Increased nuchal translucency after low risk noninvasive prenatal testing: What should we tell the prospective parents?

2021 ◽  
Author(s):  
Joanne Kelley ◽  
George McGillivray ◽  
Simon Meagher ◽  
Lisa Hui
Keyword(s):  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Low Risk ◽  
Noninvasive Prenatal Testing ◽  
Increased Nuchal Translucency ◽  
Prospective Parents

scholarly journals Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell‐free DNA

2019 ◽  
Vol 145 (3) ◽  
pp. 319-323 ◽  
Author(s):  
Iris Holzer ◽  
Peter W. Husslein ◽  
Dieter Bettelheim ◽  
Julia Scheidl ◽  
Herbert Kiss ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Increased Nuchal Translucency

scholarly journals Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

2019 ◽  
Vol 7 (3) ◽  
pp. 40 ◽  
Author(s):  
Rita Cicatiello ◽  
Piero Pignataro ◽  
Antonella Izzo ◽  
Nunzia Mollo ◽  
Lucia Pezone ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chromosomal Rearrangements ◽  
Prenatal Testing ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosomal Anomalies ◽  
Increased Nuchal Translucency

We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.

Use of the Combined First-Trimester Screen in High- and Low-Risk Patient Populations After Introduction of Noninvasive Prenatal Testing

2015 ◽  
Vol 34 (8) ◽  
pp. 1423-1428 ◽  
Author(s):  
Sebastian Larion ◽  
Steven L. Warsof ◽  
Letty Romary ◽  
Margaret Mlynarczyk ◽  
David Peleg ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
First Trimester ◽  
Low Risk ◽  
Risk Patient ◽  
Noninvasive Prenatal Testing

Increased nuchal translucency and congenital heart defects in a low-risk population

2003 ◽  
Vol 23 (12) ◽  
pp. 985-989 ◽  
Author(s):  
E. Hafner ◽  
T. Schuller ◽  
M. Metzenbauer ◽  
K. Schuchter ◽  
K. Philipp
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Nuchal Translucency ◽  
Low Risk ◽  
Risk Population ◽  
Increased Nuchal Translucency

869: Combined first trimester screen use in high and low risk patient populations after noninvasive prenatal testing introduction

2015 ◽  
Vol 212 (1) ◽  
pp. S415
Author(s):  
Sebastian Larion ◽  
Steven Warsof ◽  
Letty Romary ◽  
Malgorzata Mlynarczyk ◽  
David Peleg ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
First Trimester ◽  
Low Risk ◽  
Risk Patient ◽  
Noninvasive Prenatal Testing ◽  
Screen Use

scholarly journals A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Ganye Zhao ◽  
Peng Dai ◽  
Shanshan Gao ◽  
Xuechao Zhao ◽  
Conghui Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
De Novo ◽  
Prenatal Testing ◽  
Nuchal Translucency ◽  
Deletion Syndrome ◽  
Chromosome 18 ◽  
Partial Monosomy ◽  
Noninvasive Prenatal Testing ◽  
First Case ◽  
Case Presentations

Abstract Background Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, the segmental deletions and duplications should also be concerned. Except that some cases had increased nuchal translucency or holoprosencephaly, most of the fetal phenotype of 18p deletion syndrome may not be evident during the pregnancy, 18p deletion syndrome was always accidentally discovered during the prenatal examination. Case presentations In our case, we found a pure partial monosomy 18p deletion during the confirmation of the result of NIPT by copy number variation sequencing (CNV-Seq). The result of NIPT suggested that there was a partial or complete deletion of X chromosome. The amniotic fluid karyotype was normal, but result of CNV-Seq indicated a 7.56 Mb deletion on the short arm of chromosome 18 but not in the couple, which means the deletion was de novo deletion. Finally, the parents chose to terminate the pregnancy. Conclusions To our knowledge, this is the first case of prenatal diagnosis of 18p deletion syndrome following NIPT.NIPT combined with ultrasound may be a relatively efficient method to screen chromosome microdeletions especially for the 18p deletion syndrome.

