Cargando…

SAT-068 Bewilderment! Sex Chromosome Non-Invasive Prenatal Screening (NIPS) Results Differ from Phenotype and Postnatal Karyotype

Background NIPS uses cell-free DNA in maternal serum to identify fetal aneuploidies including sex chromosome aneuploidies (SCA).(1) Despite reports of high sensitivity and specificity, NIPS results, phenotype, and postnatal karyotype may be inconsistent. This situation generates parental anxiety and...

Descripción completa

Detalles Bibliográficos
Autores principales:	Perez-Garcia, Eliana Melissa, Shahid, Nabiha, Yatsenko, Svetlana, Schneck, Francis Xavier, Witchel, Selma Feldman
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209311/ http://dx.doi.org/10.1210/jendso/bvaa046.938

Ejemplares similares

Offline: COVID-19—bewilderment and candour
por: Horton, Richard
Publicado: (2020)

Prenatal and postnatal echocardiography in NT fetuses with normal karyotype
por: Emami-Moghaddam, Abdolrahman, et al.
Publicado: (2019)

Divergent series: from Thomas Bayes’s bewilderment to today’s resurgence via the rainbow
por: Prof. Berry, Michael
Publicado: (2014)

SAT-LB068 Involvement of Serum Dehydroepiandrosterone Sulfate in Male Erythropoietic Activity
por: Harada, Ko, et al.
Publicado: (2019)

22q13 Duplication in Newborn With Dysmorphic Features: The Role of SOX10 in Disorders of Sex Development
por: Hammoud, Batoul, et al.
Publicado: (2021)

Longitudinal Health Care for Girls and Women With Turner Syndrome
por: Ghosh, Priyanka, et al.
Publicado: (2021)

Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis
por: Zhang, Yi, et al.
Publicado: (2020)

The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results
por: Xu, Jun, et al.
Publicado: (2020)

The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis
por: Hao, MengZhe, et al.
Publicado: (2020)

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)
por: Strom, Charles M., et al.
Publicado: (2017)

Nip and Snarler
Publicado: (1867)

The Medical Home Concept and Congenital Adrenal Hyperplasia: A Comfortable Habitat!
por: Witchel, Selma Feldman
Publicado: (2010)

Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing
por: Shi, Xiaomei, et al.
Publicado: (2021)

The NIPS '17 competition
por: Escalera, Sergio, et al.
Publicado: (2018)

Combined use of bacterial artificial chromosomes-on-beads with karyotype detection improves prenatal diagnosis
por: Miao, Zhengyou, et al.
Publicado: (2019)

Prenatal diagnosis of fetuses conceived by assisted reproductive technology by karyotyping and chromosomal microarray analysis
por: Guo, Huan, et al.
Publicado: (2023)

Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results
por: Lyu, Zhaoru, et al.
Publicado: (2022)

Is the Karyotype of Neotropical Boid Snakes Really Conserved? Cytotaxonomy, Chromosomal Rearrangements and Karyotype Organization in the Boidae Family
por: Viana, Patrik F., et al.
Publicado: (2016)

Nonclassic Congenital Adrenal Hyperplasia
por: Witchel, Selma Feldman, et al.
Publicado: (2010)

Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism
por: Ma, Na, et al.
Publicado: (2021)

Study on the application value of BACs-on-Beads technology combined with chromosome karyotype analysis in prenatal diagnosis
por: Chen, Lin, et al.
Publicado: (2022)

A guide to NIP theories
por: Simon, Pierre
Publicado: (2015)

Nipping Adipocyte Inflammation in the Bud
por: Griffin, Michael J.
Publicado: (2021)

A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics
por: Yin, Aihua, et al.
Publicado: (2014)

SAT-068 A Precise Prevalence Of Genotypes And Histological Subtypes Of Consecutive JapanesePA CasesUndergoing Surgery From 2012 To 2017
por: Yamazaki, Yuto, et al.
Publicado: (2019)

Prenatal diagnosis of Prader‐Willi syndrome due to uniparental disomy with NIPS: Case report and literature review
por: Shubina, Jekaterina, et al.
Publicado: (2020)

Drug-induced resistance: nipping it in the ‘budding’
por: Goldman, Aaron
Publicado: (2018)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
por: Marinescu, Ponnila S, et al.
Publicado: (2015)

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters
por: Zhu, Yiyang, et al.
Publicado: (2019)

Prenatal and Postnatal Management
Publicado: (1938)

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies
por: Wang, Jin, et al.
Publicado: (2022)

AB068. Practical diagnosis and treatment algorithm for azoospermia
por: Kim, Soo Woong
Publicado: (2015)

Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma
por: Yu, Stephanie C. Y., et al.
Publicado: (2013)

Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls
por: Witchel, Selma Feldman, et al.
Publicado: (2019)

Chromosomal rearrangements and karyotype evolution in carnivores revealed by chromosome painting
por: Nie, W, et al.
Publicado: (2012)

Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures
por: DiNonno, Wendy, et al.
Publicado: (2019)

Epidemiology of fetal cerebral ventriculomegaly and evaluation of chromosomal microarray analysis versus karyotyping for prenatal diagnosis in a Chinese hospital
por: Yi, Jun-Ling, et al.
Publicado: (2019)

Insights into the Selectivity Mechanisms of Grapevine NIP Aquaporins
por: Sabir, Farzana, et al.
Publicado: (2020)

Chromosome Analysis Using Spectral Karyotyping (SKY)
por: Imataka, George, et al.
Publicado: (2011)

Karyotypic polymorphism of the zebra finch Z chromosome
por: Itoh, Yuichiro, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_b4605m6433lv47aj4j6g7coec8