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 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.

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

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.

The secrets of placental mosaicism: clinical observation of the full form of confined placental trisomy 22 and literature review

2020 ◽  
Author(s):  
I.V. Komarova, A.A. Nikiforenko, A.V. Fedunyak
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Fetal Growth ◽  
Fetal Growth Restriction ◽  
Clinical Observation ◽  
Growth Restriction ◽  
Favorable Outcome ◽  
Full Form ◽  
Placental Mosaicism ◽  
In Pregnancy

Literature reports of placental mosaicism, including trisomy 22, were analyzed. The chance of correlation of placental aneuploidy with fetus aneuploidy, also the probability of complications in pregnancy and fetal growth restriction and postnatal patients growth in the cases of confined placental mosaicism, were demonstrated. The case of prenatal diagnosis of confined placental mosaicism of trisomy 22 with favorable outcome is presented. The necessity of cytogenic assay of amniocytes and fetal lymphocytes in the case of placental heteroploidy diagnosis was emphasized.

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