Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease

2018 ◽  
Vol 38 (6) ◽  
pp. 406-413 ◽  
Author(s):  
Yu Xia ◽  
Yongchao Yang ◽  
Shufang Huang ◽  
Yueheng Wu ◽  
Ping Li ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Clinical Application ◽  
Copy Number ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

scholarly journals Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations

2021 ◽  
Vol 12 ◽  
Author(s):  
Jing Wang ◽  
Bin Zhang ◽  
Lingna Zhou ◽  
Qin Zhou ◽  
Yingping Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Copy Number ◽  
Prenatal Screening ◽  
Comprehensive Evaluation ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive ◽  
Pathogenic Cnvs

ObjectiveTo evaluate the effectiveness of non-invasive prenatal screening (NIPS) in prenatal screening of fetal pathogenic copy number variants (CNVs).Materials and MethodsWe evaluated the prenatal screening capacity using traditional and retrospective approaches. For the traditional method, we evaluated 24,613 pregnant women who underwent NIPS; cases which fetal CNVs were suggested underwent prenatal diagnosis with chromosomal microarray analysis (CMA). For the retrospective method, we retrospectively evaluated 47 cases with fetal pathogenic CNVs by NIPS. A systematic literature search was performed to compare the evaluation efficiency.ResultsAmong the 24,613 pregnant women who received NIPS, 124 (0.50%) were suspected to have fetal CNVs. Of these, 66 women underwent prenatal diagnosis with CMA and 13 had true-positive results. The positive predictive value (PPV) of NIPS for fetal CNVs was 19.7%. Among 1,161 women who did not receive NIPS and underwent prenatal diagnosis by CMA, 47 were confirmed to have fetal pathogenic CNVs. Retesting with NIPS indicated that 24 of these 47 cases could also be detected by NIPS, representing a detection rate (DR) of 51.1%. In total, 10 publications, namely, six retrospective studies and four prospective studies, met our criteria and were selected for a detailed full-text review. The reported DRs were 61.10–97.70% and the PPVs were 36.11–80.56%. The sizes of CNVs were closely related to the accuracy of NIPS detection. The DR was 41.9% (13/31) in fetuses with CNVs ≤ 3 Mb, but was 55.0% (11/20) in fetuses with CNVs > 3 Mb. Finally, to intuitively show the CNVs accurately detected by NIPS, we mapped all CNVs to chromosomes according to their location, size, and characteristics. NIPS detected fetal CNVs in 2q13 and 4q35.ConclusionThe DR and PPV of NIPS for fetal CNVs were approximately 51.1% and 19.7%, respectively. Follow-up molecular prenatal diagnosis is recommended in cases where NIPS suggests fetal CNVs.

scholarly journals Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

2011 ◽  
Vol 108 (7) ◽  
pp. 2915-2920 ◽  
Author(s):  
K. A. Fakhro ◽  
M. Choi ◽  
S. M. Ware ◽  
J. W. Belmont ◽  
J. A. Towbin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Unique Genes

scholarly journals Prenatal Detection of Critical Congenital Heart Disease

2016 ◽  
Vol 10 (2) ◽  
pp. 131-135
Author(s):  
Lina W Irshaid ◽  
Najwa Elfky
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Infant Mortality ◽  
Congenital Heart ◽  
Obstet Gynecol ◽  
Chromosomal Abnormalities ◽  
Critical Congenital Heart Disease ◽  
Prenatal Detection ◽  
Associated Malformations

ABSTRACT Congenital heart disease (CHD) is a leading cause of infant mortality and 30% fetuses born with CHDs have other associated malformations and chromosomal abnormalities. Prenatal diagnosis also allows parents to opt for termination of the pregnancy. How to cite this article Irshaid LW, Elfky N, Ahmed B. Prenatal Detection of Critical Congenital Heart Disease. Donald School J Ultrasound Obstet Gynecol 2016;10(2):131-135.

scholarly journals Chromosomal microarray analysis in the investigation of prenatally diagnosed congenital heart disease

2020 ◽  
Vol 2 (1) ◽  
pp. 100078
Author(s):  
Hiba J. Mustafa ◽  
Katherine M. Jacobs ◽  
Katelyn M. Tessier ◽  
Shanti L. Narasimhan ◽  
Alena N. Tofte ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Microarray Analysis ◽  
Congenital Heart ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

2020 ◽  
Vol 24 (1) ◽  
pp. 16-28 ◽  
Author(s):  
Majed J. Dasouki ◽  
Salma M. Wakil ◽  
Olfat Al-Harazi ◽  
Maarab Alkorashy ◽  
Nzioka P. Muiya ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Saudi Arabia ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Complex Congenital Heart Disease ◽  
Genome Wide ◽  
The Impact

scholarly journals A retrospective study of noninvasive prenatal testing for chromosome aneuploidies and subchromosomal copy number variations in 24359 single pregnancies

2020 ◽  
Author(s):  
yuefang Liu ◽  
Longfei Cheng ◽  
Yuan Peng ◽  
Zhe Liang ◽  
Xin Jin ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number ◽  
False Negative ◽  
Prenatal Testing ◽  
Clinical Information ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Abstract Background: With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by non-invasive prenatal testing(NIPT). Our study is aimed to review the efficacy of NIPT as a screening test for aneuploidies and subchromosomal copy number variations (CNVs) in 24359 single pregnancies.Methods: A total of 24359 single pregnancies with different clinical features were retrospectively analyzed. Pathogenicity of abnormal NIPT results were assessed according to American College of Medical Genetics and Genomics(ACMG). Chromosome aneuploidies and subchromosomal CNVs were confirmed by karyotyping and chromosomal microarray analysis(CMA). Results: A total of 442 pregnancies (442/24359,1.9%) were with abnormal NIPT results. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), and sex chromosome aneuploidies (SCAs) was 84.8%, 54.2%, 11.1% an 40.5% respectively. The PPV for subchromosomal CNVs was 59.0% (46/78). The clinical information, prenatal diagnosis results and follow-up results of 46 true positive cases, 6 cases with subchromosomal CNVs inconsistent with NIPT and 1 case of false negative were also demonstrated in detail.Conclusion: Our data have potential significance in demonstrating the significance of NIPT not only for common whole chromosome aneuploidies but also for subchromosomal CNV. Besides, the clinical information, prenatal diagnosis results and follow-up results of 52 cases with subchromosomal CNV and 1 case of false negative would provide important guidance for genetic counseling.

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