Recent advances in the prenatal interrogation of the human fetal genome

Hui, Lisa; Bianchi, Diana W.

doi:10.1016/j.tig.2012.10.013

Cited by 46 publications

(28 citation statements)

References 62 publications

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“…11 Since then, the ubiquity of trophoblastic emboli to maternal lung has been demonstrated, 21 and isolation of SNA from maternal peripheral blood has been accomplished using specific density preparations and antibody-based methods. 22-24 While some efforts have focused on harnessing fetal-maternal transfer for the rapidly advancing field of non-invasive prenatal testing, 25 it has been consistently clear that abnormalities in transplacental transfer are associated with adverse pregnancy outcomes, especially preeclampsia. Prior studies have shown that there is increased apoptosis within anchoring villi and among invading cytotrophoblast in preeclampsia.…”

Section: Discussionmentioning

confidence: 99%

Cellular Fetal Microchimerism in Preeclampsia

et al. 2013

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Previous studies have shown elevated concentrations of free fetal deoxyribonucleic acid and erythroblasts in maternal circulation in preeclampsia compared with normal pregnancy. Pluripotent and immunocompetent fetal cells also transfer to the maternal circulation during pregnancy, but whether concentrations of fetal mononuclear cells also differed in preeclampsia was unknown. We sought to quantify cellular fetal microchimerism in maternal circulation in women with preeclampsia and healthy controls. We studied women with preeclampsia and compared them with women with healthy pregnancies at similar gestational age. To identify a targetable polymorphism unique to the fetus to quantify fetal microchimerism, participants and family members were genotyped for the Human Leukocyte Antigen loci DRB1, DQA1, and DQB1, as well as several other polymorphisms. A panel of polymorphism-specific quantitative polymerase chain reaction assays was employed to identify and quantify fetal microchimerism in maternal peripheral blood mononuclear cells. Of 53 preeclampsia samples tested for cellular fetal microchimerism, 17 (32%) were positive, compared with 6 of 57 (6%) control samples (unadjusted odds ratio for detection 4.0, 95% confidence interval 1.5 – 11.1, p=0.007). The concentration of cellular fetal microchimerism (expressed as genome equivalents of fetal microchimerism per 100,000 maternal genome equivalents) was also higher among women with preeclampsia: median 0.0, mean 5.7, range 0-153.7, compared with controls: median 0.0, mean 0.3, range 0-9.1, p=0.002. We conclude that women with preeclampsia harbor cellular fetal microchimerism more commonly and at higher concentrations compared with women with uncomplicated pregnancy. The functional capacity and phenotype of these fetal cells is not yet known.

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Section: Discussionmentioning

confidence: 99%

Cellular Fetal Microchimerism in Preeclampsia

et al. 2013

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“…[7][8][9] In tandem with these developments in screening, advances in molecular genetics have increased the resolution with which we can assess the fetal genome. 10 The replacement of the banded karyotype with chromosomal microarrays (CMA) has led to an increase in prenatal diagnostic yield, particularly in fetuses with structural abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Population‐based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state‐wide data

Hui

Muggli

Halliday

2015

BJOG

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Objective To analyse population‐based trends over the entire history of prenatal testing for aneuploidy. Design Retrospective analysis of state‐wide data sets. Setting Australian state of Victoria with ~70 000 annual births. Population All pregnant women undergoing invasive prenatal testing at <25 weeks' gestation from 1976 to 2013. Methods Analysis of three state‐wide data sets: (1) Prenatal diagnosis data set of 119 404 amniocenteses and chorionic villus samplings from 1976 to 2013; (2) central serum screening laboratory data set from 1996 to 2013; (3) government birth statistics from 1976 to 2013. Main outcome measures Annual numbers and uptake rates of invasive prenatal tests and serum screening, indications for invasive prenatal testing, prenatal diagnoses of aneuploidy, diagnostic yield of invasive tests. Results Annual numbers of invasive prenatal tests climbed steadily from 1976, then declined from 2000. In 2013, the number of invasive prenatal tests was the lowest in 25 years, while the number of trisomy 21 diagnoses was the highest ever recorded. Annual uptake of serum screening climbed from 1.6 to 83% over 1996–2013. Results from 2013 showed a high diagnostic yield (15.8%) for a low rate of invasive testing (3.4% of births). Over four decades, the number of invasive procedures performed for each diagnosis of major chromosome abnormality declined from 100 to six. Conclusions This study demonstrates historic reductions in the proportion of women undergoing invasive testing and dramatic improvements in diagnostic yield. Monitoring the impact of new prenatal technologies on this progress remains an important research priority. Tweetable abstract Invasive prenatal testing has reached historic lows due to dramatic improvements in Down syndrome screening.

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“…We nevertheless feel that, despite of its limitations, early anatomy ultrasound certainly has a great potential in the diagnosis of fetal anomalies in the first and early second trimester of pregnancy. In combination with the recent developments in cell free fetal DNA testing in maternal blood, early anatomy ultrasound offers expecting mothers and fetal medicine specialists the possibility of more advanced noninvasive fetal testing early in pregnancy …”

Section: Discussionmentioning

confidence: 99%