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K H Nicolaides - One of the best experts on this subject based on the ideXlab platform.

  • impact of holoprosencephaly exomphalos megacystis and increased nuchal translucency on first trimester screening for Chromosomal Abnormalities
    Ultrasound in Obstetrics & Gynecology, 2017
    Co-Authors: Argyro Syngelaki, Leonardo Guerra, Irene Ceccacci, Tunay Efeturk, K H Nicolaides
    Abstract:

    Objective To examine the prevalence of alobal holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥3.5 mm, the incidence and types of associated Chromosomal Abnormalities and the overall impact on the rate of invasive testing and performance of screening for Chromosomal Abnormalities of offering invasive testing for these four fetal conditions. Methods Prospective screening study for trisomies 21, 18 and 13 by the first-trimester combined test in three maternity units in England. Results In the study population of 108,982 cases there were 870 (0.8%) with abnormal karyotype including 654 (75.2%) with trisomies 21, 18 or 13 and 216 (24.8%) with other Chromosomal Abnormalities. The prevalence of alobal holoprosencephaly, exomphalos, megacystis and NT ≥3.5 mm was 1 in 2,945, 1 in 419, 1 in 1,345 and 1 in 119, respectively. Chromosomal Abnormalities were observed in 78.4% of cases of holoprosencephaly, 40.8% of exomphalos, 18.5% of megacystis and 48.5% of those with NT ≥3.5 mm. The most common Chromosomal abnormality was trisomy 13 for holoprosencephaly, trisomy 18 for exomphalos and megacystis and trisomy 21 for high NT. Fetal karyotyping for major fetal defects or high NT would potentially detect 57% of all Chromosomal Abnormalities at an invasive testing rate of 1.1%. Conclusions Major fetal defects and high NT at 11–13 weeks’ gestation are associated with a high risk of Chromosomal Abnormalities and merit invasive fetal testing.

  • replacing the combined test by cell free dna testing in screening for trisomies 21 18 and 13 impact on the diagnosis of other Chromosomal Abnormalities
    Fetal Diagnosis and Therapy, 2014
    Co-Authors: Argyro Syngelaki, Eugene Pergament, Tessa Homfray, Ranjit Akolekar, K H Nicolaides
    Abstract:

    Objective: To estimate the proportion of other Chromosomal Abnormalities that could be missed if combined testing was replaced by cell-free (cf) DNA testing as the method of screening for trisomies 21, 18 and 13. Methods: The prevalence of trisomies 21, 18 or 13, sex chromosome aneuploidies, triploidy and other Chromosomal Abnormalities was examined in pregnancies undergoing first-trimester combined screening and chorionic villus sampling (CVS). Results: In 1,831 clinically significant Chromosomal Abnormalities in pregnancies with combined risk for trisomies 21, 18 and 13 ≥ 1: 100, the contribution of trisomies 21, 18 or 13, sex chromosome aneuploidies, triploidy and other Chromosomal Abnormalities at high risk of adverse outcome was 82.9, 8.2, 3.9 and 5.0%, respectively. Combined screening followed by CVS for risk ≥ 1: 10 and cfDNA testing for risk 1: 11–1: 2,500 could detect 97% of trisomy 21 and 98% of trisomies 18 and 13. Additionally, 86% of monosomy X, half of 47,XXY, 47,XYY or 47,XXX, half of other Chromosomal Abnormalities and one

  • first trimester screening for Chromosomal Abnormalities
    Seminars in Perinatology, 2005
    Co-Authors: K H Nicolaides
    Abstract:

    There is extensive evidence that effective screening for major Chromosomal Abnormalities can be provided in the first trimester of pregnancy. Randomized studies have established that the risk of miscarriage from chorionic villus sampling in the first trimester is the same as for amniocentesis in the second trimester. Prospective studies have demonstrated that screening by a combination of fetal nuchal translucency (NT) and maternal serum free-β-human chorionic gonadotropin (hCG) and pregnancy-associated plasma protein-A (PAPP-A) can identify 90% of fetuses with trisomy 21 and other major Chromosomal Abnormalities for a false-positive rate of 5%. This is superior to the 30% detection rate achieved by maternal age and 65% by second-trimester maternal serum biochemistry. A further improvement in the effectiveness of first-trimester screening is likely to be achieved by a risk-orientated two-stage approach. In this, the patients are subdivided into a high-risk group, requiring invasive testing, a low-risk group, which can be reassured that an abnormality is unlikely, and an intermediate-risk group (risk of 1 in 101 to 1 in 1000), in which further assessment is performed by first-trimester ultrasound examination (for presence/absence of the nasal bone or presence/absence of tricuspid regurgitation or normal/abnormal Doppler velocity waveform in the ductus venosus), and chorionic villus sampling is performed if their adjusted risk becomes 1 in 100 or more. As with all aspects of good clinical practice, those performing first-trimester scans should be appropriately trained and their results subjected to external quality assurance. This process was well established by the Fetal Medical Foundation several years ago and is widely accepted internationally.

  • fetal gastro intestinal and abdominal wall defects associated malformations and Chromosomal Abnormalities
    Fetal Diagnosis and Therapy, 1992
    Co-Authors: K H Nicolaides, Rjm Snijders, H H Cheng, C.m. Gosden
    Abstract:

    During an 8-year period (1983–1991), blood karyotyping was performed in 235 fetuses with abdominal wall or gastrointestinal tract defects. The overall incidence of Chromosomal Abnormalities was 29% (t

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.

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.

Na Lin - 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.

Nan Guo - 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.