Editorial Comment: Fraternal Twins With Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis

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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Faculty Opinions recommendation of Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718040723.793524394 ◽

2016 ◽

Author(s):

Ignatia Van den Veyver

Keyword(s):

Systematic Review ◽

Microarray Analysis ◽

Chromosomal Abnormalities ◽

Meta Analysis ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Additional Information

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Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2021.01.008 ◽

2021 ◽

Vol 60 (2) ◽

pp. 299-304

Author(s):

Xiaomei Luo ◽

Hong Zhu ◽

Lili Wang ◽

Bing Xiao ◽

Yanjie Fan ◽

...

Keyword(s):

Retrospective Study ◽

High Risk ◽

Microarray Analysis ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis

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Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report

Open Medicine ◽

10.1515/med-2020-0199 ◽

2020 ◽

Vol 15 (1) ◽

pp. 1123-1127

Author(s):

Shuang Chen ◽

Yang Yu ◽

Han Zhang ◽

Leilei Li ◽

Yuting Jiang ◽

...

Keyword(s):

Case Report ◽

Microarray Analysis ◽

Prenatal Testing ◽

Chromosomal Microarray ◽

Chromosomal Microarray Analysis ◽

Chromosome 5 ◽

Left Lateral Ventricle ◽

Pulsed Doppler Ultrasound

AbstractChromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.

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