Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis

Shaffer, Lisa G.; Bui, The‐Hung

doi:10.1002/ajmg.c.30114

Cited by 111 publications

(95 citation statements)

References 109 publications

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“…It has been reported that triploidies 11,16 or 69,XXX only 10,12,17 cannot be diagnosed by MLPA. However, if an AF sample is not blood contaminated, we show that in cases of a male fetus, triploidies can be detected by an aberrant pattern of MLPA probe signals, which mimics MCC.…”

Section: Discussionmentioning

confidence: 99%

“…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. We did so because this has been reported to differ between laboratories, due to the invasive procedure itself, which is a significant contributor to MCC.…”

Section: Discussionmentioning

confidence: 99%

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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%

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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“…It has been estimated that 5% of all human conceptions are aneuploidy (Hassold and Hunt, 2001). Despite the efficiency of karyotyping as a gold standard technique (Shaffer and Bui, 2007), quantitative fluorescent polymerase chain reaction (QF-PCR) has emerged as a rapid, accurate, cost effective, and high throughput method for prenatal diagnosis of chromosomal aneuploidies (Cirigliano et al, 2006;Mann et al, 2008;Mann and Ogilvie, 2012;Rostami et al, 2015). QF-PCR is a PCR-based technique that amplifies short tandem repeats (STRs) located on chromosomes of interest to determine the copy numbers of those chromosomes present per cell (Langlois and Duncan, 2011).…”

Section: Introductionmentioning

confidence: 99%

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

et al. 2016

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ABSTRACT. Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic variation parameters of each STR marker differ among different populations. In this study, we investigated the size, frequency, heterozygosity, polymorphism information content, power of discrimination, and other genetic polymorphism data for 21 STR markers on chromosomes 13, 18, 21, X, and Y in 1000 amniotic fluid samples obtained from south Iranian women. Our results showed that all the 21 STR markers are highly polymorphic and informative in our population. The heterozygosity, polymorphism information content, and power of discrimination of the markers were 62-91.1%, 0.61-0.91, and 0.830-0.976, respectively. The locus D18S386 was the most polymorphic STR, while the locus DXYS218 was the least polymorphic STR among all the studied STRs. The present study has provided extensive data regarding the efficiency of the 21 STR markers for diagnosis of chromosomes 13, 18, 21, X, and Y aneuploidies in the south Iranian population.

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“…Though the specialty was originally a clinical one, an increased understanding of the genetic and environmental causes of birth defects over the years has led to rapid expansion of the field which now also encompasses basic science, laboratory medicine, epidemiology and therapeutics. Possibilities for undertaking genetic testing to elucidate the cause of congenital abnormalities have increased dramatically with the introduction of new genetic technologies 8 , but many of these are not yet mainstream, and careful clinical examination of the fetus remains important to guide investigation.…”

Section: Introductionmentioning

confidence: 99%

Fetal Dysmorphology

Clayton‐Smith

2012

Fet. Matern. Med. Rev.

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Congenital malformations are common, occurring in around 1 in 40 pregnancies. Analysis of data from European population-based congenital anomaly registers reported a malformation rate of 29.3 per 1000 births. Eighty percent of these were in live births whereas 17% were observed in fetuses terminated after ultrasound diagnosis of fetal abnormality. The remainder were stillborn or fetal deaths in utero. Fetal autopsy is still regarded as the gold standard procedure for identification of fetal abnormalities but assessment of the fetus by a clinical geneticist or other specialist with expertise in dysmorphology may also be informative. When coupled with other investigations which are non-invasive or involve only sampling of blood or other body fluids, examination for external malformations and dysmorphic features may complement autopsy findings or provide important information as to the causation of fetal abnormalities when autopsy is not possible. This situation is now becoming more common as rates of fetal autopsy have dropped significantly in the UK in recent years.

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Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis

Cited by 111 publications

References 109 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

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population

Fetal Dysmorphology

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