scholarly journals VP28.03: Interest of chromosomal microarray analysis for the exploration of isolated and severe fetal growth restriction diagnosed before 25 weeks of gestation

2021 ◽  
Vol 58 (S1) ◽  
pp. 212-213
Author(s):  
M. Dap ◽  
F. Gicquel ◽  
L. Lambert ◽  
C. Bonnet ◽  
E. Perdriolle‐Galet ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

scholarly journals The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu'e Chen ◽  
Yingjun Xie ◽  
Yuying Jiang ◽  
Qi Luo ◽  
Lijing Shi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Karyotype Analysis ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Background: An increase in pathogenic copy number variants (pCNVs) has been recognized to associate with fetal growth restriction (FGR). Here, we aim to explore the application value of chromosomal microarray analysis (CMA) in prenatal diagnosis of FGR.Methods: Prenatal ultrasound was applied to identify FGR. A total of 149 pregnant women with FGR were enrolled in our study. All subjects underwent karyotype analysis and CMA to reveal the chromosomal abnormalities.Results: In this study, all subjects were successfully detected by karyotype and CMA analyses. Of these subjects, the chromosomal abnormalities detection rate was 5.37% (8/149) for karyotyping and 13.42% (20/149) for CMA, respectively. Among them, an 8.05% (12/149) incremental yield of CMA over karyotype analysis was observed (p = 0.004). In addition, a significant difference of pCNV detection rate was observed between the groups with different high-risk factors (p = 0.005). The FGR with structural anomalies group showed the highest pCNV detection rate (33.33%), followed by the FGR with non-structural anomalies group (8.77%) and the isolated FGR group (8.06%).Conclusion: In conclusion, CMA technology showed an effective application value in etiology diagnosis of FGR. We believe that CMA should be recommended as first-line detection technology for prenatal diagnosis in FGR.

The Yield of Chromosomal Microarray in Pregnancies Complicated with Fetal Growth Restriction Can Be Predicted According to Clinical Parameters

2020 ◽  
pp. 1-9
Author(s):  
Keren Tzadikevitch Geffen ◽  
Amihood Singer ◽  
Idit Maya ◽  
Shay Ben-Shachar ◽  
Lena Sagi-Dain ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Odds Ratio ◽  
Background Risk ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Parameters ◽  
Microarray Analyses

<b><i>Introduction:</i></b> We evaluated the yield of chromosomal microarray analysis in pregnancies complicated with fetal growth restriction (FGR) according to specific clinical parameters. <b><i>Methods:</i></b> The study was based on national records from the Israeli Ministry of Health. Chromosomal microarray analyses of amniocenteses performed nationwide for the indication of FGR, from January 2016 to March 2018, were included. The CMA yield was compared to 2 cohorts that reported the background risk. <b><i>Results:</i></b> Of 174 tests performed for the indication of FGR, there were 11 cases with a pathogenic/likely pathogenic result (6.3%). The yield of CMA was significantly higher in cases with major structural findings (29.4 vs. 3.4%, <i>p</i> = 0.001), compared to isolated FGR but not for minor structural findings (6.1 vs. 3.4%, <i>p</i> = 0.5). The rate of chromosomal aberrations was significantly higher for all cases with FGR, when compared to the background risk of a cohort of normal pregnancies (odds ratio [OR] 4.7, 95% CI 2.5–9 and OR 6.09, 95% CI 3.2–11.4) but not for isolated cases or cases diagnosed after 24 weeks of pregnancy. <b><i>Conclusions:</i></b> Chromosomal microarray analysis should be performed for all pregnancies complicated with FGR diagnosed before 24 weeks and for cases with major structural anomalies.

Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction

2016 ◽  
Vol 36 (7) ◽  
pp. 686-692 ◽  
Author(s):  
Hui Zhu ◽  
Shaobin Lin ◽  
Linhuan Huang ◽  
Zhiming He ◽  
Xuan Huang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Microarray Analysis ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

scholarly journals Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion

2021 ◽  
Vol 12 ◽  
Author(s):  
Jiahao Song ◽  
Qian Zhang ◽  
Bing Lu ◽  
Zhongshan Gou ◽  
Ting Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Fetal Growth ◽  
Coronary Sinus ◽  
Fetal Growth Restriction ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Phenotype Correlation ◽  
Renal Hypoplasia

Background: Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation.Case Report: In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25+4 weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Chromosomal microarray analysis of amniotic fluid from the fetus revealed a 28.025 Mb deletion in 1q23.3q31.2, spanning from position 164,559,675 to 192,584,768 (hg19).Conclusion: Genotype-phenotype correlation might improve prenatal diagnosis of fetuses with chromosome 1q deletion. PBX1 could be a candidate gene for fetal growth restriction, renal hypoplasia and congenital heart disease. Fetal growth restriction was accompanied by decreased renal volume in the fetus. Combined with ultrasonic examination, the application of chromosomal microarray analysis will provide accurate prenatal diagnosis.

scholarly journals Genetic Background of Fetal Growth Restriction

2021 ◽  
Vol 23 (1) ◽  
pp. 36
Author(s):  
Beata Anna Nowakowska ◽  
Katarzyna Pankiewicz ◽  
Urszula Nowacka ◽  
Magdalena Niemiec ◽  
Szymon Kozłowski ◽  
...  
Keyword(s):  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Metabolic Diseases ◽  
Prenatal Testing ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Third Trimester ◽  
Noninvasive Prenatal Testing ◽  
Current State

Fetal growth restriction (FGR) is one of the most formidable challenges in present-day antenatal care. Pathological fetal growth is a well-known factor of not only in utero demise in the third trimester, but also postnatal morbidity and unfavorable developmental outcomes, including long-term sequalae such as metabolic diseases, diabetic mellitus or hypertension. In this review, the authors present the current state of knowledge about the genetic disturbances responsible for FGR diagnosis, divided into fetal, placental and maternal causes (including preeclampsia), as well as their impact on prenatal diagnostics, with particular attention on chromosomal microarray (CMA) and noninvasive prenatal testing technique (NIPT).

scholarly journals Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction

2018 ◽  
Vol 11 (1) ◽  
Author(s):  
Gang An ◽  
Yuan Lin ◽  
Liang Pu Xu ◽  
Hai Long Huang ◽  
Si Ping Liu ◽  
...  
Keyword(s):  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Growth Restriction ◽  
Chromosomal Microarray ◽  
Genetic Causes
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