Clinical experience of laboratory follow‐up with noninvasive prenatal testing using cell‐free <scp>DNA</scp> and positive microdeletion results in 349 cases

Schwartz, Stuart; Kohan, M.; Pasion, Romela; Papenhausen, Peter; Platt, Lawrence D.

doi:10.1002/pd.5217

Cited by 41 publications

(57 citation statements)

References 21 publications

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“…However, this task may be difficult because the DR, PPV, and other metrics for 22q11.2 detection in cffDNA are still not clearly defined . The PPV of cffDNA for this microdeletion in all samples varies from 0%, 5%, 9%, 18%, 21% to 96% . In the presence of ultrasound findings, the PPV is higher, reaching 82% to 89% …”

Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

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Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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Congenital heart diseases are a common prenatal finding. The prenatal identification of an associated genetic syndrome or a major extracardiac anomaly helps to understand the etiopathogenic diagnosis. Besides, it also assesses the prognosis, management, and familial recurrence risk while strongly influences parental decision to choose termination of pregnancy or postnatal care. This review article describes the most common genetic diagnoses associated with a prenatal finding of a congenital heart disease and a suggested diagnostic process.

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Section: Other Genetic Syndromes Associated With Cardiac Anomaliesmentioning

confidence: 99%

“…66,67 The PPV of cffDNA for this microdeletion in all samples varies from 0%, 5%, 9%, 18%, 21% to 96%. [68][69][70][71][72][73] In the presence of ultrasound findings, the PPV is higher, reaching 82% to 89%. 68,74 Recurrence risk depends on parental status: (…”

Section: Prenatal Ultrasound Findingsmentioning

confidence: 99%

Fetal cardiac abnormalities: Genetic etiologies to be considered

et al. 2019

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“…However, sub-chromosomal deletion and duplication remain challenging for NIPS owing to the small region of chromosomal abnormality [4]. NIPS coverage has expanded to detecting certain deletion syndromes such as the 22q11.2 deletion syndrome [5], but only few studies have reported the clinical performance of NIPS on duplication detection [6]. Furthermore, there is no evidence to support that NIPS can detect ES, which is a double-segment chromosome duplication of 11q23.3q25 and 22q11.1q11.21.…”

Section: Introductionmentioning

confidence: 99%

Non-invasive prenatal screening for Emanuel syndrome

et al. 2020

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Objective: The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection. Methods: NIPS was performed to diagnose the Emanuel syndrome. Amniocentesis or cordocentesis was performed to confirm the positive screening result of Emanuel syndrome cases. Fetal sample was detected by karyotyping, fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP Array). Parental karyotyping and FISH were also carried out. Results: Two cases with chromosomal abnormalities of 11q23.3q25 and 22q11.1q11.21 were found by NIPS. Chromosomal karyotyping showed that the two fetuses each have a small supernumerary marker chromosome (sSMC), SNP Array further demonstrated double duplications approximately 18 Mb in 11q23.3q25 and 3 Mb in 22q11.1q11.21. FISH confirmed that the small supernumerary marker chromosome (sSMC) was ish der(22)t(11;22) (TUPLE1+, ARSA-). Ultrasound scan and MRI showed some structure malformations in two fetuses. The two mothers were found to be a balanced carrier: 46,XX, t(11;22)(q23.3;q11.2). Conclusion: NIPS could effectively identify Emanuel syndrome, which may indicate risks of a parent being a balanced rearrangement carrier. The followed confirmation test for positive sample is necessary and ensures the accuracy of the diagnosis.

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“…In conclusion, PPVs may vary by technology (genome‐wide MPSS‐based and targeted SNP‐based technologies) . In the published studies, the specific clinical context and indications for cfDNA screening are unknown in the majority of cases.…”

Section: Introductionmentioning

confidence: 99%

Noninvasive screening by cell‐free DNA for 22q11.2 deletion: Benefits, limitations, and challenges

Grati¹,

Gross

2019

Prenatal Diagnosis

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Cell-free DNA (cfDNA) testing for fetal aneuploidy is one of the most important technical advances in prenatal care. Additional chromosome targets beyond common aneuploidies, including the 22q11.2 microdeletion, are now available because of this clinical testing technology. While there are numerous potential benefits, 22q11.2 microdeletion screening using cfDNA testing also presents significant limitations and pitfalls. Practitioners who are offering this test should provide comprehensive pretest and posttest prenatal counselling. The discussion should include the possibility of an absence of a result, as well as the risk of possible discordance between cfDNA screening results and the actual fetal genetic chromosomal constitution.The goal of this review is to provide an overview of the cfDNA testing technologies for 22q11.2 microdeletions screening, describe the current state of test validation and clinical experience, review "no results" and discordant findings based on differing technologies, and discuss management options.

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Clinical experience of laboratory follow‐up with noninvasive prenatal testing using cell‐free DNA and positive microdeletion results in 349 cases

Cited by 41 publications

References 21 publications

Fetal cardiac abnormalities: Genetic etiologies to be considered

Fetal cardiac abnormalities: Genetic etiologies to be considered

Non-invasive prenatal screening for Emanuel syndrome

Noninvasive screening by cell‐free DNA for 22q11.2 deletion: Benefits, limitations, and challenges

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