Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping

Stojilkovic-Mikic, T.; Mann, Kathy; Docherty, Zoe; Ogilvie, Caroline Mackie

doi:10.1002/pd.1089

Cited by 64 publications

(40 citation statements)

References 14 publications

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“…Visual inspection of the AF samples or the cell pellet after centrifugation does not exclude MCC. 2,4 It has been reported that bloodcontaminated samples cannot be processed by MLPA, or that MCC cannot be diagnosed by MLPA. 11,12,20 Before determining the effects of MCC on MLPA results, we established the relative occurrence of MCC in our AF samples.…”

Section: Discussionmentioning

confidence: 99%

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

et al. 2008

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The introduction of prenatal screening requires rapid high-throughput diagnosis of common aneuploidies. Multiplex ligation-dependent probe amplification (MLPA) allows for quick, easily automated multiplex testing of these aneuploidies in one polymerase chain reaction. We performed a large prospective study using MLPA on 4000 amniotic fluid (AF) samples including all indications and compared its value to karyotyping and fluorescence in situ hybridization (FISH). MLPA can reliably determine common aneuploidies with 100% sensitivity and 100% specificity. Moreover, some mosaic cases and structural chromosome aberrations were detected as well. In cases of a male fetus, triploidies can be detected by an aberrant pattern of probe signals, which mimics maternal cell contamination (MCC). Macroscopic blood contamination was encountered in 3.2% of the AF samples. In 20% of these samples, an MLPA pattern was found consistent with MCC, although there were no false negatives of the most common aneuploidies. As the vast majority of inconclusive results (1.7%) is due to potential MCC, we designed a protocol in which we determine whether MLPA can be performed on blood-contaminated AF samples by testing if blood is of fetal origin. Then, the number of inconclusive results could be theoretically reduced to 0.05%. We propose an alternative interpretation of relative probe signals for rapid aneuploidy diagnosis (RAD). We discuss the value of MLPA for the detection of (submicroscopic) structural chromosome anomalies. MLPA is a reliable method that can replace FISH and could be used as a stand-alone test for RAD instead of karyotyping.

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Section: Discussionmentioning

confidence: 99%

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

et al. 2008

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“…If a single male genotype was detected, this was reported as normal for chromosomes 13, 18 and 21 (with or without the sex chromosome result depending on referral indication). When a single female genotype was detected for such samples, a preliminary report was issued stating that it was not possible to be certain that the genotype analysed was fetal (Stojilkovic-Mikic et al, 2005) Five CV samples (0.13% of all CV samples) were found to be unsuitable for QF-PCR due to the presence of two genotypes; these samples had been inadequately cleaned of contaminating maternal decidua at sample preparation or were of recognisably poor morphology and/or small size upon receipt. In these cases, an aliquot of the cultured CV cells was subsequently genotyped by QF-PCR prior to reporting the karyotype result, to ensure that only fetal cells had grown and been analysed.…”

Section: Maternal Cell Contaminationmentioning

confidence: 99%

QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region

et al. 2010

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Objective To analyse the results of the first 2 years of a QF-PCR stand-alone testing strategy for the prenatal diagnosis of aneuploidy in the London region and to determine the advantages and disadvantages of this policy.Methods A review of the results of 9737 prenatal samples received for exclusion of chromosome abnormalities. All samples were subjected to QF-PCR testing for common aneuploidies but only samples fulfilling specific criteria subsequently had a full karyotype analysis. ResultsOf the 9737 samples received, 10.3% had a chromosome abnormality detected by QF-PCR testing. Of the 7284 samples received with no indication for karyotype analysis, 25 (0.3%) received a normal QF-PCR result but subsequently had an abnormal karyotype detected either prenatally as a privately funded test or postnatally. Of these samples, without subsequent abnormal ultrasound findings, five had a chromosome abnormality associated with a poor prognosis, representing 0.069% of samples referred for Down syndrome testing.Conclusion While back-up karyotyping is required for some samples, using QF-PCR as a stand-alone prenatal test for pregnancies without ultrasound abnormalities reduces costs, provides rapid delivery of results, and avoids ambiguous and uncertain karyotype results, reducing parental anxiety.

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“…Indeed, for HSCT recipients, maternal blood contamination becomes less of an issue for amniocentesis and CVS, as the maternal blood comes from a donor who is usually not directly related to the fetus. 27 However, when linkage analysis is performed using parental blood samples from HSCT recipients, it is of paramount importance to realize that peripheral blood DNA comes from the donor. Hence, archival DNA/blood material or alternative biopsy (e.g.…”

Section: Genetic Testingmentioning

confidence: 99%

Challenges and pitfalls in prenatal screening in pregnancies involving allogeneic stem cell transplantation recipients

Leung

2007

Bone Marrow Transplant

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Increasing numbers of successful pregnancies are reported in recipients of allogeneic hemopoietic stem cell transplantation (HSCT). These may occur naturally, or more commonly, through assisted reproduction. The pregnancy outcomes are usually normal. There are currently no guidelines on the prenatal management of pregnancies involving HSCT recipients. HSCT recipients are unique in that their red cells, lymphocytes and even the DNA in the circulation are donor derived. As a result, typical prenatal screening tests in parents, including mean cell volume (MCV), hemoglobin pattern, blood group, infective serology and DNA screening, are all affected. The MCV cannot be used as guide for iron and folate supplements, or for thalassemia and sickle cell anemia screening. Such screening must be based on pre-HSCT indices and pre-HSCT DNA samples. The risks for hemolytic disease of newborn and hepatitis B virus transmission have to be re-evaluated, based on both preand post-HSCT patient as well as donor blood group and serology results. Good communication between obstetricians and the HSCT physician is paramount to promote successful pregnancies in this distinct patient population.

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Maternal cell contamination of prenatal samples assessed by QF-PCR genotyping

Cited by 64 publications

References 14 publications

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

QF‐PCR as a stand‐alone test for prenatal samples: the first 2 years' experience in the London region

Challenges and pitfalls in prenatal screening in pregnancies involving allogeneic stem cell transplantation recipients

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