The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings

AbstractObjective:To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings.Design:Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings.Results:All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001).Conclusions:Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

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Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

Medical Sciences ◽

10.3390/medsci7030040 ◽

2019 ◽

Vol 7 (3) ◽

pp. 40 ◽

Cited By ~ 1

Author(s):

Rita Cicatiello ◽

Piero Pignataro ◽

Antonella Izzo ◽

Nunzia Mollo ◽

Lucia Pezone ◽

...

Keyword(s):

Microarray Analysis ◽

Chromosomal Rearrangements ◽

Prenatal Testing ◽

Normal Karyotype ◽

Nuchal Translucency ◽

Cystic Hygroma ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Chromosomal Anomalies ◽

Increased Nuchal Translucency

We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.

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Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.811 ◽

2019 ◽

Vol 7 (8) ◽

Cited By ~ 1

Author(s):

Linjuan Su ◽

Hailong Huang ◽

Gang An ◽

Meiying Cai ◽

Xiaoqing Wu ◽

...

Keyword(s):

Clinical Application ◽

Microarray Analysis ◽

Normal Karyotype ◽

Nuchal Translucency ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Increased Nuchal Translucency

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575: Routine testing for copy number variants (CNVs) by chromosomal microarray analysis in patients with a normal karyotype: a single center's 20 month experience

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2012.10.741 ◽

2013 ◽

Vol 208 (1) ◽

pp. S246

Author(s):

Eran Bornstein ◽

Sau Cheung ◽

Kristen Maliszewski ◽

Arthur Beaudet ◽

Flavia Theil ◽

...

Keyword(s):

Microarray Analysis ◽

Copy Number ◽

Copy Number Variants ◽

Normal Karyotype ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Routine Testing

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The role of fetal chromosomal aberrations in the genesis of recurrent and sporadic miscarriage

Voprosy ginekologii akušerstva i perinatologii ◽

10.20953/1726-1678-2021-1-34-39 ◽

2021 ◽

Vol 20 (1) ◽

pp. 34-39

Author(s):

E.V.Kudryavtseva E.V.Kudryavtseva ◽

◽

V.V.Kovalev V.V.Kovalev ◽

I.I.Baranov I.I.Baranov ◽

I.V.Kanivets I.V.Kanivets ◽

...

Keyword(s):

Genetic Analysis ◽

Microarray Analysis ◽

Pregnancy Loss ◽

Chromosomal Abnormalities ◽

Recurrent Miscarriage ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Key Words Pregnancy ◽

History Of

Objective. To compare the frequency and nature of embryo/fetus chromosomal abnormalities (CA) in sporadic and recurrent pregnancy loss. Patients and methods. A retrospective cohort study that included 1000 patients with pregnancy loss at 6–12 weeks of gestation. The first group consisted of 681 patients who had their first sporadic miscarriage. The second group consisted of 319 patients who previously had a miscarriage. Chromosomal microarray analysis (CMA) of abortive material was performed. Results. In the first group, various chromosomal abnormalities in the embryo/fetus were detected in 378 (55.5%) samples, in the second group – in 203 (63.5%). The incidence of CA in patients with a history of miscarriage was higher than in sporadic miscarriage, the differences were statistically reliable (p = 0.015). No significant differences were found in the structure of CA. Autosomal trisomies and numerical abnormalities of sex chromosomes were most frequently detected. Conclusion. Chromosomal abnormalities in the embryo are a significant cause of miscarriage, both sporadic and recurrent. Genetic analysis of abortive material is an important component of the examination for choosing further management tactics for patients. CMA is an effective research method when conducting genetic analysis of conception products. Key words: pregnancy loss, preconception planning, recurrent miscarriage, chromosomal abnormalities, chromosomal microarray analysis

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