Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal Diagnosis

Shah, Sandip C; Shah, Nidhi; Shah, Parth; Ray, Hari Shankar P; Vaghasia, Ketan K; Mehta, Anil; Shah, Bhavini S.; Rao, Mandava V.

doi:10.7860/jcdr/2019/37547.13078

Cited by 3 publications

(7 citation statements)

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“…However, some enter the systemic circulation, forming cysts in the lungs, muscles, soft tissues, brain, or bones. Around 15% of cysts occur in the lung, 8-10% in unusual places, and 1-4% in the musculoskeletal region [4] . Muscle is thought to be an unsuitable environment for parasite life due to the presence of high lactic acid levels, muscle contractions, and blood filtration activities in the liver and lungs.…”

Section: Discussionmentioning

confidence: 99%

A Primary Hydatid Cyst of Thigh Mimicking as Soft Tissue Tumour: Diagnostic Dilemma

Sherkar,

Mehra,

Dubhashi

et al. 2024

ijirms

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Hydatid disease is one of the most prevalent parasitic infections caused by Echinococcus granulosus. It is likely to affect all organs. However, primary hydatid cysts of muscle tissue are so uncommon. A timely and precise diagnosis is critical to avoiding an unnecessary biopsy. Here, we present a case of a 29-year-old female presented with soft tissue swelling over the anterior aspect of the right thigh. The diagnosis of a hydatid cyst was made based on ultrasonography (USG) and magnetic resonance imaging (MRI). A complete surgical excision of the cyst was done with an uneventful postoperative course.

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Section: Discussionmentioning

confidence: 99%

A Primary Hydatid Cyst of Thigh Mimicking as Soft Tissue Tumour: Diagnostic Dilemma

Sherkar,

Mehra,

Dubhashi

et al. 2024

ijirms

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“…QF‐PCR is less labour intensive, has higher throughput and is considered to be more cost‐effective than FISH. However, it requires a skilled workforce and a well‐established infrastructure, consisting of all necessary equipment and computer systems to acquire valid results 12,13 . The average turnaround time (TAT) is 48 hours.…”

Section: Genomic Testing Strategiesmentioning

confidence: 99%

“…Prior to undergoing genomic testing, families must receive extensive pre‐test counselling and give informed consent 1,12,26 . As per the NHS guideline ‘Rapid exome sequencing service guidance’, there is a checklist that should be discussed with these patients prior to consent for NGS 9 .…”

Section: Proposed Clinical Pathwaymentioning

confidence: 99%

“…However, it requires a skilled workforce and a well-established infrastructure, consisting of all necessary equipment and computer systems to acquire valid results. 12,13 The average turnaround time (TAT) is 48 hours. If an abnormality is detected on QF-PCR this is followed up with a karyotype to check whether the result is due to 'free trisomy' (a sporadic as opposed to an inherited event) or an unbalanced translocation.…”

Section: Sources Of Fetal Dnamentioning

confidence: 99%

“…9,25,28 Prior to undergoing genomic testing, families must receive extensive pre-test counselling and give informed consent. 1,12,26 As per the NHS guideline 'Rapid exome sequencing service guidance', there is a checklist that should be discussed with these patients prior to consent for NGS. 9 Owing to the adoption of the variant classification guidelines from the American College of Medical Genetics and Genomics and the Association for Clinical Genomic Science, the consistency for variant reporting has improved.…”

Section: Proposed Clinical Pathwaymentioning

confidence: 99%

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Prenatal genomic testing for ultrasound‐detected fetal structural anomalies

Reilly¹,

McKenna

McCullough

et al. 2023

The Obstetric & Gynaecologis

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In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis. There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes. The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF-PCR/G-banding karyotype, chromosome microarray and exome sequencing, respectively. Learning objectivesTo understand the technical basis and clinical indications for QF-PCR, G-banding karyotype, chromosome microarray and exome sequencing.To appreciate the potential benefits and challenges associated with exome sequencing. To gain awareness of modern technologies that may be utilised to address recurrence risk, e.g. preimplantation genetic diagnosis and non-invasive prenatal diagnosis. Ethical issuesNot all technologies are currently available across all four nations of the UK, hence challenges are raised regarding healthcare equity. There can be uncertainty around the interpretation of prenatal genomic test results, which can have implications in counselling, particularly regarding termination of pregnancy. Incidental findings may be revealed, which can have implications for counselling and the future health of the fetus and the parents.

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