Prenatal Sex Determination by Dna Amplification From Maternal Peripheral Blood

Lo, Yuk-ming Dennis; Wainscoat, James S.; Gillmer, M. D. G.; Patel, P.; Sampietro, Maurizio; Fleming, K. A.

doi:10.1016/s0140-6736(89)91969-7

Cited by 261 publications

(110 citation statements)

References 19 publications

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“…Fetal blood enters the maternal circulation even during the first trimester [1,2]. A diagnosis of clinical fetomaternal hemorrhage (FMH) is made when fetal blood loss reaches a significant level leading to fetal anemia and clinical symptoms, such as an abnormal fetal heart rate patterns and/or fetal hydrops [3].…”

Section: Introductionmentioning

confidence: 99%

Changes in hemoglobin F levels in pregnant women unaffected by clinical fetomaternal hemorrhage

Yamada¹,

Morikawa²,

Yamada³

et al. 2013

Clinica Chimica Acta

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Complete automation of high-performance liquid chromatography (HPLC) for determination of hemoglobin F (%Hb F) and hemoglobin A1c (%Hb A1c) levels has made this procedure available in many clinical laboratories. However, the physiological changes in %Hb F during pregnancy and the effects of physiological and supraphysiological levels of %Hb A1c on measurement of %Hb F have not been studied extensively. Simultaneous determination of %Hb F and %Hb A1c was conducted in 490 blood samples obtained before (n = 21), during 1 st (n = 150), 2 nd (n = 116), and 3 rd (n = 192) trimesters of pregnancy, and postpartum (n = 11) from 357 women, including 60 women with hyperglycemia but unaffected by clinical fetomaternal hemorrhage, by HPLC. Mean (SD) Hb F levels were 0.71% (0.25%) before pregnancy. The value of 0.82% (0.47%) during 1 st trimester decreased significantly to 0.66% (0.35%) during 2 nd trimester and to 0.58% (0.38%) during 3 rd trimester. The level was 0.62% (0.31%) approximately one year after delivery. Thus, %Hb F was highest during 1 st trimester of pregnancy. The effects of varied %Hb A1c levels on %Hb F measurements were clinically negligible. Our data may be used as reference intervals of %Hb F determined with HPLC during pregnancy.

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Section: Introductionmentioning

confidence: 99%

Changes in hemoglobin F levels in pregnant women unaffected by clinical fetomaternal hemorrhage

Yamada¹,

Morikawa²,

Yamada³

et al. 2013

Clinica Chimica Acta

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“…In 1989, Lo et al [27] were the fi rst to show that the Y-chromosome-specifi c sequence from a male fetus could be amplifi ed from blood samples of pregnant women by PCR amplification based on male showed that an increased number of pregnancies had a positive effect on the chance of detecting fetal cells (χ 2 = 3.6, χ DNA. Subsequently, this technique was used to determine when fetal-cell DNA fi rst appeared in the peripheral blood of pregnant women, how long fetal cells survived in the host, and the frequency of microchimerism in women with a male fetus [28,29] .…”

Section: Discussionmentioning

confidence: 99%

Fetal cell microchimerism in the maternal mouse spinal cord

Zhang

Zhao

et al. 2013

Neurosci. Bull.

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Fetal cell microchimerism refers to the persistence of fetal cells in the maternal tissues following pregnancy. It has been detected in peripheral organs and the brain, but its existence in the spinal cord has not been reported. Our aim was to detect fetal cell microchimerism in the spinal cord of maternal mice. C57BL/6 female mice were crossed with GFP transgenic male mice and sacrificed after their first or third delivery. GFP-positive cells, which were presumably from fetuses whose fathers were GFP transgenic, were detected in the spinal cord by fl uorescence microscopy and immunohistochemistry. PCR was also performed to detect GFP DNA, which must come from GFP hemizygous fetuses. We found GFP-positive cells and detectable GFP DNA in most of the maternal spinal cords. Twenty percent (1/5) of the mice that were only pregnant once had detectable fetal cells, while 80% (4/5) of those that were pregnant three times had detectable fetal cells. Some fetal cells, which not only emitted green fluorescence but also expressed NeuN, were detected in the spinal cords from maternal mice. These results indicate that fetal cells migrate into the spinal cord of a maternal mouse during and/or after the gestational period, and the fetal cells may differentiate into neurons in the spinal cord.

