Early amniocentesis versus chorionic villus sampling for fetal karyotyping

Saura, R.; Roux, D.; Taine, Laurence; Maugey, B; Laulon, D; Laplace, J.-P.; Horovitz, J.; Bombard, AllanT; Carter, SuzanneM; Nitowsky, Harold M.; Boulos, Anan; Tsirigotis, M.; Yazdani, Nahid; Craft, Ian

doi:10.1016/s0140-6736(94)92384-1

Cited by 15 publications

(7 citation statements)

References 4 publications

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“…Maternal cell contamination occurs less frequently when dealing with cultured AF samples because culturing favours the growth of amniocytes over maternal peripheral blood cells . Although cultured CVS is more prone to contamination than direct ones, the degree of MCC can be reduced by careful dissection of maternal decidua from chorionic villi before culture set‐up . Prenatal molecular diagnostics can be challenging as laboratories have to deal with practically irreplaceable, often suboptimal specimens, and a very short turnaround time, while result interpretation is often not straightforward…”

Section: Introductionmentioning

confidence: 99%

“…5 Although cultured CVS is more prone to contamination than direct ones, the degree of MCC can be reduced by careful dissection of maternal decidua from chorionic villi before culture set-up. 6 Prenatal molecular diagnostics can be challenging as laboratories have to deal with practically irreplaceable, often suboptimal specimens, and a very short turnaround time, while result interpretation is often not straightforward. 2 Genotype of the fetus may be falsely determined in the presence of MCC because of the high sensitivity of PCR-based methods to DNA contamination.…”

Section: Introductionmentioning

confidence: 99%

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Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

et al. 2018

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In the case of Sanger sequencing, sensitivity to MCC was variable, while for MLPA, only high levels of MCC proved to be significant. Although the next-generation sequencing method was sensitive to low-level MCC, if MCC level is determined in parallel, accurate quantification of allelic ratios can help to interpret the diagnostic results. Knowledge of significant MCC levels allows correct prenatal diagnosis even if samples are not purely of fetal origin and repeated sampling can be avoided in many of the cases.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

et al. 2018

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“…Maternal cell contamination (MCC) is increased with placental penetration, two passes and operator inexperience (Batanian et al, 1998;Steed et al, 2001). Uncultured amniotic cells present a higher level of maternal contamination than cultured cells (Winsor et al, 1996), while cultured chorionic villi present the highest level of maternal contamination (Saura et al, 1994). However, CVS is still the first choice for prenatal diagnosis in pregnancies at high risk (van den Berg et al, 2000).…”

Section: Introductionmentioning

confidence: 99%

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

et al. 2002

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The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: beta-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3'-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC.

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“…Thus, CVS cultures present the highest level of potential MCC. 5 The only practice guidelines available for the assessment of MCC during prenatal testing are described in the 2006 edition of Standards and Guidelines for Clinical Genetics Laboratories at http://www.acmg.net/Pages/ ACMG_Activities/stds-2002/g.htm (prenatal testing section G19, first added in 2003). Considering the potential risk for misdiagnosis in the event of co-amplification of maternal sequences with the prenatal sample, we endeavored to investigate current national testing practices.…”

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confidence: 99%

Testing for Maternal Cell Contamination in Prenatal Samples

Schrijver

Cherny

Zehnder

2007

The Journal of Molecular Diagnostics

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The potential presence of maternal cell contamination (MCC) in chorionic villus or amniotic fluid samples poses a serious preanalytical risk for prenatal misdiagnosis. The aim of this study was to identify current diagnostic practices in the absence of comprehensive practice guidelines. Thirty-five clinical molecular laboratories that conduct prenatal testing agreed to participate in a clinical practice survey. The survey included questions about sample requirements, test indications, assay type, test performance and limitations, criteria and management of uninformative test results, reporting, and billing. Sixty percent of participating laboratories performed testing on direct and cultured amniotic fluid, whereas forty percent tested cultured cells only. Most also accepted chorionic villus samples. Although MCC testing of fetal samples is recommended in guidelines by the American College of Medical Genetics, only 60% of surveyed laboratories performed it without exception. Commercially available assays were used by 75% of participating laboratories, and at least five identity markers were evaluated at 87% of the laboratories. The reported lower limit of MCC detection ranged from 1 to 20% but was not determined in all laboratories. MCC testing was performed in the majority of molecular diagnostic laboratories, but guidelines for standardization are needed to ensure optimal and accurate prenatal patient care.

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Early amniocentesis versus chorionic villus sampling for fetal karyotyping

Cited by 15 publications

References 4 publications

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

Testing for Maternal Cell Contamination in Prenatal Samples

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