Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation

Ferreira, Ana Fatima A.; Syngelaki, Argyro; Smolin, A.; Vayna, Ana-Maria; Nicolaides, Kypros H.

doi:10.1002/pd.3920

Cited by 23 publications

(28 citation statements)

References 25 publications

(30 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our findings were later confirmed by other researches [39,40], regarding Dandy-Walker syndrome, vermian hypoplasia, Blake's pouch cyst, and trisomies [13,18] and triploid fetuses that have measurable abnormalities in the posterior brain [40][41][42][43].…”

Section: Limitations Of the First Trimester Scansupporting

confidence: 79%

CNS Abnormalities at 11-14 Weeks

Iliescu¹,

Comanescu²

2017

Neonat Pediatr Med

View full text Add to dashboard Cite

Section: Limitations Of the First Trimester Scansupporting

confidence: 79%

CNS Abnormalities at 11-14 Weeks

Iliescu¹,

Comanescu²

2017

Neonat Pediatr Med

View full text Add to dashboard Cite

“…Demonstrated in another previous study, chromosomal abnormalities were found to be related to posterior fossa malformations at 11-14 weeks' gestation [10]. Other studies had demonstrated that the posterior fossa BSOB diameter and the anteroposterior diameter of the fourth ventricle of the trisomy 18, trisomy 13, and triploid fetuses were significantly longer than the normal fetuses [11]. It was also reported that the BS diameter and BS/BSOB ratio were decreased in axial view of the trisomy 18 and trisomy 13 [21].…”

Section: Discussionmentioning

confidence: 90%

“…In addition to the intracranial translucency, the brainstem (BS) diameter and the brain stem to occipital bone (BSOB) distance can be measured, and the BS/BSOB ratio calculated [8]. It was shown that changes in the BS/BSOB ratio can be found not only in fetuses with open spina bifida but also in fetuses with some chromosomal anomalies detected at the 11-13 weeks [9,10,11] scan.…”

Section: Introductionmentioning

confidence: 99%

The BS/BSOB Ratio in Aneuploidy Fetuses at 11-13 Weeks Gestation

et al. 2015

View full text Add to dashboard Cite

Objective: The posterior fossa of normal fetuses was evaluated and compared with those having chromosomal abnormalities at 11-13+6 weeks' gestation in Chinese population. Methods: In 518 normal fetuses referred to first trimester screening, fetal brain stem (BS) and brain stem to occipital bone distance (BSOB) were measured prospectively. The BS and BSOB were also measured on stored images in fetuses with confirmed trisomy 21 (n = 38), Trisomy 18 (n = 26), Trisomy 13 (n = 8), and monosomy X (n = 8). Results: The BS diameter and BSOB distance correlated linearly with fetal crown-rump length (CRL) by regression analysis. The BS to BSOB ratio was below the 5th percentile in 2 (5.26%), 11 (44%), 4 (50%) and 4 (50%) fetuses with trisomy 21, trisomy 18, trisomy 13 and monosomy X, respectively. Thus, both BS and BS/BSOB ratio were significantly lower in trisomy 18, trisomy 13 and monosomy X fetuses when compared to the reference range but not in fetuses with Trisomy 21. Conclusion: In ultrasound scans performed at the 11-13⁺⁶ gestation weeks, fetuses with trisomy 18, 13, and monosomy X had lower BS/BSOB ratios. But trisomy 21 fetuses did not show significant differences in posterior fossa compared to the normal population.

show abstract

“…Particularly, in several cases, significantly enriched gene sets represent processes that seem very likely to be affected in trisomy 18, but direct research would be needed to confirm them. For example, neural tube defects including spina bifida are common in patients with trisomy 18 [46,47]. Thus, while no current research directly links trisomy 18 explicitly with changes in Spinal cord dorsal/ventral patterning (a term that appeared significant with DFLAT), future studies could likely confirm this connection.…”

Section: Utility and Discussionmentioning

confidence: 96%

DFLAT: functional annotation for human development

et al. 2014

View full text Add to dashboard Cite

BackgroundRecent increases in genomic studies of the developing human fetus and neonate have led to a need for widespread characterization of the functional roles of genes at different developmental stages. The Gene Ontology (GO), a valuable and widely-used resource for characterizing gene function, offers perhaps the most suitable functional annotation system for this purpose. However, due in part to the difficulty of studying molecular genetic effects in humans, even the current collection of comprehensive GO annotations for human genes and gene products often lacks adequate developmental context for scientists wishing to study gene function in the human fetus.DescriptionThe Developmental FunctionaL Annotation at Tufts (DFLAT) project aims to improve the quality of analyses of fetal gene expression and regulation by curating human fetal gene functions using both manual and semi-automated GO procedures. Eligible annotations are then contributed to the GO database and included in GO releases of human data. DFLAT has produced a considerable body of functional annotation that we demonstrate provides valuable information about developmental genomics. A collection of gene sets (genes implicated in the same function or biological process), made by combining existing GO annotations with the 13,344 new DFLAT annotations, is available for use in novel analyses. Gene set analyses of expression in several data sets, including amniotic fluid RNA from fetuses with trisomies 21 and 18, umbilical cord blood, and blood from newborns with bronchopulmonary dysplasia, were conducted both with and without the DFLAT annotation.ConclusionsFunctional analysis of expression data using the DFLAT annotation increases the number of implicated gene sets, reflecting the DFLAT’s improved representation of current knowledge. Blinded literature review supports the validity of newly significant findings obtained with the DFLAT annotations. Newly implicated significant gene sets also suggest specific hypotheses for future research. Overall, the DFLAT project contributes new functional annotation and gene sets likely to enhance our ability to interpret genomic studies of human fetal and neonatal development.

show abstract

Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation

Abstract: At 11 to 13 weeks' gestation many fetuses with trisomy 18, trisomy 13 and triploidy have measurable abnormalities in the posterior brain.

Cited by 23 publications

References 25 publications

CNS Abnormalities at 11-14 Weeks

CNS Abnormalities at 11-14 Weeks

The BS/BSOB Ratio in Aneuploidy Fetuses at 11-13 Weeks Gestation

DFLAT: functional annotation for human development

Contact Info

Product

Resources

About