - embryology
Tricuspid Valve Insufficiency - physiopathology
Triploidy
Trisomy - diagnosis
Trisomy - pathology
Trisomy 13 Syndrome
Ultrasonography, Prenatal
Young Adult
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Summary:Objective To investigate the performance of first‐trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free β‐human chorionic gonadotropin (fβ‐hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A) at a one‐stop clinic for assessment of risk (OSCAR). Methods In total, 13 706 fetuses in 13 437 pregnancies were screened for chromosomal abnormalities during a period of 5 years. Maternal serum biochemical markers and maternal age were evaluated in combination with NT, NT + NB, NT + NB + TR, and NT + NB + TR + DV flow data in 8581, 242, 236 and 4647 fetuses, respectively. Results In total, 51 chromosomal abnormalities were identified in the study population, including 33 cases of trisomy 21, eight of trisomy 18, six of sex chromosome abnormality, one of triploidy and three of other unbalanced abnormalities. The detection rate and false‐positive rate (FPR) for trisomy 21 were 93.8% and 4.84%, respectively, using biochemical markers and NT, and 100% and 3.4%, respectively, using biochemical markers, NT, NB, TR and DV flow. Conclusion While risk assessment using combined biochemical markers and NT measurement has an acceptable screening performance, it can be improved by the integrated evaluation of secondary ultrasound markers of NB, TR and DV flow. This enhanced approach would decrease the FPR from 4.8 % to 3.4 %, leading to a lower number of unnecessary invasive diagnostic tests and subsequent complications, while maintaining the maximum level of detection rate. Pre‐ and post‐test genetic counseling is of paramount importance in either approach. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
ISSN:0960-7692
1469-0705
DOI:10.1002/uog.10051