The Experts below are selected from a list of 188523 Experts worldwide ranked by ideXlab platform

Hailong Huang - One of the best experts on this subject based on the ideXlab platform.

  • Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers.
    BMC medical genomics, 2021
    Co-Authors: Meiying Cai, Na Lin, Xuemei Chen, Nan Guo, Hailong Huang
    Abstract:

    Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional Karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the Karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional Karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.

  • Evaluation of Chromosomal Abnormalities and Copy Number Variations in Fetuses with Ultrasonic Soft Markers
    2020
    Co-Authors: Meiying Cai, Na Lin, Hailong Huang
    Abstract:

    Abstract Background: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.Methods: Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional Karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Results: Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the Karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups.Conclusions: Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional Karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect obstetrical outcomes.

Daniel Reinharz - One of the best experts on this subject based on the ideXlab platform.

  • Rapid testing versus Karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
    European Journal of Human Genetics, 2011
    Co-Authors: Jean Gekas, David-gradus Van Den Berg, Audrey Durand, Maud Vallée, Hajo Izaäk Johannes Wildschut, Emmanuel Bujold, Jean-claude Forest, François Rousseau, Daniel Reinharz
    Abstract:

    In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus Karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than Karyotyping. In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by Karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with Karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus Karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or Karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down's syndrome (DS) detected). Using Karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of Karyotyping.

  • rapid testing versus Karyotyping in down s syndrome screening cost effectiveness and detection of clinically significant chromosome abnormalities
    European Journal of Human Genetics, 2011
    Co-Authors: Jean Gekas, Audrey Durand, Maud Vallée, Hajo Izaäk Johannes Wildschut, Emmanuel Bujold, Jean-claude Forest, François Rousseau, Davidgradus Van Den Berg, Daniel Reinharz
    Abstract:

    Rapid testing versus Karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

Meiying Cai - One of the best experts on this subject based on the ideXlab platform.

  • Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers.
    BMC medical genomics, 2021
    Co-Authors: Meiying Cai, Na Lin, Xuemei Chen, Nan Guo, Hailong Huang
    Abstract:

    Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional Karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the Karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional Karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.

  • Evaluation of Chromosomal Abnormalities and Copy Number Variations in Fetuses with Ultrasonic Soft Markers
    2020
    Co-Authors: Meiying Cai, Na Lin, Hailong Huang
    Abstract:

    Abstract Background: Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers.Methods: Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional Karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Results: Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the Karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups.Conclusions: Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional Karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect obstetrical outcomes.

Jean Gekas - One of the best experts on this subject based on the ideXlab platform.

  • Rapid testing versus Karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities
    European Journal of Human Genetics, 2011
    Co-Authors: Jean Gekas, David-gradus Van Den Berg, Audrey Durand, Maud Vallée, Hajo Izaäk Johannes Wildschut, Emmanuel Bujold, Jean-claude Forest, François Rousseau, Daniel Reinharz
    Abstract:

    In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus Karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than Karyotyping. In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by Karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with Karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus Karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or Karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down's syndrome (DS) detected). Using Karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of Karyotyping.

  • rapid testing versus Karyotyping in down s syndrome screening cost effectiveness and detection of clinically significant chromosome abnormalities
    European Journal of Human Genetics, 2011
    Co-Authors: Jean Gekas, Audrey Durand, Maud Vallée, Hajo Izaäk Johannes Wildschut, Emmanuel Bujold, Jean-claude Forest, François Rousseau, Davidgradus Van Den Berg, Daniel Reinharz
    Abstract:

    Rapid testing versus Karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

Hiroyuki Aburatani - One of the best experts on this subject based on the ideXlab platform.