Comparison of Multiplex Ligation-Dependent Probe Amplification and Karyotyping in Prenatal Diagnosis

Boormans, Elisabeth M.; Birnie, Erwin; Oepkes, Dick; Galjaard, R. J. H.; Schuring-Blom, G. Heleen; Lith, Jan M. van

doi:10.1097/aog.0b013e3181cbc652

Cited by 39 publications

(28 citation statements)

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“…However, by evaluating 1550 clinical samples, we found that for aneuploidy detection, both the clinical sensitivity and specificity of our method (100%) were equivalent to QF-PCR and MLPA, which possess higher target density (Boormans et al, 2010;Papoulidis et al, 2012). Such data implied that two target loci per chromosome were sufficient for ensuring precision in prenatal diagnosis.…”

Section: Zhou Et Almentioning

confidence: 65%

Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

ZhouYulin

Xiaoli²,

WuQichang³

et al. 2014

Genetic Testing and Molecular Biomarkers

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Section: Zhou Et Almentioning

confidence: 65%

Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

ZhouYulin

Xiaoli²,

WuQichang³

et al. 2014

Genetic Testing and Molecular Biomarkers

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“…In summary, MLPA is able to detect trisomies 13, 18, 21, X and Y with comparable diagnostic accuracy [10, 29, 30] and without adverse effect on quality of life at considerably lower costs for the complete testing process. We conclude that MLPA is the preferred strategy and recommend substitution of karyotyping for MLPA for relatively low-risk indications.…”

Section: Resultsmentioning

confidence: 99%

“…ultrasound abnormalities) since these are associated with an increased risk of a chromosomal abnormality other than trisomies 13, 18, 21 and sex chromosome abnormalities. Details of the study design have been published elsewhere [9, 10]. In summary, after obtaining informed consent, amniocentesis was carried out by specifically trained obstetricians.…”

Section: Methodsmentioning

confidence: 99%

Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis

Boormans

Birnie

Hoffer

et al. 2011

Arch Gynecol Obstet

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PurposeTo assess the cost-effectiveness of Multiplex Ligation-dependent Probe Amplification (MLPA, P095 kit) compared to karyotyping.MethodsA cost-minimization analysis alongside a nationwide prospective clinical study of 4,585 women undergoing amniocentesis on behalf of their age (≥36 years), an increased risk following first trimester prenatal screening or parental anxiety.ResultsDiagnostic accuracy of MLPA (P095 kit) was comparable to karyotyping (1.0 95% CI 0.999–1.0). Health-related quality of life did not differ between the strategies (summary physical health: mean difference 0.31, p = 0.82; summary mental health: mean difference 1.91, p = 0.22). Short-term costs were lower for MLPA: mean difference €315.68 (bootstrap 95% CI €315.63–315.74; −44.4%). The long-term costs were slightly higher for MLPA: mean difference €76.42 (bootstrap 95% CI €71.32–81.52; +8.6%). Total costs were on average €240.13 (bootstrap 95% CI €235.02–245.23; −14.9%) lower in favor of MLPA. Cost differences were sensitive to proportion of terminated pregnancies, sample throughput, individual choice and performance of tests in one laboratory, but not to failure rate or the exclusion of polluted samples.ConclusionFrom an economic perspective, MLPA is the preferred prenatal diagnostic strategy in women who undergo amniocentesis on behalf of their age, following prenatal screening or parental anxiety.Electronic supplementary materialThe online version of this article (doi:10.1007/s00404-011-1921-y) contains supplementary material, which is available to authorized users.

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“…For pregnancies with an increased risk of Down syndrome, a change of policy from full karyotype analysis to rapid molecular aneuploidy testing would result in a failure to detect chromosome abnormalities that may have clinical consequences. This residual risk has been estimated to be 0.07% [25-27]. Next to the debate of targeted RAD replacing TK there is a discussion whether the scope of diagnostic testing should be broader than karyotyping.…”

Section: Discussionmentioning

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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Comparison of Multiplex Ligation-Dependent Probe Amplification and Karyotyping in Prenatal Diagnosis

Abstract: II.

Cited by 39 publications

References 28 publications

Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

Rapid Prenatal Diagnosis of Common Numerical Chromosomal Abnormalities by High-Resolution Melting Analysis of Segmental Duplications

Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis

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

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