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Session

Poster Presentations
Prenatal, Perinatal, and Developmental Genetics Poster Session II

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Conv Ctr/Exhibit & Poster Hall AB

Session 085

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Authors listed in this session will be presenting at their posters during this time, however, posters will remain available for viewing at all times the Exhibit & Poster Hall is open.

A longitudinal study on the maternal blood transcriptome during the early phase of onset of labor [Board No. PB2052]

A novel basic carrier test for all ethnicities using long read sequencing and an artificial intelligence platform. [Board No. PB2055]

Application of single-cell multiomics technology to establish an effective screening method for identifying fetal nucleated red blood cells suitable for non-invasive prenatal genetic testing. [Board No. PB2058]

Cell-type specific methylome-wide significant associations for adverse neonatal outcomes detected in blood. [Board No. PB2061]

Correlation between maternal copy number variations and preterm birth in Indian women: A pilot study [Board No. PB2064]

Early commitment to neuroectoderm is reduced in Down Syndrome iPSCs due to dysregulation of a Primary Cilium-Autophagy-Nrf2 (PAN) axis [Board No. PB2067]

Establishment of Nepal's first Non-Invasive Prenatal Testing (NIPT) Service Laboratory [Board No. PB2070]

Genetic determinants of spontaneous preterm birth in Indian women: Transethnic and population specific markers. [Board No. PB2073]

Genotype - phenotype identification in a case of genetically described (5p inversion deletion and duplication syndrome) developmental epileptic encephalopathy. [Board No. PB2076]

Illuminating Prenatal Diagnosis: Enhancing Clinical Relevant Variant Interpretation via Transcriptome Analysis in Amniotic Fluid Cells. [Board No. PB2079]

Making a human specific model: Maternal Immune Activation and Neuroinflammation. [Board No. PB2082]

Non-immune hydrops fetalis is associated with autosomal recessive variants in the MYB Binding Protein 1a (MYBBP1A) gene [Board No. PB2085]

Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis [Board No. PB2088]

High-Resolution and Non-Invasive Prenatal Exome Screening [Board No. PB2091]

Products of Conception analysis by chromosomal microarray: a single center experience. [Board No. PB2097]

Recurrent spontaneous abortion related to balanced translocation of chromosomes - A case report [Board No. PB2100]

Sex differences in placental gene expression in hypertensive versus normotensive pregnancies [Board No. PB2103]

SPEN deficiency contributes to the development of cleft palate in humans and mice [Board No. PB2106]

Temporal changes in gene expression and chromatin accessibility in the mouse gut identify candidate postnatal modifiers of Hirschsprung disease (HSCR) [Board No. PB2109]

Transcriptome profiling during early postnatal development in humans [Board No. PB2112]

Uncovering human specific gene regulatory elements in heart organogenesis by integrating primary tissues and organoid model [Board No. PB2115]

Validation of low-pass genome sequencing as a replacement for chromosomal microarray in prenatal diagnostics [Board No. PB2118]

Whole exome sequencing in fetuses with abnormal ultrasound finding. [Board No. PB2121]

Whole genome sequencing to better understand the clinical heterogeneity of SHANK3-related PMS patient. [Board No. PB2124]