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Editorial
. 2015 May;45(5):499-507.
doi: 10.1002/uog.14746.

Cell-free fetal DNA: the new tool in fetal medicine

T R Everett  1 , L S Chitty
Affiliations
Editorial

Cell-free fetal DNA: the new tool in fetal medicine

T R Everett et al. Ultrasound Obstet Gynecol. 2015 May.
No abstract available

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Figures

Figure 1
Figure 1
Genital ambiguity in a male fetus (a), as evidenced by amplification (arrow) of SRY sequences in cell‐free fetal DNA (cffDNA) (b), and in a female fetus (c), in which there is amplification only of the control DNA sequences (d). PCR, polymerase chain reaction; Rn, normalized reporter.
Figure 2
Figure 2
Features of campomelic dysplasia detectable on ultrasound include shortened ‘bowed’ limbs (a) and ambiguous genitalia (b).
Figure 3
Figure 3
Detection of a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene causing thanatophoric dysplasia, showing the increasing ease of interpretation between polymerase chain reaction (PCR)‐based method (a), digital PCR (b) and digital readout obtained from sequencing (c). PCR‐based method (a) relies on subjective interpretation; very faint bands for mutant alleles in affected cell‐free (cf) DNA can be seen (bottom arrows). The wild‐type (normal) allele is strongly present in all samples (upper arrow). This compares with digital PCR (b) for detection of the mutant allele c.742 C > T (blue dot) and wild‐type alleles (red dot). Each row represents one sample. Wild‐type signals are present in all samples but the mutant allele is only present in the positive control (panel 1) and test sample (panel 2). Panel 3 is the result obtained from a normal pregnancy and shows only wild‐type alleles present. The digital readout obtained from sequencing (c) reveals a very high wild‐type allele count (blue), as this represents both maternal and fetal alleles, and a lower mutant allele (pink) count, but is still very high compared with the counts for other disease‐causing mutations, indicating that the fetus has thanatophoric dysplasia as a result of the c.742 C > T mutation.
Figure 4
Figure 4
Detection of chromosomal rearrangements in cell‐free fetal DNA (cffDNA) using standard aneuploidy sequencing. A small deletion (formula image) of chromosome 2, confirmed as 46,XY,del(2) (p23p25.1), is indicated when the expected number of reads falls outside a Z‐score of ± 4 (formula image).
See this image and copyright information in PMC

References

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