Copy number variations associated with fetal congenital kidney malformations

Cai, Meiying; Lin, Ning; Su, Linjuan; Wu, Xiaoqing; Xie, Xiaorui; Liu, Ying; Lin, Yuan; Huang, Hailong; Xu, Liangpu

doi:10.1186/s13039-020-00481-7

Cited by 9 publications

(9 citation statements)

References 29 publications

(27 reference statements)

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“…In our study, the overall detection rate of VOUSs was 4.47% (17/380), while the detection rate of VOUSs in cases of isolated CAKUTs was 3.47% (11/317), which is consistent with the rate of 3.4% reported by the Euroscan Research Center [9] , and higher than the 2.5% rate found among fetuses with isolated urinary system abnormalities by Cai et al [21] . The detection rates of pathogenic CNVs and VOUSs in different studies are different depending on the severity of the disease in the fetus and whether the parents agree to further testing.…”

Section: Vouss In Cakutssupporting

confidence: 91%

Genetic analysis and pregnancy outcomes of fetuses with kidney and urinary tract anomalies

Yuan

Ding

Peng

et al. 2022

Preprint

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Objective: To explore the genetic basis and pregnancy outcomes of congenital anomalies of the kidney and urinary tract (CAKUTs).Methods: We analyzed the ultrasonographic features, results of prenatal diagnostic tests (chromosomal karyotype analysis, chromosomal microarray analysis [CMA], and whole exome sequencing [WES]), and pregnancy outcomes of fetuses with CAKUTs.Results: The main ultrasonographic features of 1197 CAKUTs were hydronephrosis, multicystic dysplastic kidney, renal agenesis, and duplex kidney. Of 413 fetuses that underwent prenatal genetic tests, 80 (19.37%, 80/413) had clinically significant abnormal results, including 27 fetuses with chromosome abnormalities and 40 with pathogenic copy number variations (CNVs)/variations of uncertain significance (VOUSs). Of the 26 fetuses that underwent WES, 13 (50.00%, 13/26) had pathogenic/likely pathogenic point mutations. The incidence of genetic abnormalities was significantly lower for isolated CAKUTs (11.36%, 36/317) than for CAKUTs with additional anomalies (45.83%, 44/96; p < 0.05). The operation rate among live-born children with CAKUTs was 6.75% (51/755). The anteroposterior diameter (APD) of the renal pelvis in the third trimester could predict the necessity of postnatal surgery, and the sensitivity and specificity of APD ≥ 17.5 mm were 63.2% and 94.7%, respectively.Conclusions: The main geneetic causes of isolated CAKUT were copy number variations (CNVs) and genetic abnormalities. CMA has important value in CAKUT fetuses with normal karyotype and can increase the detection rate by 4%; WES can significantly improve the genetic detection rate of CAKUT fetuses. Fetuses with isolated urinary abnormalities have a good prognosis after birth.

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Section: Vouss In Cakutssupporting

confidence: 91%

Genetic analysis and pregnancy outcomes of fetuses with kidney and urinary tract anomalies

Yuan

Ding

Peng

et al. 2022

Preprint

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“…According to the routine methods established by our center ( Cai et al, 2020 ), cells from the villi, amniotic fluid, or umbilical cord blood samples of the 535 fetuses with CNS abnormalities were cultured, harvested, prepared, and G-banded. The prepared samples were collected and analyzed using the GSL-120 automatic chromosome scanning platform.…”

Section: Methodsmentioning

confidence: 99%

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

Cai

Huang

et al. 2021

Front. Mol. Biosci.

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Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome. 535 fetuses with CNS abnormalities were analyzed using karyotype analysis and SNP array. Among the 535 fetuses with CNS abnormalities, chromosomal abnormalities were detected in 36 (6.7%) of the fetuses, which were consistent with karyotype analysis. Further, additional 41 fetuses with abnormal copy number variations (CNVs) were detected using SNP array (the detection rate of additional abnormal CNVs was 7.7%). The rate of chromosomal abnormalities, but not that of pathogenic CNVs in CNS abnormalities with other ultrasound abnormalities was significantly higher than that in isolated CNS abnormalities. The rates of chromosomal abnormalities and pathogenic CNVs in fetuses with spine malformation (50%), encephalocele (50%), subependymal cyst (20%), and microcephaly (16.7%) were higher than those with other isolated CNS abnormalities. The pregnancies for 36 cases with chromosomal abnormalities, 18 cases with pathogenic CNVs, and three cases with VUS CNVs were terminated. SNP array should be used in the prenatal diagnosis of fetuses with CNS abnormalities, which can enable better prenatal assessment and genetic counseling, and affect obstetrical outcomes.

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“…Methods published previously were applied ( Cai et al, 2020 ). After routine disinfection, 20 ml of amniotic fluid or 2 ml of umbilical cord blood was extracted by ultrasound-guided transabdominal puncture for SNP array.…”

Section: Methodsmentioning

confidence: 99%

Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies

Cai

Huang

et al. 2021

Front. Genet.

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The association between genetics and fetuses with ventriculomegaly (VM) is unknown. This study aimed to classify and evaluate abnormal copy number variations (CNVs) in fetuses with VM. From December 2016 to September 2020, amniotic fluid or umbilical cord blood from 293 pregnant women carrying fetuses with VM was extracted for single-nucleotide polymorphism microarray (SNP array). Among 293 fetuses with VM, 31 were detected with abnormal CNVs, including 22 with pathogenic CNVs (7.51%) and nine with variation of uncertain clinical significance (VUS) CNVs (3.07%). Of the 22 fetuses with pathogenic CNVs, 13 had known disease syndromes. Among the 293 fetuses, 133 had mild isolated VM [pathogenic CNVs, 7/133 (5.26%)]; 142 had mild non-isolated VM [pathogenic CNVs, 13/142 (9.15%)]; 12 had severe isolated VM [pathogenic CNVs, 2/12 (16.67%)]; and six had severe non-isolated VM (no abnormal CNVs was detected). There was no statistical significance in the rate of pathogenic CNVs among the four groups (P = 0.326, P > 0.05). Among the 267 fetuses with successful follow-up, 38 were terminated (of these, 21 had pathogenic CNVs). Of the 229 fetuses, two had developmental delay and the remaining 227 had a good prognosis after birth. Overall, the results are useful for the detection of fetal microdeletion/microduplication syndrome and for the accurate assessment of fetal prognosis in prenatal consultation.

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Copy number variations associated with fetal congenital kidney malformations

Cited by 9 publications

References 29 publications

Genetic analysis and pregnancy outcomes of fetuses with kidney and urinary tract anomalies

Genetic analysis and pregnancy outcomes of fetuses with kidney and urinary tract anomalies

Clinical Utility and the Yield of Single Nucleotide Polymorphism Array in Prenatal Diagnosis of Fetal Central Nervous System Abnormalities

Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies

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