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“…However, this hurdle can potentially be overcome by the immediate adoption of MS quantification of fetal SNPs in maternal plasma. Both the MS approach and the gender-independent fetal SNP assays could be extended to the study of fetal DNA in other maternal bodily fluids such as urine (37) and cerebrospinal fluid (38) or the phenomenon of cellular microchimerism (39)(40)(41), all of which also have been previously studied by means of the detection of Y-chromosome sequences (42,43).…”

Section: Discussionmentioning

confidence: 99%

MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis

Ding

Chiu

Lau

et al. 2004

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

177

152

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The analysis of circulating nucleic acids has revealed applications in the noninvasive diagnosis, monitoring, and prognostication of many clinical conditions. Circulating fetal-specific sequences have been detected and constitute a fraction of the total DNA in maternal plasma. The diagnostic reliability of circulating DNA analysis depends on the fractional concentration of the targeted sequence, the analytical sensitivity, and the specificity. The robust discrimination of single-nucleotide differences between circulating DNA species is technically challenging and demands the adoption of highly sensitive and specific analytical systems. We have developed a method based on single-allele base extension reaction and MS, which allows for the reliable detection of fetal-specific alleles, including point mutations and single-nucleotide polymorphisms, in maternal plasma. The approach was applied to exclude the fetal inheritance of the four most common Southeast Asian ␤-thalassemia mutations in at-risk pregnancies between weeks 7 and 21 of gestation. Fetal genotypes were correctly predicted in all cases studied. Fetal haplotype analysis based on a single-nucleotide polymorphism linked to the ␤-globin locus, HBB, in maternal plasma also was achieved. Consequently, noninvasive prenatal diagnosis in a mother and father carrying identical ␤-thalassemia mutations was accomplished. These advances will help in catalyzing the clinical applications of fetal nucleic acids in maternal plasma. This analytical approach also will have implications for many other applications of circulating nucleic acids in areas such as oncology and transplantation. R ecently, much interest has been focused on the biology and diagnostic applications of nucleic acids that are present in the plasma and serum of humans (1, 2). In particular, fetal DNA has been found to exist in maternal plasma (3). This discovery has facilitated the development of noninvasive prenatal diagnostic approaches based simply on the analysis of a maternal blood sample (4). The noninvasive nature of maternal plasmabased approaches represents a major advantage over conventional methods of prenatal diagnosis, such as amniocentesis and chorionic villus sampling, which are associated with a small but finite risk of fetal loss. However, a technical challenge experienced by many workers in the field relates to the ability to discriminate fetal DNA from the coexisting background of maternal DNA in maternal plasma. During pregnancy, fetal DNA amounts to Ϸ3-6% of the total DNA in maternal plasma (5). Hence, the diagnostic reliability of fetal DNA analysis in maternal plasma depends on the sensitivity and specificity of the analytical system for the detection of fetal-specific markers.Fetal SRY and RHD DNA detection from maternal plasma has reached close to 100% accuracy, as confirmed by many largescale evaluations (6-9). The high level of diagnostic accuracy is attained by the analytical sensitivity contributed by the use of real-time quantitative PCR (5, 10) and the analytical specifici...

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Prenatal Sex Determination by Dna Amplification From Maternal Peripheral Blood

Cited by 261 publications

References 19 publications

Changes in hemoglobin F levels in pregnant women unaffected by clinical fetomaternal hemorrhage

Changes in hemoglobin F levels in pregnant women unaffected by clinical fetomaternal hemorrhage

Fetal cell microchimerism in the maternal mouse spinal cord

MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis

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