Multiplex ligation‐dependent probe amplification (MLPA) in prenatal diagnosis—experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

Gerdes, Tommy; Kirchhoff, Maria; Lind, Anne-Marie; Larsen, Gitte Vestergaard; Kjærgaard, Susanne

doi:10.1002/pd.2137

Cited by 26 publications

(25 citation statements)

References 15 publications

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“…In many publications, the sensitivity and specificity of the MLPA method, regarding the identification of the most frequent rearrangements, amounted to 100% [31,32,40]. The frequency of failures resulting, among others, from poor DNA quality varied from 0.8% to 4.4% [30][31][32]. Many authors emphasise the fact that the MLPA method is sensitive to DNA quality.…”

Section: Discussionmentioning

confidence: 99%

“…Tests that enable the identification of selected chromosome aberrations by other methods are increasingly common: FISH (fluorescence in situ hybridization), QF-PCR (quantitative fluorescence polymerase chain reaction), and MLPA (multiplex ligation-dependent probe amplification) [20][21][22][23][24][25][26][27][28][29][30][31][32]. These methods, having comparable efficacy and diagnostic reliability, making it possible to diagnose SHOX gene rearrangements [33].…”

Section: Diagnosticsmentioning

confidence: 99%

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Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Mitka

Bednarek²,

Kałużewski³

2015

Endokrynologia Polska

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Introduction: The SHOX gene has been mapped at the pseudoautosomal region 1 (PAR1) of chromosomes X (Xp22.33) and Y (Yp11.32). The loss of SHOX gene functionality is assumed to be responsible for the Leri-Weill syndrome formation and the disproportionate short stature (DSS). The SHOX gene rearrangements constitute the majority of cases of gene functionality loss. Therefore, a practical application of the method, which allows for the diagnostics of the gene rearrangements, becomes a primary issue. With such an assumption, the MLPA technique (multiplex ligation -dependent probe amplification) becomes the method of choice. Material and methods: DNA samples were evaluated in the study by means of the MLPA method. The DNA was isolated from peripheral blood of sixty-three (63) 46,XX patients with short stature. Results: Out of the examined patients, deletions within the SHOX gene were found in five (5) patients, and duplication at the PAR1 regulatory region of the SHOX gene in one (1)

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Section: Discussionmentioning

confidence: 99%

Section: Diagnosticsmentioning

confidence: 99%

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Mitka

Bednarek²,

Kałużewski³

2015

Endokrynologia Polska

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“…Sequences showing aberrant copy numbers are identified by comparing the peak pattern obtained to that of reference samples. MLPA analyses were performed using the SALSA MLPA kit P095 Aneuploidy (MRC-Holland, Amsterdam, The Netherlands), containing probes designed to detect aneuploidy of chromosomes 13, 18, 21, X, and Y [20]. Information on the localization, sequences, and lengths of the probes is available on the MRC-Holland website (https://www.mlpa.com/WebForms/WebFormProductDetails.aspx?Tag = _tz2fAPIAupKyMjaDF-E-t9bmuxqlhe_Lgqfk8Hkjuss.&ProductOID = _b4E4JKHdVds).…”

Section: Methodsmentioning

confidence: 99%

“…It was introduced in clinical practice to rapidly detect aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal screening [17,18,19,20]. Here, for the first time, we used MLPA to screen for putative X aneuploidies and X structural abnormalities in the postnatal period.…”

Section: Introductionmentioning

confidence: 99%

Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

Grandone

Blanco²,

Torella³

et al. 2016

Horm Res Paediatr

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Aims: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot TS group. We then tested this value on a second group of TS patients and a short-stature population to measure specificity and sensitivity. Methods: 15 TS patients with X mosaicism or X structural abnormalities (Pilot TS Group), 45 TS karyotype-assessed patients (TS Group), and 74 prepubertal female patients with apparent idiopathic short stature (Short-Stature Group) were enrolled. All subjects underwent MLPA and karyotype analysis. In the TS and Short-Stature Groups, MLPA testing was performed in blind. Results: The choice of an MLPA threshold ratio of 0.76 for at least 1 probe allowed us to detect all TS cases, including mosaicisms. Sensitivity and specificity were 100% (CI 95%, 0.92-1) and 88.89% (CI 95%, 0.79-0.94), respectively. The positive predictive value was 88.5%, and the negative predictive value was 100%. MLPA detected the presence of Y chromosome material in 2 patients. Conclusion: MLPA is an accurate and inexpensive tool to screen for TS in girls with short stature. A customized MLPA kit may be useful for the screening of an even larger population.

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“…With TK, a wide range of chromosomal abnormalities can be detected, including alterations in copy number (aneuploidy) and structural chromosomal rearrangements such as translocations and inversions, being either balanced or unbalanced. Targeted PCR-based assays such as multiplex ligation-dependent probe amplification (MLPA) or quantitative fluorescent PCR (QF-PCR), are highly suited for rapid aneuploidy detection (RAD) of the chromosomes 21, 18, 13, X and Y [4-12]. Previously, it has been suggested that if the referral reason is an increased risk of Down's syndrome, resulting from a positive screening test result or an advanced maternal age, karyotyping could effectively be replaced by RAD, provided that no structural fetal abnormality has been detected upon ultrasound examination [5,13-17].…”

Section: Introductionmentioning

confidence: 99%

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

et al. 2012

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As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic villus (CV) and 46 (9.2%) amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC) and long-term culture (LTC) cells. Overall, 19 (3.8%) abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13), two with a sex chromosomal aneuploidy (Klinefelter syndrome), one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8%) abnormal cases, including 12 cases (2.4%) with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

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Multiplex ligation‐dependent probe amplification (MLPA) in prenatal diagnosis—experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y

Abstract: The data presented confirm that MLPA is a rapid, simple and reliable method for large scale testing for nonmosaic aneuploidy of chromosomes 13, 18, 21, X, or Y in trypsin-digested CVS and in AF.

Cited by 26 publications

References 15 publications

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Diagnostyka rearanżacji genu SHOX u kobiet 46,XX z idiopatyczną niskorosłością

Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

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