Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

Xu, Yan; Li, Xuchao; Ge, Huijuan; Xiao, Bing; Zhang, Yanyan; Ying, Xiaomin; Pan, Xiaoyu; Wang, Lei; Xie, Wen; Ni, L.; Chen, Sheng-Pei; Jiang, Wenting; Liu, Ping; Ye, Hui; Cao, Ying; Zhang, Jingmin; Liu, Yu; Yang, Zujing; Chen, Yingwei; Chen, Fang; Jiang, Hui; Ji, Xing

doi:10.1038/gim.2014.207

Cited by 74 publications

(68 citation statements)

References 41 publications

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“…It is mainly used in clinics for prenatal sex identification of X-linked disorders including hemophilia, Huntington's disease (HD), Duchenne muscular dystrophy (DMD), and congenital adrenal cortical hyperplasia (CAH) (Wright et al, 2009;van den Oever et al, 2015;Xu et al, 2015). It is also used for prenatal screening of fetal chromosomal aneuploidy and detection of the Rh factor (Boon and Fass, 2013;Chiu and Lo, 2013;Yang et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

Isolation and analysis of cell-free fetal DNA from maternal peripheral blood in Chinese women

Yang¹,

Zhu²,

Qiu³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Non-invasive prenatal diagnosis is used to detect the genetic material of the fetus by isolating the cell-free fetal DNA (cffDNA) from maternal peripheral blood. In order to establish an isolation method for 18079 Isolation and analysis of cell free fetal DNA ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18078-18089 (2015) cffDNA from maternal peripheral blood in Chinese women, the cffDNA was acquired with a two-step centrifugation using a QlAamp DNA Blood mini kit. The SRY gene of plasma DNA was amplified by polymerase chain reaction (PCR). Real-time quantitative PCR was used to measure the concentration of cffDNA in maternal peripheral blood in different pregnant women. The results of the SRY gene amplification of plasma DNA from pregnant women was the same as that of the amniocyte DNA. The average concentration of cffDNA in maternal peripheral blood of pregnant women in different gestational stages was 0.98 ng/mL (0.26-1.49 ng/mL), 1.43 ng/mL (0.46-2.34 ng/mL), and 1.95 ng/mL (0.65-6.81 ng/mL) from early, middle, and late gestational stages, respectively. The mean of cffDNA from total DNA in plasma in different stages of gestation was 22.28% (9.86-27.81%). The lowest concentration of DNA amplified by nested-PCR in our research was 10 -4 -10 -3 ng/µL. The isolation method for cffDNA from maternal peripheral blood was successfully established and further research into its applications will be conducted.

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Section: Introductionmentioning

confidence: 99%

Isolation and analysis of cell-free fetal DNA from maternal peripheral blood in Chinese women

Yang¹,

Zhu²,

Qiu³

et al. 2015

Genet. Mol. Res.

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“…Currently, NIPT is mainly used to detect aneuploidy, the Rh antigen D (RhD) group, X-linked genetic disease, and certain single gene inheritance diseases (21,26,27). Although the gender of the fetus can often be determined using an ultrasound scan of the fetus in the second or third trimester, isolation of cffDNA in the first trimester would open up novel fields of NIPT with an earlier diagnosis and earlier, more precise management of medical care.…”

Section: Discussionmentioning

confidence: 99%

“…The cffDNA in NIPT is mainly used in the clinic for prenatal identification of X-linked disorders, including hemophilia, Huntington's disease, Duchenne muscular dystrophy, congenital adrenal cortical hyperplasia prenatal screening of fetal chromosomal aneuploidy, and detection of the Rhesus (Rh) factor (21,23–27). Maternal plasma cell-free DNA is mixed with maternal and fetal DNA, of which fetal DNA represents a minor portion of the total.…”

Section: Introductionmentioning

confidence: 99%

Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)

Zhu

Cheng

Zhou

et al. 2017

Molecular Medicine Reports

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To develop an effective strategy to isolate and use cell-free fetal DNA (cffDNA) for the combined use of next-generation sequencing (NGS) for diagnosing choroideremia and non-invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X-linked recessive disease, choroideremia, was recruited. Cell-free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification. A nonsense mutation (c.C799T:p.R267X) of the CHM gene on the X chromosome of the proband (IV:7) and another 5 males with choroideremia were detected, while 3 female carriers with no symptoms were also identified. The fetus (VI:7) was identified as female from the cffDNA, and the same heterozygous nonsense mutation present in her mother was also confirmed. At one and a half years of age, the female baby did not present with any associated symptoms of choroideremia. Therefore, cffDNA was successfully used for the combined use of NGS for diagnosing choroideremia in a large Chinese pedigree, and NIPT for Y chromosome determination. This approach should result in a markedly increased use of prenatal diagnosis and improvement, and more sophisticated clinical management of diseases in China and other developing countries. The establishment of a highly accurate method for prenatal gene diagnosis will allow for more reliable gene diagnosis, improved genetic counseling, and personalized clinical management of our patients.

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“…The discovery of circulating cell-free fetal DNA in maternal plasma [1] has created a paradigm shift in noninvasive prenatal testing (NIPT), which has rapidly made its way into clinical practices worldwide, for example, cell-free DNA-based chromosomal aneuploidy detection [2,3,4,5,6,7,8] and diagnosis of monogenic diseases [9,10,11,12,13,14,15]. The circulating cell-free DNA (cfDNA) in a pregnant woman is a mixture of predominant maternal DNA derived from the hematopoietic system of the mother [16,17] and fetal DNA released through the apoptosis of cytotrophoblast cells during fetal development [18,19].…”

Section: Introductionmentioning

confidence: 99%

Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

Peng

Jiang

2017

IJMS

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The discovery of cell-free fetal DNA molecules in plasma of pregnant women has created a paradigm shift in noninvasive prenatal testing (NIPT). Circulating cell-free DNA in maternal plasma has been increasingly recognized as an important proxy to detect fetal abnormalities in a noninvasive manner. A variety of approaches for NIPT using next-generation sequencing have been developed, which have been rapidly transforming clinical practices nowadays. In such approaches, the fetal DNA fraction is a pivotal parameter governing the overall performance and guaranteeing the proper clinical interpretation of testing results. In this review, we describe the current bioinformatics approaches developed for estimating the fetal DNA fraction and discuss their pros and cons.

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Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

Cited by 74 publications

References 41 publications

Isolation and analysis of cell-free fetal DNA from maternal peripheral blood in Chinese women

Isolation and analysis of cell-free fetal DNA from maternal peripheral blood in Chinese women

Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT)

Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing

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