OC053: The efficiency of second-trimester nasal bone (NB) hypoplasia as a Down syndrome marker in low versus high-risk groups

2008 ◽  
Vol 32 (3) ◽  
pp. 259-260
Author(s):  
A. O. Odibo ◽  
H. Sehdev ◽  
D. M. Stamilio ◽  
G. A. Macones
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Savitree Pranpanus ◽  
Kanokkarn Keatkongkaew ◽  
Manaphat Suksai

Abstract Background To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. Methods A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. Results In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. Conclusion The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. Trial registration Registration number: REC 61–029-12–3. Date of registration: 18 May 2018.


2000 ◽  
Vol 95 (6, Part 1) ◽  
pp. 889-894 ◽  
Author(s):  
RAY BAHADO-SINGH ◽  
UTKU OZ ◽  
SHOHREH SHAHABI ◽  
AZIZA OMRANI ◽  
MAURICE MAHONEY ◽  
...  

2011 ◽  
Vol 204 (1) ◽  
pp. S143
Author(s):  
Jennifer McNamara ◽  
Harish Sehdev ◽  
Alison Cahill ◽  
Linda Odibo ◽  
George Macones ◽  
...  

2008 ◽  
Vol 199 (3) ◽  
pp. 281.e1-281.e5 ◽  
Author(s):  
Anthony O. Odibo ◽  
Harish M. Sehdev ◽  
Sabrina Gerkowicz ◽  
David M. Stamilio ◽  
George A. Macones

1986 ◽  
Vol 8 (5) ◽  
pp. 153-158
Author(s):  
Robert W. Miller

Children are not equally susceptible to cancer. Some are at high risk, as recognized clinically and epidemiologically. Laboratory studies of these children and their neoplasms have recently provided new understanding of human carcinogenesis, which would not have come from animal experimentation alone. Certain mechanisms are proving to be the same for a spectrum of cancers. Hence, from the study of rarities, generalizations are becoming apparent, and they have implications for medical practice. Clinicians have played an important role in this regard, because their observations have led to the recognition of high-risk groups. Sometimes a single case report starts an avalanche of productive research, as when Bruton1 first described congenital X-linked a-γ-globulinemia in 1952. When mechanisms are delineated, strategies can be developed for prevention, early diagnosis, and better treatment. The pediatrician in practice should know the characteristics that put children at high risk of cancer, so the parents can be advised of exposures to be avoided. This will enable the physician to adjust the frequency and nature of examinations to allow detection of neoplasia early when the prospect for cure is greatest. LEUKEMIA Disorders With Preesistent Chromosomal Aberrations Down Syndrome. In 1953 to 1955, individuals with Down syndrome were first noted to have a high frequency of leukemia. The observation was simple: three or four cases were identified within a short time on pediatric wards in Paris, North Carolina, and Minnesota.


2005 ◽  
Vol 25 (10) ◽  
pp. 906-911 ◽  
Author(s):  
Ron Maymon ◽  
Orna Levinsohn-Tavor ◽  
Howard Cuckle ◽  
Yosef Tovbin ◽  
Eli Dreazen ◽  
...  

2014 ◽  
Vol 43 (3) ◽  
pp. 247-253 ◽  
Author(s):  
M. Moreno-Cid ◽  
A. Rubio-Lorente ◽  
M. J. Rodríguez ◽  
G. Bueno-Pacheco ◽  
J. M. Tenías ◽  
...  

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