Prenatal Diagnosis of Myotonic Dystrophy Using Fetal DNA Obtained from Maternal Plasma

Amicucci, Paola; Gennarelli, Massimo; Novelli, Giuseppe; Dallapiccola, Bruno

doi:10.1093/clinchem/46.2.301

Cited by 189 publications

(57 citation statements)

References 6 publications

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“…The peak height of informative (paternally inherited) fetal allele, shown in Figure 2, is obviously lower than the maternal allele. There were similar circumstances in previous literature reported by Tang and Paola (18,19). This may be due to the non-selective nature of PCR amplification of STRs, in that both the target (i.e.…”

Section: Discussionsupporting

confidence: 88%

Feasibility study of using fetal DNA in maternal plasma for non‐invasive prenatal diagnosis

Liu

Wang

et al. 2007

Acta Obstet Gynecol Scand

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Section: Discussionsupporting

confidence: 88%

Feasibility study of using fetal DNA in maternal plasma for non‐invasive prenatal diagnosis

Liu

Wang

et al. 2007

Acta Obstet Gynecol Scand

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“…They reported the detection of the foetal alleles in all 12 maternal plasma samples at term pregnancies [26]. Similar approach has also been used for studying disease-associated trinucleotide repeats such as those for myotonic dystrophy [32] and Huntington disease [33].…”

Section: Early Work On Foetal Allele Detectionmentioning

confidence: 99%

Non‐invasive detection of foetal RhD status and other genetic characteristics by circulating nucleic acids in maternal plasma

Tsui

2009

ISBT Science Series

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Since the discovery of cell‐free foetal DNA in maternal plasma in 1997, many circulating foetal DNA markers have been developed for the non‐invasive prenatal assessment of foetal genetic status. Some of the diagnostic applications, such as foetal sex determination and foetal rhesus D blood group genotyping, have already been introduced as routine services in some clinical centres. To extend the spectrum of foetal traits in which circulating foetal DNA can be worked on, advanced molecular technologies, such as mass spectrometry, microfluidic system and digital polymerase chain reaction analysis, have been employed. These newly developed tools have superior detection sensitivities and specificities over conventional methods. They have allowed researchers to overcome many technical challenges regarding the non‐invasive investigations of the foetal genetic characteristics, especially those involving a single nucleotide change. We envision that after validations by large‐scale studies, these new tools would be useful in a clinical setting in the near future.

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“…33 Recently, Amicucci et al were able to establish a prenatal diagnosis of myotonic dystrophy using maternal plasma. 34 Furthermore, prenatal exclusion of cystic fibrosis, 35,36 beta-thalassemia [37][38][39] and congenital adrenal hyperplasia, 40 has been described in at-risk pregnancies through analysis of fetal DNA in maternal blood.…”

Section: Diagnosis Of Fetal Single-gene Disordersmentioning

confidence: 99%

Recent advances in non‐invasive prenatal DNA diagnosis through analysis of maternal blood

Sekizawa¹,

Purwosunu

Matsuoka

et al. 2007

J of Obstet and Gynaecol

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Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic procedures. One potential non-invasive approach involves analysis of cell-free fetal DNA in maternal plasma or serum. Another approach utilizes fetal cells within the maternal circulation as a source of fetal DNA. At the present time, fetal gender and fetal RhD blood type within RhD-negative pregnant women can be reliably determined through analysis of maternal plasma. Furthermore, genetic alterations can be diagnosed in the maternal plasma when the mother does not have the alterations. However, the diagnosis of maternally inherited genetic disease and aneuploidy is limited using this approach. Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, separation methods, including a lectin-based method and autoimage analyzing, have been developed, which have improved the sensitivity of genetic analysis. This progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders. In the present article, we discuss recent advances in the field of non-invasive prenatal diagnosis.

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Prenatal Diagnosis of Myotonic Dystrophy Using Fetal DNA Obtained from Maternal Plasma

Cited by 189 publications

References 6 publications

Feasibility study of using fetal DNA in maternal plasma for non‐invasive prenatal diagnosis

Feasibility study of using fetal DNA in maternal plasma for non‐invasive prenatal diagnosis

Non‐invasive detection of foetal RhD status and other genetic characteristics by circulating nucleic acids in maternal plasma

Recent advances in non‐invasive prenatal DNA diagnosis through analysis of maternal blood

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