Prenatal DNA diagnosis of a single-gene disorder from maternal plasma

Saitô, Hiroshi; Sekizawa, Akihiko; Morimoto, Taro; Suzuki, Makoto; Yanaihara, Takumi

doi:10.1016/s0140-6736(00)02767-7

Cited by 241 publications

(141 citation statements)

References 4 publications

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“…3,4 These initial studies were followed by multiple reports of successful prenatal diagnosis of fetal RhD type and other fetal conditions by using fetal DNA obtained from peripheral maternal blood. [5][6][7] Fetal DNA enters the maternal circulation either as free DNA form or as fetal-derived cells. The maternal immune system may facilitate the release of FfDNA by causing destruction of the villous trophoblast or the fetal cells entering the maternal blood.…”

Section: Introductionmentioning

confidence: 99%

Noninvasive fetal RhCE genotyping from maternal blood

Geifman-Holtzman

Grotegut

Gaughan

et al. 2008

BJOG

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Background The successful prevention of RhD disease has brought attention to other red blood cells' antigens causing alloimmunisation including RhC/c and RhE/e. Prenatal diagnosis of fetal Rh genotype from maternal blood is in clinical use in Europe but not in the USA.Objective To estimate the collective reported diagnostic accuracy of fetal RhCE genotyping from peripheral maternal blood and compare the results of genotyping when fetal cells and free fetal DNA (FfDNA) are used.Search strategy English-written literature describing fetal RhCE determination from maternal blood using fetal cells or FfDNA was performed using medical subject headings and text words. The sources included Pubmed (1966Pubmed ( -2007, Ovid , CINAHL, The Cochrane Library, ACP Journal Club and OCLC. Key words were prenatal diagnosis, fetal RhCE, fetal DNA in maternal blood and alloimmunisation.Selection criteria A study was considered eligible if it described fetal RhCE type determination using maternal peripheral blood reported in the English literature. Abstracts were excluded.Data collection and analysis From each study, we determined the number of samples tested, fetal RhCE genotype, the source of the fetal DNA, gestational age, presence of alloimmunisation and confirmation of fetal RhCE type. Exclusions and inclusions were noted. We calculated composite estimates of accuracy using a weighted random effects model. We assessed the papers against an international quality, STARD checklist which is standards for reporting studies of diagnostic accuracy.Main results We identified 20 protocols in six English-written publications reporting fetal RhC/c (seven protocols) and/or E/e (13 protocols) genotyping using DNA obtained from maternal blood for a total of 369 samples. For RhC/c, 176 samples were tested and for RhE/e, 193 samples were tested. Accuracy was determined for each study and for all studies. The combined accuracy of fetal genotype was 96.3% for RhC/c and 98.2% for RhE/e. Only a few samples of the sorted cells were found to be a source for accurate diagnosis, but plasma was consistently the best source of fetal RhCE genotyping in 147/147 (100%) for RhC/c and 168/168 (100%) for RhE/e.Conclusions The combined accuracy of noninvasive fetal RhC/c or RhE/e determination using maternal peripheral blood is 96.3% and 98.2%, respectively. FfDNA in maternal plasma is a better source for genotyping reported to be 100% correct for both RHCE genotypes. Further studies and reports of accuracy from laboratories performing the tests are required before prenatal determination of fetal RhC/c or RhE/e genotypes from maternal blood can safely replace the current methods used in the management of the RhC/c or RhE alloimmunised pregnancies.

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Section: Introductionmentioning

confidence: 99%

Noninvasive fetal RhCE genotyping from maternal blood

Geifman-Holtzman

Grotegut

Gaughan

et al. 2008

BJOG

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“…Many genetic abnormalities, for example autosomal dominant myotonic dystrophy (Amicucci et al, 2000), Huntington's disease (Gonzalez-Gonzalez et al, 2003) or gene mutations such as achondroplasia (Saito et al, 2000) has already been examined from cffDNA. Furthermore, it is possible to detect some autosomal recessive diseases, such as cystic fibrosis (Gonzalez-Gonzalez et al, 2002) or -talasemia (Chiu et al, 2002).…”

Section: Noninvasive Cffdna Analysis Of Monogenic Inherited Diseasesmentioning

confidence: 99%

Noninvasive Prenatal Nucleic Acid Diagnostics of Down Syndrome

Vodička¹,

Vrtěl²,

Böhmová³

et al. 2011

Genetics and Etiology of Down Syndrome

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“…This finding has application in the management of pregnancies at risk of severe X-linked recessive (14), and Huntington's disease: in each case the father was known to be affected. For autosomal recessive disease, identification of the paternal allele, or a closely linked marker, serves to increase the a priori risk of an affected fetus from 25% to 50%; absence of the paternal allele excludes disease in the fetus.…”

mentioning

confidence: 94%

Placental mRNA in maternal plasma: Prospects for fetal screening

Ferguson‐Smith¹

2003

Proc. Natl. Acad. Sci. U.S.A.

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Prenatal DNA diagnosis of a single-gene disorder from maternal plasma

Cited by 241 publications

References 4 publications

Noninvasive fetal RhCE genotyping from maternal blood

Noninvasive fetal RhCE genotyping from maternal blood

Noninvasive Prenatal Nucleic Acid Diagnostics of Down Syndrome

Placental mRNA in maternal plasma: Prospects for fetal screening

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