Screening for Open Spina Bifida in a Routine Clinical Setting at the First-Trimester Scan: A Prospective Multicentre Cohort Study

2021 ◽  
pp. 1-7
Author(s):  
Johanna Tiechl ◽  
Samira Abdel Azim ◽  
Katharina Leitner ◽  
Astrid Berger ◽  
Irene Mutz-Dehbalaie ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Sensitivity And Specificity ◽  
First Trimester ◽  
Outcome Data ◽  
Prospective Multicentre Study ◽  
Multicentre Cohort Study ◽  
Routine Clinical Setting ◽  
Trimester Screening ◽  
Open Spina Bifida ◽  
Multicentre Cohort

<b><i>Objective:</i></b> The aim of this study was to investigate the performance of screening for open spina bifida (OSB) integrated into the routine first-trimester screening. <b><i>Method:</i></b> This is a prospective multicentre study of 4,755 women undergoing first-trimester ultrasound scans over a 4-year period. Measurements of the brainstem (BS) diameter and brainstem-to-occipital-bone (BSOB) distance were performed. The cisterna magna (CM) was measured in the tilted axial view. <b><i>Results:</i></b> Pregnancy outcome data were available for 4,658 fetuses included in this study. There were 5 fetuses with OSB, and in all of them, the BS/BSOB ratio and the CM measurements were abnormal. The sensitivity and specificity of a BS/BSOB ratio &#x3e;1 were 100%. The sensitivity of a CM width &#x3c;5th centile was 100%, and the specificity was 95.1%. In 4.6% of cases, the BS/BSOB ratio was between the 95th percentile and 1. In 87.1% of these cases, the CM was normal, and 12.9% had a CM below the 5th percentile. <b><i>Conclusion:</i></b> Screening for OSB is feasible in routine first-trimester scans. The BS/BSOB ratio shows a very good sensitivity and specificity. In cases with near-normal values for the BS/BSOB ratio, the CM width might be helpful for further assessment.

scholarly journals A Case of Enlarged Intracranial Translucency in a Fetus with Blake’s Pouch Cyst

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Ambra Iuculano ◽  
Maria Angelica Zoppi ◽  
Rosa Maria Ibba ◽  
Giovanni Monni
Keyword(s):  
Spina Bifida ◽  
First Trimester ◽  
First Trimester Screening ◽  
Intracranial Translucency ◽  
Trimester Screening ◽  
Open Spina Bifida

The intracranial translucency (IT) is a recently introduced marker of open spina bifida (OSB). In this study, we describe a case of a fetus affected by Blake’s pouch cyst which showed alterations of BS/BSOB ratio at the first trimester screening.

scholarly journals P17.07: What is marker that will be used for first trimester screening of open spina bifida?

2012 ◽  
Vol 40 (S1) ◽  
pp. 237-238
Author(s):  
S. Buyukkurt ◽  
U. Kucukgoz ◽  
Gulec ◽  
R. Melekoglu ◽  
C. Evruke ◽  
...  
Keyword(s):  
Spina Bifida ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Open Spina Bifida

Cell-Free DNA Screening for Fetal Aneuploidy

2021 ◽  
pp. 115-120
Author(s):  
Ashley N. Battarbee ◽  
Neeta L. Vora
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
Chromosomal Abnormalities ◽  
Area Under The Curve ◽  
First Trimester ◽  
Outcome Data ◽  
Cell Free Dna ◽  
High Risk Women ◽  
Free Dna ◽  
Trimester Screening

In a prospective, multicenter blinded study at 35 international centers, the Noninvasive Examination of Trisomy (NEXT) study evaluated the performance of cell-free DNA screening for fetal trisomy compared to standard first trimester screening with nuchal translucency and serum analytes in a routine prenatal population. Among the 15,841 women who had standard screening and cell-free DNA analysis with neonatal outcome data, there were 68 chromosomal abnormalities (1 in 236). Of these, 38 were Trisomy 21 (1 in 417). Cell-free DNA analysis had a higher area under the curve (AUC) for trisomy 21, compared to standard screening (0.999 vs. 0.958, p = 0.001). Cell-free DNA analysis also had greater sensitivity, specificity, and positive predictive value compared to standard screening for trisomy 21, 18, and 13. While cell-free DNA analysis cannot detect all chromosome abnormalities, it performed better than standard screening for detection of trisomies 21, 18, and 13 in a routine population including low- and high-risk women.

scholarly journals P11.07: Tomographic ultrasound imaging (TUI) for the evaluation of open spina bifida in the first trimester

2018 ◽  
Vol 52 ◽  
pp. 166-166
Author(s):  
N. Volpe ◽  
T. Fanelli ◽  
A. Dall'Asta ◽  
G. Morganelli ◽  
G. Schera ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Ultrasound Imaging ◽  
First Trimester ◽  
Tomographic Ultrasound Imaging ◽  
Open Spina Bifida

Sonographic detection of open spina bifida in the first trimester: review of the literature

2017 ◽  
Vol 33 (7) ◽  
pp. 1101-1106 ◽  
Author(s):  
César Meller ◽  
Horacio Aiello ◽  
Lucas Otaño
Keyword(s):  
Spina Bifida ◽  
First Trimester ◽  
Review Of The Literature ◽  
Open Spina Bifida

Maxillo–occipital line: a sonographic marker for screening of open spina bifida in the first trimester of pregnancy

2018 ◽  
Vol 32 (24) ◽  
pp. 4073-4079 ◽  
Author(s):  
Jayshree Ramkrishna ◽  
Edward Araujo Júnior ◽  
Alberto Borges Peixoto ◽  
Fabricio Da Silva Costa ◽  
Simon Meagher
Keyword(s):  
Spina Bifida ◽  
First Trimester ◽  
First Trimester Of Pregnancy ◽  
Open Spina Bifida

Pregnancy outcome following first-trimester exposure to fingolimod: A collaborative ENTIS study

2020 ◽  
pp. 135245852092962
Author(s):  
Emmanuelle Pauliat ◽  
Marlies Onken ◽  
Corinna Weber-Schoendorfer ◽  
Valentin Rousson ◽  
Marie-Claude Addor ◽  
...  
Keyword(s):  
Confidence Interval ◽  
Pregnancy Outcomes ◽  
Group Versus ◽  
First Trimester ◽  
Interferon Β ◽  
Multicentre Cohort Study ◽  
Exposure During Pregnancy ◽  
Trimester Exposure ◽  
Multicentre Cohort ◽  
Rule Out

This prospective multicentre cohort study investigated pregnancy outcomes after fingolimod use for multiple sclerosis during pregnancy. Pregnancy outcomes of 63 fingolimod and 62 interferon-β-exposed pregnancies were compared. Rates of major congenital anomalies (MCA) were 4.8% (2/42) in the fingolimod group versus 2.3% (1/44) in the interferon-β group (odds ratio, 2.2; 95% confidence interval, 0.2–24.6). The adjusted hazard ratio for spontaneous abortion in fingolimod versus interferon-β-exposed pregnancies was 0.6 (95% confidence interval, 0.2–1.8). Further studies are needed to definitely rule out a moderately increased MCA risk after fingolimod exposure during pregnancy.

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