High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

Al‐Kouatly, Huda B.; Makhamreh, Mona M.; Rice, Stephanie M.; Smith, Kelsey C.; Harman, Christopher; Quinn, Andrea; Valcarcel, Breanna; Firman, Brandy; Liu, Ruby; Hegde, Madhuri; Critchlow, Elizabeth; Berger, Seth

doi:10.1038/s41436-021-01121-0

Cited by 30 publications

(33 citation statements)

References 28 publications

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“…All 17 papers from Group A and 17 from Group B were eligible for meta-analysis: three focusing on NIHF [215][216][217], six on isolated and non-isolated skeletal anomalies [218][219][220][221][222][223], two on isolated NT [196,225], and five on isolated and not isolated cardiovascular anomalies [231][232][233][234]. In one paper [224], isolated and non-isolated NT categories retrieved from other studies [201,202] were possible to separate, and the two categories were counted separately in the analysis.…”

Section: Exome Sequencingmentioning

confidence: 99%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasound findings. Anomalies not fitting these definitions are categorized as “dynamic”. This meta-analysis aims to evaluate the diagnostic yield and the rates of variants of uncertain significance (VUSs) in fetuses undergoing molecular testing (chromosomal microarray (CMA), exome sequencing (ES), genome sequencing (WGS)) due to ultrasound findings. The CMA diagnostic yield was 2.15% in single soft markers (vs. 0.79% baseline risk), 3.44% in multiple soft markers, 3.66% in single structural anomalies and 8.57% in multiple structural anomalies. Rates for specific subcategories vary significantly. ES showed a diagnostic rate of 19.47%, reaching 27.47% in multiple structural anomalies. WGS data did not allow meta-analysis. In fetal structural anomalies, CMA is a first-tier test, but should be integrated with karyotype and parental segregations. In this class of fetuses, ES presents a very high incremental yield, with a significant VUSs burden, so we encourage its use in selected cases. Soft markers present heterogeneous CMA results from each other, some of them with risks comparable to structural anomalies, and would benefit from molecular analysis. The diagnostic rate of multiple soft markers poses a solid indication to CMA.

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Section: Exome Sequencingmentioning

confidence: 99%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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“…There are however a number of exceptions to this rule. Studies of aborted foetuses and miscarriages due to arthrogryposis as well as children born with severe arthrogryposis and profound cortical migration defects, hydrocephalus and cerebellar hypoplasia have identified specific mutations in BICD2, including the R694C variant and clear genotype phenotype correlations [41][42][43][44] .…”

Section: Rare Mutations In Bicd2 Cause a Complex Phenotype Of Neurogenic Arthrogryposis And Cortical Migration Defectsmentioning

confidence: 99%

Neurogenic arthrogryposis and the power of phenotyping

Rossor

2021

Neuromuscular Disorders

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In this article we review the commonest cause of neurogenic arthrogryposis, termed Spinal Muscular Atrophy Lower Extremity Dominant (SMALED), due to variants in DYNC1H1 and BICD2 . We discuss the characteristic clinical and radiological phenotype of this disorder and how this has facilitated the identification of the genetic cause of SMALED2. We also review the similarities and differences between the human SMALED phenotype and mouse models and how this has informed our understanding of the potential mechanisms governing motor neuron loss in these disorders.

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“…us, according to the scoring system of clinical features [14], he had 3 major symptoms and 2 minor symptoms of Noonan syndrome (Table 1). Hydrops fetalis is also reported to be associated with Noonan syndrome [15]. Balloon angioplasty was performed on day 54 of life, which proved to 2 Case Reports in Pediatrics be ineffective.…”

Section: Case Presentationmentioning

confidence: 99%

Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome

Oikawa

Ota

Iwasawa

et al. 2021

Case Reports in Pediatrics

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Thoracic empyema usually occurs as a complication of bacterial pneumonia, but in rare cases, it is caused by hematogenous dissemination secondary to nonpulmonary diseases. Congenital chylothorax or chylothorax in children is associated with maldevelopment of the lymphatic system, nonimmune hydrops fetalis, several syndromes including Down syndrome, Noonan syndrome, or Turner syndrome, a complication of thoracic surgery, right heart failure with high central venous pressure, or tumors. There are very few reports of empyema associated with preexisting chylothorax. In the present study, we describe a rare case of thoracic empyema associated with congenital chylothorax and supravalvular pulmonary stenosis associated with clinically diagnosed Noonan syndrome. It is necessary to closely monitor patients with chylothorax because they are at risk of developing severe lung infections, such as pleural empyema or lung abscesses.

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High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

Cited by 30 publications

References 28 publications

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Neurogenic arthrogryposis and the power of phenotyping

Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome

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