scholarly journals Fetal nasal bone hypoplasia in the second trimester and risk of abnormal karyotype in a population of Chinese pregnant women

2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Yan Du ◽  
Yunyun Ren ◽  
Yingliu Yan ◽  
Zhongxing Fu ◽  
Chao Zhu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Nasal Bone ◽  
Second Trimester ◽  
Abnormal Karyotype ◽  
Fetal Nasal Bone

scholarly journals Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women

2017 ◽  
Vol 97 (2) ◽  
pp. 180-186 ◽  
Author(s):  
Yan Du ◽  
Yunyun Ren ◽  
Yingliu Yan ◽  
Li Cao
Keyword(s):  
Chinese Women ◽  
Nasal Bone ◽  
Second Trimester ◽  
Abnormal Karyotype ◽  
Fetal Nasal Bone

Variation of Fetal Nasal Bone Length in Second-Trimester Fetuses According to Race and Ethnicity

2005 ◽  
Vol 24 (11) ◽  
pp. 1487-1489 ◽  
Author(s):  
Carolyn M. Zelop ◽  
Elizabeth Milewski ◽  
Kimberly Brault ◽  
Peter Benn ◽  
Adam F. Borgida ◽  
...  
Keyword(s):  
Race And Ethnicity ◽  
Nasal Bone ◽  
Second Trimester ◽  
Bone Length ◽  
Fetal Nasal Bone ◽  
Nasal Bone Length

OP21.03: Fetal nasal bone evaluation in Down syndrome in the second trimester in Chinese population

2007 ◽  
Vol 30 (4) ◽  
pp. 528-528
Author(s):  
H. N. Xie ◽  
Y. X. Zhu ◽  
L. J. Li
Keyword(s):  
Down Syndrome ◽  
Chinese Population ◽  
Nasal Bone ◽  
Second Trimester ◽  
Fetal Nasal Bone

Ultrasonographic measurement of fetal nasal bone length in the second trimester in Korean population

2007 ◽  
Vol 27 (2) ◽  
pp. 154-157 ◽  
Author(s):  
Eui Jung ◽  
Hye-Sung Won ◽  
Pil Ryang Lee ◽  
Ahm Kim
Keyword(s):  
Nasal Bone ◽  
Korean Population ◽  
Second Trimester ◽  
Bone Length ◽  
Fetal Nasal Bone ◽  
Nasal Bone Length

Mid-second trimester measurement of fetal nasal bone length in the Japanese population

2006 ◽  
Vol 32 (4) ◽  
pp. 403-407 ◽  
Author(s):  
Takeshi Kanagawa ◽  
Hirotsugu Fukuda ◽  
Yukiko Kinugasa ◽  
Mihyon Son ◽  
Koichiro Shimoya ◽  
...  
Keyword(s):  
Japanese Population ◽  
Nasal Bone ◽  
Second Trimester ◽  
Bone Length ◽  
Fetal Nasal Bone ◽  
Nasal Bone Length

scholarly journals Noninvasive Prenatal Screening Based on Second-Trimester Ultrasonographic Soft Markers in Low-Risk Pregnant Women

2021 ◽  
Vol 12 ◽  
Author(s):  
Yunyun Liu ◽  
Xiaosha Jing ◽  
Lingling Xing ◽  
Sha Liu ◽  
Jianlong Liu ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
Nasal Bone ◽  
Low Risk ◽  
Trisomy 13 ◽  
Second Trimester ◽  
Predictive Values ◽  
Noninvasive Prenatal Screening ◽  
Hypoplastic Nasal Bone

Background: We aimed to assess the clinical application of noninvasive prenatal screening (NIPS) based on second-trimester ultrasonographic soft markers (USMs) in low-risk pregnant women.Methods: Data of pregnant women between April 2015 and December 2019 were retrospectively analyzed. Pregnant women [age at expected date of confinement (EDC) of <35 years; low risks for trisomy 21 (T21) and trisomy 18 (T18) based on maternal serum screening; presenting second-trimester USMs (7 types)] who successfully underwent NIPS and had available follow-up information were included in our study. Cases with positive NIPS results were prenatally diagnosed. All patients were followed up for 6 months to 2 years after NIPS, and their clinical outcomes were obtained. Subgroup analyses were performed according to the different USMs.Results: NIPS suggested that among a total of 10,023 cases, 37 (0.37%) were at high risk of aneuploidy, including 4 T21, 6 trisomy 13 (T13), and 27 sex chromosome abnormalities (SCA). Ten cases with aneuploidy (0.10%) were confirmed by prenatal diagnosis, consisting of two T21 and eight SCA. The eight fetuses with SCA consisted of one monosomy X, two XXY, one XXXY, one XXX, one XYY, and two mosaicisms. T21 was detected in one fetus with absent or hypoplastic nasal bone and one fetus with echogenic intracardiac focus (EICF). SCA was detected in five fetuses with EICF, two fetuses with multiple soft markers, and one fetus with echogenic bowel. The positive rate of chromosomal aneuploidy was significantly higher in fetuses with absent or hypoplastic nasal bone (6.25 vs. 0.10%, p = 0.017), echogenic bowel (3.7 vs. 0.10%, p = 0.029), and multiple soft markers (0.678 vs. 0.10%, p = 0.045) than in the total fetuses. The positive predictive values (PPVs) of NIPS in these three groups were 100%, 50%, and 100%, respectively. EICF accounted for 93.25% (9,346/10,023) of the study population, whereas the PPV of NIPS was only 20%.Conclusion: NIPS is an advanced screening test for low-risk pregnant women. In the 10,023 pregnant women sampled, SCA were more common than autosomal trisomy, and EICF was the most frequent USM but the least predictive aneuploidy. Further aneuploidy evaluation is suggested for low-risk pregnant women whose ultrasound indicates absent or hypoplastic nasal bone, echogenic bowel, or multiple soft markers. NIPS can serve as a second-line complementary screening for these women.

Ultrasonographic measurement of fetal nasal bone in the Korean population at the first and second trimester

2004 ◽  
Vol 191 (6) ◽  
pp. S181
Author(s):  
Eui Jung ◽  
Hye-Sung Won ◽  
Jung-Sun Kim ◽  
Jae-Yoon Shim ◽  
Pil Ryang Lee ◽  
...  
Keyword(s):  
Nasal Bone ◽  
Korean Population ◽  
Second Trimester ◽  
Fetal Nasal Bone

Outcome of Pregnancies with Isolated Absent Fetal Nasal Bone in the Second Trimester

2019 ◽  
Vol 6 (1) ◽  
pp. 31-34
Author(s):  
Purvi Desai ◽  
Binodini Chauhan ◽  
Manisha Jhawar
Keyword(s):  
Nasal Bone ◽  
Second Trimester ◽  
Fetal Nasal Bone

Fetal nasal bone and trisomy 21 in the second trimester

2005 ◽  
Vol 25 (6) ◽  
pp. 511-515 ◽  
Author(s):  
E. Viora ◽  
G. Errante ◽  
A. Sciarrone ◽  
S. Bastonero ◽  
B. Masturzo ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Nasal Bone ◽  
Second Trimester ◽  
Fetal Nasal Bone

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.

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