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Prenatal Genetic Diagnosis by Genomic Sequencing

2019-05-07 17:42:46 | BioPortfolio

Summary

This study is evaluating the impact of prenatal sequencing on the management of fetuses with ultrasound abnormalities. The hypothesis is that a significant subset of fetal abnormalities have a genetic cause that can be identified by sequencing and that prenatal knowledge of this information will improve prenatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve the quality of life for both the child and the family.

Description

Whole exome and whole genome sequencing (WGS) have expanded the ability to determine the genetic etiology of previously undiagnosed disorders. This study is a multicenter prospective cohort study to evaluate the emerging technology of sequencing for the management of fetuses with structural anomalies. The hypothesis is that a significant subset of fetal structural anomalies has a genetic etiology identifiable by sequencing and that prenatal knowledge of this information will improve perinatal care, reduce unnecessary diagnostic testing, reduce the cost of care, and improve quality of life for both the child and the family. The aims of this study are to investigate these multiple aspects of prenatal sequencing in a single study with an innovative integrated prospective design, which will permit a robust evaluation of the benefits and risks of delivering diagnostic and prognostic genetic testing results in a prenatal setting.

The study will determine, in a sequential population of pregnancies with selected fetal structural anomalies and a negative or non-causal chromosomal microarray (CMA), the frequency of pathogenic, likely pathogenic, and uncertain genomic variants identifiable by sequencing. To determine the impact of this information on clinical care, a control population of unsequenced pregnancies with similar structural anomalies will be prospectively recruited and the infants from both cohorts will be followed up to 1 year of age. This study component will evaluate differences in healthcare management and cost through discharge from hospital post-delivery, and perinatal and infant outcomes through 1 year of life. The educational, counseling and psychosocial impact of sequencing results during the prenatal period, in the nursery and through 1 year of life also will be evaluated. Since the analytical and clinical tools needed for the full translation of sequencing into care are still developing, optimization of bioinformatic tools to improve identification of pathogenic and likely pathogenic mutations associated with prenatal phenotypes of established disease genes will be investigated, as well as identification of new genes associated with presently undiagnosed fetal/neonatal phenotypes. This study will provide an in-depth evaluation of the prenatal diagnostic value of sequencing prior to its responsible introduction into practice and will provide independent data to guide its translation.

Study Design

Conditions

Fetal Structural Anomalies

Intervention

Prenatal Genomic Sequencing

Status

Not yet recruiting

Source

Columbia University

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-05-07T17:42:46-0400

Clinical Trials [1101 Associated Clinical Trials listed on BioPortfolio]

Clinical Utility of Prenatal Whole Exome Sequencing

The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.

Comparison of Karyotyping, CMA and NIPT for Prenatal Diagnosing Chromosomal Anomalies

This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study c...

Development of an Optimal Approach to Return of Results for Families Undergoing Next-generation Sequencing for Prenatal Diagnosis

To gain knowledge about how patients undergoing prenatal diagnosis for a fetal abnormality understand and react to Whole Genome Sequencing (WGS) testing, so that the investigators can deve...

PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

This project aims to provide high- quality evidence to inform decisions by health care organisations about using first-tier non-invasive prenatal screening (NIPS) to replace traditional sc...

Use of 3D/4D Ultrasound in the Evaluation of Fetal Anomalies

The usage of 3D/4D in additional to 2DUS can improve the assessment of structural anomalies at early gestation (11 to 14 weeks gestation), improve in the prediction of birth weight, decrea...

PubMed Articles [11829 Associated PubMed Articles listed on BioPortfolio]

Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.

 We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a ...

Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.

 We report a case of two consecutive pregnancies in the same couple presenting with very low pregnancy-associated plasma protein A (PAPP-A), with both pregnancies affected by multiple anomalies of a ...

Fetal Phenotypes Emerge as Genetic Technologies Become Robust.

Prenatal genomic evaluation of the fetus is available at decreasing cost and with a faster turnaround time. However, fetal genotype-phenotype correlations are in their infancy. By comparison, pediatri...

Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencing.

Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analyti...

Impact of introduction of non-invasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.

To evaluate the impact of introduction of non-invasive prenatal testing (NIPT) on the uptake of invasive testing in pregnancies complicated by fetal central nervous system (CNS) anomalies.

Medical and Biotech [MESH] Definitions

Prenatal interventions to correct fetal anomalies or treat FETAL DISEASES in utero. Fetal therapies include several major areas, such as open surgery; FETOSCOPY; pharmacological therapy; INTRAUTERINE TRANSFUSION; STEM CELL TRANSPLANTATION; and GENE THERAPY.

Contiguous large-scale (1000-400,000 basepairs) differences in the genomic DNA between individuals, due to SEQUENCE DELETION; SEQUENCE INSERTION; or SEQUENCE INVERSION.

A clear, yellowish liquid that envelopes the FETUS inside the sac of AMNION. In the first trimester, it is likely a transudate of maternal or fetal plasma. In the second trimester, amniotic fluid derives primarily from fetal lung and kidney. Cells or substances in this fluid can be removed for prenatal diagnostic tests (AMNIOCENTESIS).

Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae.

A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup.

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