Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2

Li, Meihua; Liu, Linlin; Wu, Yijun; Guan, Jian

doi:10.1177/03000605221109400

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…CMA technology is a high-resolution method for genome-wide detection and has been recommended as a primary testing for prenatal diagnosis. This method can be used to detect CNVs of chromosome imbalances, such as aneuploidy and unbalanced rearrangements, especially chromosome microdeletion and duplication ( Hsiao et al, 2022 ; Li et al, 2022 ; Liu et al, 2022 ). CMA includes microarray-based comparative genomic hybridization and SNP array.…”

Section: Introductionmentioning

confidence: 99%

Advanced maternal age: copy number variations and pregnancy outcomes

Cao

Dong

et al. 2023

Front. Genet.

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Objective: Adverse pregnancy outcomes are closely related to advanced maternal age (AMA; age at pregnancy ≥35 years). Little research has been reported on aneuploid abnormalities and pathogenic copy number variations (CNVs) affecting pregnancy outcomes in women with AMA. The purpose of this study was to assess CNVs associated with AMA in prenatal diagnosis to determine the characteristics of pathogenic CNVs and assist with genetic counseling of women with AMA.Methods: Among 277 fetuses of women with AMA, 218 (78.7%) were isolated AMA fetuses and 59 (21.3%) were non-isolated AMA fetuses and showed ultrasound anomalies from January 2021 to October 2022. Isolated AMA was defined as AMA cases without sonographic abnormalities. Non-isolated AMA was defined as AMA cases with sonographic abnormalities such as sonographic soft markers, widening of the lateral ventricles, or extracardiac structural anomalies. The amniotic fluid cells underwent routine karyotyping followed by single nucleotide polymorphism array (SNP-array) analysis.Results: Of the 277 AMA cases, karyotype analysis identified 20 chromosomal abnormalities. As well as 12 cases of chromosomal abnormalities corresponded to routine karyotyping, the SNP array identified an additional 14 cases of CNVs with normal karyotyping results. There were five pathogenetic CNVs, seven variations of uncertain clinical significance (VOUS), and two benign CNVs. The detection rate of abnormal CNVs in non-isolated AMA cases was increasing (13/59; 22%) than in isolated AMA cases (13/218; 5.96%) (p < 0.001). We also determined that pathogenic CNVs affected the rate of pregnancy termination in women with AMA.Conclusion: Aneuploid abnormalities and pathogenic CNVs affect pregnancy outcomes in women with AMA. SNP array had a higher detection rate of genetic variation than did karyotyping and is an important supplement to karyotype analysis, which enables better informed clinical consultation and clinical decision-making.

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Section: Introductionmentioning

confidence: 99%

Advanced maternal age: copy number variations and pregnancy outcomes

Cao

Dong

et al. 2023

Front. Genet.

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“…Gene dosage alterations in this region are associated with shared and unique NDDs with more than twenty disorders reported according to DSM diagnosis [ 20 ]. 16p11.2 deletions and duplications are frequently reported for prenatal and postnatal diagnosis of patients with neurological syndromes [ 21 ]. Xq21 microdeletions and duplications are currently in lime light due to its unique penetrance mechanism in neurodevelopmental disorders like Prader-Willi syndrome [ 22 ].…”

Section: Introductionmentioning

confidence: 99%

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

Mudassir,

Alotaibi,

Kizilbash

et al. 2023

Heliyon

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Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication

Yue,

Hao,

Jiang

et al. 2024

BMC Pregnancy Childbirth

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Background Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities. However, the prenatal phenotypes associated with 16p11.2 copy number variations (CNVs) have not been well characterized. This study aimed to provide an elaborate summary of intrauterine phenotypic features for these genomic disorders. Methods Twenty prenatal amniotic fluid samples diagnosed with 16p11.2 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed in parallel. The pregnancy outcomes and health conditions of all cases after birth were followed up. Meanwhile, we made a pooled analysis of the prenatal phenotypes in the published cases carrying 16p11.2 CNVs. Results 20 fetuses (20/20,884, 0.10%) with 16p11.2 CNVs were identified: five had 16p11.2 BP2-BP3 deletions, 10 had 16p11.2 BP4-BP5 deletions and five had 16p11.2 BP4-BP5 duplications. Abnormal ultrasound findings were recorded in ten fetuses with 16p11.2 deletions, with various degrees of intrauterine phenotypic features observed. No ultrasound abnormalities were observed in any of the 16p11.2 duplications cases during the pregnancy period. Eleven cases with 16p11.2 deletions terminated their pregnancies. For 16p11.2 duplications, four cases gave birth to healthy neonates except for one case that was lost to follow-up. Conclusions Diverse prenatal phenotypes, ranging from normal to abnormal, were observed in cases with 16p11.2 CNVs. For 16p11.2 BP4-BP5 deletions, abnormalities of the vertebral column or ribs and thickened nuchal translucency were the most common structural and non-structural abnormalities, respectively. 16p11.2 BP2-BP3 deletions might be closely associated with fetal growth restriction and single umbilical artery. No characteristic ultrasound findings for 16p11.2 duplications have been observed to date. Given the variable expressivity and incomplete penetrance of 16p11.2 CNVs, long-term follow-up after birth should be conducted for these cases.

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Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2

Cited by 3 publications

References 16 publications

Advanced maternal age: copy number variations and pregnancy outcomes

Advanced maternal age: copy number variations and pregnancy outcomes

Genome-wide CNV analysis uncovers novel pathogenic regions in cohort of five multiplex families with neurodevelopmental disorders

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication

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