Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray‐based analysis

Mademont-Soler, Irene; Morales, Carme; Soler, Anna; Martinez‐Crespo, J. M.; Shen, Yao; Margarit, Ester; Clusellas, Núria; Obón, María; Wu, Bai Lin; Sánchez, Aurora

doi:10.1002/uog.12372

Cited by 66 publications

(67 citation statements)

References 48 publications

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“…It is known that abnormal prenatal ultrasound scans are associated with a high rate of chromosomal abnormality,26 and in our study, an abnormal ultrasound scan was one of the most reliable indications for identifying an SCA. This is consistent with other studies that have demonstrated high rates of chromosomal abnormalities in pregnancies with abnormal ultrasound scans27 and may be a sign of technological improvements in medical imaging. Improvements in ultrasound scanning may also be reflected in the termination rates found in this study; of those pregnancies that resulted in termination, 83% had an abnormal antenatal ultrasound scan.…”

Section: Discussionsupporting

confidence: 91%

The outcome of prenatal identification of sex chromosome abnormalities

Lucas‐Herald

Cann

Crawford

et al. 2016

Arch Dis Child Fetal Neonatal Ed

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Section: Discussionsupporting

confidence: 91%

The outcome of prenatal identification of sex chromosome abnormalities

Lucas‐Herald

Cann

Crawford

et al. 2016

Arch Dis Child Fetal Neonatal Ed

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“…The detection rate for potentially causal CNVs was 25% (with 1 Mb resolution). In 2013, Mademont-Soler et al [22] reported that 6.4% of fetuses with CHDs had 22q11.2 deletion syndrome. However, when this microdeletion syndrome and abnormal karyotype were excluded, the detection rate of pathogenic CNVs was 2.0% in fetuses with a CHD and no detectable VOUS.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of DNA Copy Number Variations by Genomic Single-Nucleotide Polymorphism Array in Fetuses with Congenital Heart Defects

Tang

Chen

et al. 2015

Fetal Diagn Ther

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Objectives: To evaluate the usefulness of single-nucleotide polymorphism (SNP) array for prenatal genetic diagnosis of congenital heart defect (CHD), we used this approach to detect clinically significant copy number variants (CNVs) in fetuses with CHDs. Methods: A HumanCytoSNP-12 array was used to detect genomic samples obtained from 39 fetuses that exhibited cardiovascular abnormalities on ultrasound and had a normal karyotype. The relationship between CNVs and CHDs was identified by using genotype-phenotype comparisons and searching of chromosomal databases. All clinically significant CNVs were confirmed by real-time PCR. Results: CNVs were detected in 38/39 (97.4%) fetuses: variants of unknown significance were detected in 2/39 (5.1%), and clinically significant CNVs were identified in 7/39 (17.9%). In 3 of the 7 fetuses with clinically significant CNVs, 3 rare and previously undescribed CNVs were detected, and these CNVs encompassed the CHD candidate genes FLNA (Xq28 dup), BCOR (Xp11.4 dup), and RBL2 (16q12.2 del). Conclusion: Compared with conventional cytogenetic genomics, SNP array analysis provides significantly improved detection of submicroscopic genomic aberrations in pregnancies with CHDs. Based on these results, we propose that genomic SNP array is an effective method which could be used in the prenatal diagnostic test to assist genetic counseling for pregnancies with CHDs.

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“…• Over 35 years of maternal age [4] • Identified or assumed family history of genetic disease [5] • Ethnicity at high risk for genetic disease [6,7,8] • Multiple pregnancy losses [9] • Teratogen [10] • Alterations of standard ultrasound findings [11,12] • Unusual maternal serum screen results [13,14].…”

Section: Indications Of Prenatal Diagnosismentioning

confidence: 99%