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
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Nasal Bone ◽  
Risk Groups ◽  
Second Trimester

scholarly journals Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population

2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Savitree Pranpanus ◽  
Kanokkarn Keatkongkaew ◽  
Manaphat Suksai
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Pregnant Women ◽  
Chromosomal Abnormalities ◽  
Intraclass Correlation ◽  
Nasal Bone ◽  
Reference Ranges ◽  
Second Trimester ◽  
2D Ultrasound ◽  
Down Syndrome Screening

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.

Urine Hyperglycosylated hCG Plus Ultrasound Biometry for Detection of Down Syndrome in the Second Trimester in a High-Risk Population

2000 ◽  
Vol 95 (6, Part 1) ◽  
pp. 889-894 ◽  
Author(s):  
RAY BAHADO-SINGH ◽  
UTKU OZ ◽  
SHOHREH SHAHABI ◽  
AZIZA OMRANI ◽  
MAURICE MAHONEY ◽  
...  
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
High Risk Population ◽  
Second Trimester ◽  
Risk Population

scholarly journals 350: Observed:expected ratios: assessment of nasal bone length for second-trimester Down syndrome screening in a user-friendly fashion

2011 ◽  
Vol 204 (1) ◽  
pp. S143
Author(s):  
Jennifer McNamara ◽  
Harish Sehdev ◽  
Alison Cahill ◽  
Linda Odibo ◽  
George Macones ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Nasal Bone ◽  
Second Trimester ◽  
Bone Length ◽  
Nasal Bone Length ◽  
User Friendly ◽  
Down Syndrome Screening

Comparison of the efficiency of second-trimester nasal bone hypoplasia and increased nuchal fold in Down syndrome screening

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
Keyword(s):  
Down Syndrome ◽  
Nasal Bone ◽  
Second Trimester ◽  
Down Syndrome Screening

Defining nasal bone (NB) hypoplasia in second-trimester down syndrome screening: Does the use of multiples of the median (MOM) improve screening efficiency?

2006 ◽  
Vol 195 (6) ◽  
pp. S168
Author(s):  
Anthony Odibo ◽  
Harish M. Sehdev ◽  
David Stamilio ◽  
Alison Cahill ◽  
Linda Dunn ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Nasal Bone ◽  
Second Trimester ◽  
Screening Efficiency ◽  
Down Syndrome Screening

Genes, Syndromes, and Cancer

1986 ◽  
Vol 8 (5) ◽  
pp. 153-158
Author(s):  
Robert W. Miller
Keyword(s):  
North Carolina ◽  
Down Syndrome ◽  
High Risk ◽  
High Frequency ◽  
Single Case ◽  
Risk Groups ◽  
Single Case Report ◽  
Productive Research ◽  
Short Time ◽  
Risk Of Cancer

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.

Second trimester ultrasound prenasal thickness combined with nasal bone length: a new method of Down syndrome screening

2005 ◽  
Vol 25 (10) ◽  
pp. 906-911 ◽  
Author(s):  
Ron Maymon ◽  
Orna Levinsohn-Tavor ◽  
Howard Cuckle ◽  
Yosef Tovbin ◽  
Eli Dreazen ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Nasal Bone ◽  
New Method ◽  
Second Trimester ◽  
Bone Length ◽  
Nasal Bone Length ◽  
Down Syndrome Screening

461: Does the addition of fronto-maxillary-facial (FMF) angle evaluation improve the detection of down syndrome (DS) using nasal bone (ND) in the second-trimester?

2008 ◽  
Vol 199 (6) ◽  
pp. S137
Author(s):  
Anthony Odibo ◽  
Jean Schoenborn ◽  
Kimberly Haas ◽  
David Stamilio ◽  
George Macones
Keyword(s):  
Down Syndrome ◽  
Nasal Bone ◽  
Second Trimester

Systematic review and meta-analysis of performance of second-trimester nasal bone assessment in detection of fetuses with Down syndrome

2014 ◽  
Vol 43 (3) ◽  
pp. 247-253 ◽  
Author(s):  
M. Moreno-Cid ◽  
A. Rubio-Lorente ◽  
M. J. Rodríguez ◽  
G. Bueno-Pacheco ◽  
J. M. Tenías ◽  
...  
Keyword(s):  
Systematic Review ◽  
Down Syndrome ◽  
Meta Analysis ◽  
Nasal Bone ◽  
Second Trimester ◽  
Analysis Of Performance ◽  
Bone Assessment
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