Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing

Zhang, Yongling; Jing, Xiangyi; Wan, Jun-Hui; Pan, Min; Li, Dong-Zhi

doi:10.1159/000520389

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…As shown here, genome-wide NIPT can have additional utility such as directing the choice of genetic tests/probes. Another recent case study illustrates this as well (Zhang et al, 2022). In a woman with previous failed pregnancies, results of genome-wide NIPT prompted the performance of a diagnostic test and the choice of CMA as opposed to classic karyotyping.…”

Section: Discussionmentioning

confidence: 97%

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

et al. 2022

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A supernumerary marker chromosome (SMC) is a structurally abnormal chromosome that cannot be characterized by conventional banding cytogenetics. Marker chromosomes are present in 0.075% of prenatal cases. They are associated with variable phenotypes, ranging from normal to severely abnormal, and the prognosis is largely dependent on the results of further cytogenomic analysis. Here, we report the identification and characterization of a marker chromosome following prenatal screening in a 39-year-old pregnant patient. The patient had a normal first trimester ultrasound but was high-risk for fetal chromosome anomalies based on the results of maternal serum parameters. Chorionic villus sampling was performed, and analysis of chorionic villi revealed the presence of two identical marker chromosomes. In the interest of a rapid identification of the markers, we performed noninvasive prenatal testing (NIPT) together with chorionic villus sampling. A pericentromeric 29 Mb duplication of chromosome 20: dup (20) (p13q11.21) was identified and thereafter confirmed by targeted metaphasic FISH. Whole-genome sequencing-based NIPT was instrumental in rapid characterization of the SMCs and allowed us to obviate the need for multiple expensive and time-consuming FISH analyses.

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Section: Discussionmentioning

confidence: 97%

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

et al. 2022

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“…Because of this non‐specific intrauterine phenotype and the low prevalence, there are only few published reports of prenatal diagnosis of SRS 18,19 . Recently, prenatal detection of SRS in a case of maternally inherited duplication of chromosome 11p15 by analysis of cell‐free DNA has been reported 20 . However, this approach is limited to the rare condition of known chromosomal aberrations.…”

Section: Prenatal Manifestations and Postnatal Clinical Management—a ...mentioning

confidence: 99%

Prenatal testing for Imprinting Disorders: A clinical perspective

et al. 2023

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Imprinting Disorders (ImpDis) are a group of congenital conditions caused by aberrant imprinting resulting in disturbed expression of parentally imprinted genes.ImpDis are rarely associated with major malformations, but pre-and/or postnatal growth and nutrition are often affected. In some ImpDis, behavioral, developmental, metabolic and neurological symptoms might present in the perinatal context or later in life, and in single ImpDis, there is a higher risk of tumors in childhood. Prognosis depends in part on the molecular cause of each ImpDis, but due to high clinical variability and (epi)genetic mosaicism, predicting the clinical outcome of a pregnancy solely based on the underlying molecular disturbance is difficult. Therefore, interdisciplinary care and treatment approaches play an important role in the management and decision making of affected pregnancies, especially taking into account fetal imaging in addition to genetic findings. Prenatal findings influence perinatal management, and thereby improve the prognosis of ImpDis associated with severe but sometimes transient clinical complications in the neonatal period.Therefore, prenatal diagnosis can be crucial for appropriate management not only to the pregnancy itself but might also have a life-long effect. Key pointsWhat's already known about this topic? � Prenatal clinical findings of Imprinting Disorders (ImpDis) are non-specific, heterogeneous and currently under-recognized. � Triggers of Imprinting Disorders are (epi)genetic and non-genetic heterogeneous risk factors. � Prenatal diagnosis of Imprinting Disorders can help to optimize perinatal management and improve clinical outcome. What does this review add?� This review focuses on the most common Imprinting Disorders in prenatal life.� Prenatal health professionals should consider Imprinting Disorders in fetuses with overgrowth or restricted growth when the underlying cause is not evident.

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“…These authors also report that UPDs account for approximately 7% of cases, most of which are mUPD7. Other genomic alterations, such as chromosome structural aberrations (3%) [3][4][5][6] and single nucleotide polymorphisms (SNPs), copy number variations (CNVs), and small insertions and deletions (indels) (together constituting 1.6%) were also observed in these cases [7]. In addition, sequence variants of the high-mobility group AT-Hook 2 (HMGA2) and pleomorphic adenoma gene 1 (PLAG1), two non-imprinted genes, have been implicated in SRS [8,9].…”

Section: Introductionmentioning

confidence: 99%

Chromosome 7 Isodisomy in a Child with Silver-Russell Síndrome

Méndez-Rosado,

Vaglio,

Lardoeyt- Ferrer

et al. 2024

OBM Genet

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Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, and small insertions and deletions. The most prevalent clinical manifestations include prenatal and postnatal growth retardation, dysmorphic features, and feeding difficulties. We present a case of a 4-year-old boy with phenotypic features consistent with Silver-Russell syndrome. The sample was subjected to conventional karyotyping analysis. The analysis was also conducted using the SALSA MLPA Probemix ME032-A1 UDP7-UDP14 and Applied Biosystems CytoScan 750K Suite. MS-MLPA analysis revealed the presence of hypermethylation in the <em>GRB-10</em> and <em>MEST</em> genes on chromosome 7. SNP-array analysis revealed a loss of heterozygosity (LOH) at 7q11.22q31.1 (38.7 Mb). The methylation of the genes involved in this epigenetic event, in conjunction with LOH and the clinical characterization of this child, indicates that the origin of the disease is due to an isodisomy of maternal chromosome 7. This report of a child who exhibits the clinical characteristics of SRS and presents a UPD of chromosome 7, most likely originating from the mother, once again demonstrates the involvement of these genes in SRS despite the incomplete understanding of the underlying mechanism. A multidisciplinary strategy has been proposed for the follow-up and treatment of this disease according to its etiology in the proband.

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Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing

Cited by 3 publications

References 17 publications

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome

Prenatal testing for Imprinting Disorders: A clinical perspective

Chromosome 7 Isodisomy in a Child with Silver-Russell Síndrome

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