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Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis.
Ultrasound Obstet Gynecol. 2013 Apr; 41(4):375-82.UO

Abstract

OBJECTIVES

To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies.

METHODS

First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement.

RESULTS

Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced.

CONCLUSIONS

In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies.

Authors+Show Affiliations

Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23233332

Citation

Mademont-Soler, I, et al. "Prenatal Diagnosis of Chromosomal Abnormalities in Fetuses With Abnormal Cardiac Ultrasound Findings: Evaluation of Chromosomal Microarray-based Analysis." Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, vol. 41, no. 4, 2013, pp. 375-82.
Mademont-Soler I, Morales C, Soler A, et al. Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. Ultrasound Obstet Gynecol. 2013;41(4):375-82.
Mademont-Soler, I., Morales, C., Soler, A., Martínez-Crespo, J. M., Shen, Y., Margarit, E., Clusellas, N., Obón, M., Wu, B. L., & Sánchez, A. (2013). Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 41(4), 375-82. https://doi.org/10.1002/uog.12372
Mademont-Soler I, et al. Prenatal Diagnosis of Chromosomal Abnormalities in Fetuses With Abnormal Cardiac Ultrasound Findings: Evaluation of Chromosomal Microarray-based Analysis. Ultrasound Obstet Gynecol. 2013;41(4):375-82. PubMed PMID: 23233332.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. AU - Mademont-Soler,I, AU - Morales,C, AU - Soler,A, AU - Martínez-Crespo,J M, AU - Shen,Y, AU - Margarit,E, AU - Clusellas,N, AU - Obón,M, AU - Wu,B L, AU - Sánchez,A, Y1 - 2013/03/04/ PY - 2012/12/06/accepted PY - 2012/12/13/entrez PY - 2012/12/13/pubmed PY - 2013/9/26/medline SP - 375 EP - 82 JF - Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology JO - Ultrasound Obstet Gynecol VL - 41 IS - 4 N2 - OBJECTIVES: To assess the frequency of karyotype abnormalities and chromosome 22q11.2 deletion syndrome among fetuses with abnormal cardiac ultrasound findings, and to evaluate the clinical value of chromosomal microarray-based analysis (CMA) in the study of such pregnancies. METHODS: First, we carried out retrospective analysis of karyotype abnormalities and 22q11.2 deletion syndrome cases diagnosed between January 2009 and December 2011 in our center among fetuses with abnormal cardiac ultrasound findings (n = 276). Second, CMA was performed in 51 of the fetuses with such findings, normal karyotype and negative or no 22q11.2 deletion syndrome study, and in the only fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement. RESULTS: Out of the 276 pregnancies with abnormal cardiac ultrasound findings, karyotyping revealed a chromosomal abnormality in 44 (15.9%). Of fetuses with normal karyotype in which 22q11.2 deletion syndrome studies were performed, 6.4% (5/78) had this microdeletion syndrome. Among fetuses with abnormal cardiac findings, normal karyotype and negative or no 22q11.2 deletion syndrome study that underwent CMA, the detection rate of pathogenic copy number variants not detected by conventional cytogenetics was 2.0% (1/51), and no variants of uncertain clinical significance were found. In the fetus with a heart defect and an apparently balanced de novo chromosomal rearrangement, CMA revealed that the rearrangement was not truly balanced. CONCLUSIONS: In the assessment of genetic abnormalities in pregnancies with abnormal cardiac ultrasound findings, the diagnostic yield may be increased by 2% if CMA is used as a complementary tool to conventional cytogenetics. Our results suggest that CMA could be a good alternative to karyotyping in these pregnancies. SN - 1469-0705 UR - https://www.unboundmedicine.com/medline/citation/23233332/Prenatal_diagnosis_of_chromosomal_abnormalities_in_fetuses_with_abnormal_cardiac_ultrasound_findings:_evaluation_of_chromosomal_microarray_based_analysis_ L2 - https://doi.org/10.1002/uog.12372 DB - PRIME DP - Unbound Medicine ER -