scholarly journals Noninvasive Prenatal Testing for Fetal Aneuploidy

2013 ◽  
Vol 7 (4) ◽  
pp. 443-452 ◽  
Author(s):  
Mónica Echevarria ◽  
Carmen Comas ◽  
Bernat Serra ◽  
MaAngeles Rodríguez
Keyword(s):  
Screening Test ◽  
Trisomy 21 ◽  
Prenatal Testing ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Molecular Techniques ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidy ◽  
Wide Range ◽  
Aneuploidy Testing

ABSTRACT After decades of research with a wide range of putative methodologies, at last a commercially viable technique has emerged for the noninvasive prenatal testing (NIPT) for the most common fetal aneuploidies, the massively parallel shotgun sequencing (MPSS). Recently, a number of groups have validated this technology to accurately detect most common trisomies as early as the 10th week of pregnancy with results available 1 to 2 weeks after maternal sampling. Several molecular techniques have been proposed for the detection of trisomies 21, 18 and 13, mainly by two different approaches in analyzing the cell-free fetal (cff) DNA: quantitative and singlenucleotide polymorphism (SNP)-based methods. Among them and to address some of the limitations of counting techniques, a new method called NATUS algorithm (Next-generation Aneuploidy Testing Using SNPs) has been recently introduced. This approach, as a targeted and noncounting technique, offers numerous advantages, although more evidence is needed from large prospective studies. Published studies have demonstrated that diagnostic parameters of NIPT are better than those of the current first trimester prenatal screening risk assessment for fetal trisomy 21. NIPT of trisomy 21 by MPS with or without preselection of chromosomes is promising and likely to replace the prenatal serum screening test that is currently combined with nuchal translucency measurement in the first trimester of pregnancy. However, before NIPT can be introduced as a screening test, more evidence is needed from large prospective diagnostic accuracy studies in first trimester pregnancies. How to cite this article Gabriel CC, Echevarria M, Rodríguez M, Serra B. Noninvasive Prenatal Testing for Fetal Aneuploidy. Donald School J Ultrasound Obstet Gynecol 2013;7(4):443-452.

Parenting the Child With Down Syndrome: Understanding—but Going Beyond—the “Down Syndrome Advantage”

2020 ◽  
Author(s):  
Robert M. Hodapp ◽  
Ellen G. Casale
Keyword(s):  
Socioeconomic Status ◽  
Down Syndrome ◽  
Behavior Problems ◽  
Prenatal Testing ◽  
Children With Autism ◽  
Facial Features ◽  
Cultural Resources ◽  
Noninvasive Prenatal Testing ◽  
Birth Parents ◽  
Children With Down Syndrome

Compared to parents of children with other types of intellectual disabilities, parents of children with Down syndrome experience less stress and more rewards, although this “Down syndrome advantage” mostly occurs compared to parents of children with autism and before groups are equated. Behaviorally, children with Down syndrome display more sociable interactional styles and baby-faced facial features, along with fewer instances of severe behavior problems. Demographically, parents of children with (versus without) Down syndrome average 5 years older when giving birth; parents are more often well educated, married, of higher socioeconomic status, and they likely provide these children greater financial and cultural resources. In most industrialized societies, rates of Down syndrome seem steady, with easily available, noninvasive prenatal testing counteracted by increasing numbers of women giving birth at older ages. Parenting children with Down syndrome relates to characteristics of children, their parents, and society, all of which intersect in important, underexplored ways.

Jacobsen Syndrome Detected by Noninvasive Prenatal Testing

2015 ◽  
Vol 125 (2) ◽  
pp. 387-389 ◽  
Author(s):  
Jamie O. Lo ◽  
Cori D. Feist ◽  
Jason Hashima ◽  
Brian L. Shaffer
Keyword(s):  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Jacobsen Syndrome
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