1. Cell-free fetal DNA and maternal serum analytes for monitoring embryonic and fetal status 
Joe Leigh Simpson, M.D. 
Fertility and Sterility 
Volume 99, Issue 4, Pages (March 2013)
DOI: /j.fertnstert
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2. Figure 1
Detecting trisomy 21 in twins by massive parallel genomic sequencing. Circles designate values in twin gestations in which one fetus has Down syndrome; diamonds represent pregnancies in which both twins euploid; and the dashed line distinguishes those with additional chromosome 21 transcripts from euploid pregnancies. Experience of January to October 2012 in 1,372 pregnancies. FQA = fetal quantifier assay; PRERUN = parametrized error removal and unbiased normalization.
Reproduced with permission from Sequenom Center for Molecular Medicine.
Fertility and Sterility  , DOI: ( /j.fertnstert )
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3. Figure 2
Verinata (Redwood City, CA) approach using massively parallel sequencing normalized chromosome values to detect trisomies for chromosomes 21, 18, and 13. Circles display classifications for chromosome 21; squares display classifications for chromosome 18; and triangles display classifications for chromosome 13. Unclassified samples with trisomy karyotypes have been circled.
Reproduced with permission from Bianchi et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:1–12 (33).
Fertility and Sterility  , DOI: ( /j.fertnstert )
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4. Figure 3
Targeted sequencing for specific chromosomes. Approach of Ariosa (San Jose, CA): (A) first trimester results in a low-risk population of 2,049 women. All 10 trisomy 21 cases were detected. The false-positive rate was 4.5%. Data from Ashoor et al. (37): (B) detection rate after taking into account percentage fetal cell-free DNA fraction and maternal age. Clear distinction is evident between the 10 trisomy 21 cases (squares, >99% likelihood) and almost all non-trisomy cases (diamonds, <0.01% likelihood).
Courtesy of Dr. Ken Song (Ariosa, San Jose, CA).
Fertility and Sterility  , DOI: ( /j.fertnstert )
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5. Figure 4
Targeted sequence approach of Natera (San Carlos, CA) (35, 36), as applied by Zimmermann et al. (40). Data presented in a simplified fashion as plots depicting the ratios of the two most likely alleles, labeled as A and B. Note that this is not how the algorithm makes ploidy calls, but is one method for visualizing the data. X-axes: linear SNP position along each chromosome, as indicated above the plots. Fetal and maternal genotypes are indicated to the right. Each spot represents the sum of maternal and fetal cfDNA A allele read proportion. Red, maternal AA alleles; blue, maternal BB alleles; and green, maternal AB alleles. (A) The typical pattern depicting euploidy on chromosome 18. The center trio of green clusters and presence of two red and two blue peripheral clusters indicate the presence of two chromosomes. (B) The typical pattern depicting trisomy. This plot depicts a single trisomic chromosome 21. The peripheral clusters are largely unaffected. However, the center trio of clusters has condensed into a duo of clusters. Together, this indicates the presence of three chromosomes. (C) The typical pattern depicted trisomy. This plot depicts a single copy of chromosomes X. The red and blue peripheral clusters not associated with the upper and lower limits of the plot are absent, and the center trio of clusters has condensed into a duo of clusters.
Courtesy of Dr. Matthew Rabinowitz (Natera, San Carlos, CA).
Fertility and Sterility  , DOI: ( /j.fertnstert )
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6. Figure 5
Rare Cells Diagnostics (Paris, France) method for non-invasive prenatal diagnosis through isolation by size of epithelial tumor/trophoblastic cells (ISET). Single-cell short tandem repeat (STR) genotyping was performed using STR markers, defined as informative by analyzing paternal and maternal DNA extracted from blood. Fetal cells were then identified through a presence of a paternal allele. H and E= hematoxylin and eosin; MC = maternal cell; TC = trophoblastic cell.
Reproduced with permission from Mouaiwa et al. Circulating trophoblastic cells provide genetic diagnosis in 63 fetuses at risk for cystic fibrosis or spinal muscular atrophy. Reprod Biomed Online 2012;25;508–20 (51).
Fertility and Sterility  , DOI: ( /j.fertnstert )
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