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

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.

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

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

2007 ◽  
Vol 197 (6) ◽  
pp. S31
Author(s):  
Anthony Odibo ◽  
Sabrina Gerkowicz ◽  
Harish M. Sehdev ◽  
David Stamilio ◽  
George Macones

2007 ◽  
Vol 197 (4) ◽  
pp. 361.e1-361.e4 ◽  
Author(s):  
Anthony O. Odibo ◽  
Harish M. Sehdev ◽  
David M. Stamilio ◽  
Alison Cahill ◽  
Linda Dunn ◽  
...  

2021 ◽  
Vol 19 (4) ◽  
Author(s):  
N.M. Prokopchuk ◽  
O.P. Antonyuk ◽  
Yu.A. Ivanov ◽  
M.I. Nikolenko

The most complete information about chromosomal pathology presence in fetuses of thefirst trimester of pregnancy is provided by the use of complex markers: PAPP-A (plasmaprotein-A associated with pregnancy) + free β-hCG (human β chorionic gonadotropin)ultrasound (CP - collar space + nasal bone) for the 10-14th week of development.Purpose of the work – determination of the risk of chromosomal pathology in fetuses inthe first trimester of pregnancy based on markers: biochemical testing of PAPP + freeβ-hCG from the 10-14th week of pregnancy; Ultrasound investigation (US): measurementof the collar space and nasal bone presence.Material and methods: 258 pregnant women with a high risk of chromosomalabnormalities in the first trimester were examined by means of markers: biochemicaltesting of PAPP + free β-hCG and measurements of the collar space. The values ofthe measured markers are expressed as a constituent of the expected median for thecorresponding gestational term. Medians, the 5th and 95th percentiles, percentage outsidethe expected 5th and 95th percentiles, as well as percentage outside the expected 5th /95th percentiles to establish fetal pathology. The study was performed on an ultrasoundscanner Voluson Expert 8 using a transducer with 3-4D transabdominal RAB 4-8D, RAB6-D, and transvaginal RIC 5-9D. Medical Center "EKHOMED" is engaged in expertultrasound envestigations, as well as invasive examinations, which are required for verification of fetal pathology, is the base of Danylo Halytsky Lviv Medical University,DPGE, Department of Radiation Diagnostics.Results. The analysis was carried out in 258 pregnant women with a high risk ofchromosomal abnormalities in the first trimester using markers: biochemical testing ofPAPP + free β-hCG from 10-14 weeks of pregnancy; measurement of the collar spacethickness and visualization or absence of the nasal bone. The pathology is increasedexponentially with the collar space from 0.2% for those fetuses whose thickness isbetween the 5th and 95th centiles, up to 65% for a thickness of 6.5 mm or more. Inthe group of fetuses with chromosomal abnormalities, about 50% have trisomies 21,25% have trisomies 18 or trisomies 13, 10% have Turner syndrome, 5% have triploidy,and 10% have other chromosomal abnormalities. The combination of collar size andPAPP-A and free ß-hCG testing results in a sensitivity of over 90% and a specificity ofover 95%. The rate of false positives is reduced from 3.0% to 2.5%.Conclusions. The thickness of the collar space in chromosomal abnormalities growsexponentially with the thickness of the collar space from 0.2% for those fetuses whosethickness is between the 5th and 95th centile, up to 65% with a collar space thicknessof 6.5 mm or more. In the group of fetuses with chromosomal abnormalities, about 50%have trisomies 21, 25% have trisomies 18 or 13, 10% have Turner's syndrome, 5% havetriploidy, and 10% have other chromosomal abnormalities. The combination of the sizeof the collar space and PAPP-A and free ß-hCG determinations showed a sensitivity ofmore than 90% and a specificity over 95%.


2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.


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