Fetal Blood Sampling

From Embryology

Introduction

See also Non-Invasive Prenatal Testing.


Diagnosis Links: Prenatal Diagnosis | Pregnancy Test | Amniocentesis | Chorionic villus sampling | Ultrasound | Alpha-Fetoprotein | Pregnancy-associated plasma protein-A | Fetal Blood Sampling | Magnetic Resonance Imaging | Computed Tomography | Non-Invasive Prenatal Testing | Fetal Cells in Maternal Blood | Preimplantation Genetic Screening | Comparative Genomic Hybridization | Genome Sequencing | Neonatal Diagnosis | Category:Prenatal Diagnosis | Fetal Surgery | Classification of Diseases | Category:Neonatal Diagnosis

Some Recent Findings

  • Noninvasive Prenatal Testing: The Future Is Now[1] "Prenatal detection of chromosome abnormalities has been offered for more than 40 years, first by amniocentesis in the early 1970s and additionally by chorionic villus sampling (CVS) in the early 1980s. ...The ability to isolate fetal cells and fetal DNA from maternal blood during pregnancy has opened up exciting opportunities for improved noninvasive prenatal testing (NIPT). Direct analysis of fetal cells from maternal circulation has been challenging given the scarcity of fetal cells in maternal blood (1:10,000-1:1,000,000) and the focus has shifted to the analysis of cell-free fetal DNA, which is found at a concentration almost 25 times higher than that available from nucleated blood cells extracted from a similar volume of whole maternal blood. There have now been numerous reports on the use of cell-free DNA (cfDNA) for NIPT for chromosomal aneuploidies-especially trisomy (an extra copy of a chromosome) or monosomy (a missing chromosome)-and a number of commercial products are already being marketed for this indication. This article reviews the various techniques being used to analyze cell-free DNA in the maternal circulation for the prenatal detection of chromosome abnormalities and the evidence in support of each."
More recent papers
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Search term: Fetal Blood Sampling

Christina Leufgen, Ulrich Gembruch, Birgit Stoffel-Wagner, Rolf Fimmers, Waltraut M Merz N-terminal pro-B-type natriuretic peptide in amniotic fluid of fetuses with known or suspected cardiac load. PLoS ONE: 2017, 12(5);e0177253 PubMed 28545116

Wenjuan Wang, Yuan Yuan, Haiqing Zheng, Yaoshen Wang, Dan Zeng, Yihua Yang, Xin Yi, Yang Xia, Chunjiang Zhu A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood. Genet Test Mol Biomarkers: 2017; PubMed 28537755

George G Buttigieg Submitting medico-legal intra-partum CTG (I-P CTG) monitoring to the Bolam and Bolitho principles. Med Leg J: 2017, 85(2);93-96 PubMed 28508731

U Tahir Mahmood, C O'Gorman, Z Marchocki, Y M O'Brien, D J Murphy Fetal scalp stimulation (FSS) versus Fetal blood sampling (FBS) for women with abnormal fetal heart rate monitoring in labor: a prospective cohort study. J. Matern. Fetal. Neonatal. Med.: 2017;1-20 PubMed 28475393

Charlotta Ingvoldstad Malmgren, Erik Iwarsson, Niklas Juth, Peter Lindgren [SFOG ger nationella riktlinjer för fosterdiagnostik med NIPT - Information, genetisk vägledning och informerat val grunden för analys av foster-DNA i blodprov från kvinnan.] Lakartidningen: 2017, 114; PubMed 28463390


Cordocentesis

Percutaneous umbilical blood sampling (PUBS, fetal blood sampling, umbilical vein sampling) This chromosome analysis test is done at in the 18th week or later of high-risk pregnancies. The technique may be used when either alternative tests (amniocentesis, CVS, ultrasound) are either inconclusive or not achievable (severe oligohydramnios).

The risk of a miscarriage related to the test is about 3 per cent (occurring in 3 in 100 pregnancies).

References

  1. Errol R Norwitz, Brynn Levy Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol: 2013, 6(2);48-62 PubMed 24466384

Reviews

Articles

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April 2010

  • Fetal Blood Sampling - All (2020) Review (267) Free Full Text (196)


Search PubMed: Fetal Blood Sampling




Prenatal Diagnosis Terms

  • ART - Assisted Reproductive Technology a general term to describe all the clinical techniques used to aid fertility.
  • blastomere biopsy - An ART preimplantation genetic diagnosis technique carried out at cleavage stage (day 3), excluding poor quality embryos, detects chromosomal abnormalities of both maternal and paternal origin. May not detect cellular mosaicism in the embryo.
  • blastocyst biopsy - An ART preimplantation genetic diagnosis technique carried out at blastocyst stage (day 4-5), removes several trophoblast (trophoderm) cells, detects chromosomal abnormalities of both maternal and paternal origin and may detect cellular mosaicism.
  • cell-free fetal deoxyribonucleic acid - (cffDNA) refers to fetal DNA circulating and isolated from the plasma portion of maternal blood.
  • false negative rate - The proportion of pregnancies that will test negative given that the congenital anomaly is present.
  • false positive rate - The proportion of pregnancies that will test positive given that the congenital anomaly is absent.
  • negative predictive value - The probability that a congenital anomaly is absent given that the prenatal screening test is negative.
  • Non-Invasive Prenatal Testing - (NIPT) could refer to ultrasound or other imaging techniques, but more frequently used to describe analysis of cell-free fetal DNA circulating in maternal blood.
  • polar body biopsy - (PB biopsy) An ART preimplantation genetic diagnosis technique that removes either the first or second polar body from the zygote. As these are generated by oocyte meiosis they detects chromosomal abnormalities only on the female genetics.
  • positive predictive value - The probability that a congenital anomaly is present given that the prenatal screening test is positive.
  • pre-implantation genetic diagnosis - (PGD, pre-implantation genetic screening) a diagnostic procedure for embryos produced through Assisted Reproductive Technology (ART, in vitro fertilisation, IVF) for genetic diseases that would generate developmental abnormalities or serious postnatal diseases.
  • prenatal screening sensitivity - (detection rate) The probability of testing positive on a prenatal screening test if the congenital anomaly is present.
  • prenatal screening specificity - The probability of testing negative on a prenatal screening test if the congenital anomaly is absent.
  • single nucleotide polymorphisms - (SNPs) the variation in a single DNA nucleotide that occurs at a specific position in the genome.
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Cite this page: Hill, M.A. 2017 Embryology Fetal Blood Sampling. Retrieved May 28, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Fetal_Blood_Sampling

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© Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G