Two had combined first-trimester screening performed where one had a high-risk result for trisomy 18 and a low pregnancy-associated plasma protein-A level.
In T18 and T13 pregnancies first trimester nuchal translucency was raised, free β-human chorionic gonadotrophin (hCG) and pregnancy associated plasma protein-A reduced.
There was a significant association between serum hPGH and PAPP-A in both the euploid (r = 0.258, p = 0.006) and trisomy 21 pregnancies (r = 0.410, p = 0.030) but not in trisomy 18 pregnancies (p = 0.445).
Eleven women screened positive for trisomy 18 by first-trimester combined screening with nuchal translucency scan and maternal serum for pregnancy-associated plasma protein A (PAPP-A) and hCG between 11 and 13 + 6 weeks.
In a screening policy based on maternal age, fetal NT, FHR, serum free beta-hCG and PAPP-A, for a fixed false positive rate of 3% the standardized detection rates were 91% for trisomy 21 and 100% for trisomy 18, trisomy 13 and Turner syndrome.
To derive a model and examine the performance of first-trimester screening for trisomy 18 by maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A).
ADAM12 was correlated with PAPP-A (r = 0.1918) in the first trimester of cases with trisomy 18 but less so with NT (r = 0.1594) and free beta-hCG (r = 0.0938).
A first-trimester integrated screening approach, which incorporates nuchal translucency, nasal bone, crown-rump length, pregnancy-associated plasma protein-A, and free beta-human chorionic gonadotropin, has the potential to maximize detection rates of Down syndrome and trisomy 18 and minimizes the screen-positive rate.
Patients were evaluated for risk of Down's syndrome and trisomy 18 based on biochemistry (free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A), nuchal translucency and the combination of both.
There was however a significant association between placental protein and maternal serum PAPP-A concentrations in the normal and trisomy 21 pregnancies but not in those affected by trisomy 18.
These results indicate that rapid quantification of AFP, uE3, and hCG using cost effective and highly sensitive ODI CLEIAs in the presence of Triton X-100 can be applied as an accurate, precise, and reproducible method to diagnose genetic disorders (e.g., trisomy 18 and trisomy 21) in fetuses.
Forty-eight women screened positive for trisomy 18 by second-trimester biochemical screening with human chorionic gonadotrophin (hCG) and alpha fetoprotein (AFP).
In the first step, a 0.5 MoM cut-off for AFP or for free beta-hCG resulted in detection of 37/45 trisomy 18 cases (82%) with a 10% false-positive rate.
The association of increased levels of AFP in cases of trisomy 18 with ventral wall defects and the slight increase in AFP in cases of sex chromosomal anomalies other than Turner's syndrome was found.
In this study we examined alpha-fetoprotein (AFP) mRNA expression in fetal liver at 12-15 weeks of gestation in trisomy 21 (n = 13), trisomy 18 (n = 5) and control fetuses (n = 24).
We have demonstrated that with AFP, uE3, and hCG, a separate protocol will identify a significant portion of trisomy 18 fetuses with a minimal increase in the number of amniocenteses performed.
Our protocols diagnosed trisomy 21 in a 23-week fetus with low maternal serum AFP and a trisomy 18 in a direct chorionic villus sample 2 working days after the samples were obtained.
Fetal weight does not seem to account for the lower maternal serum alpha-fetoprotein levels seen in fetuses with Down syndrome but may partially account for the lower levels seen in fetuses with trisomy 18.
These cases could thus be subdivided into three subgroups: Group I, normal BCL2 genes (i.e., no evidence of translocation or amplification), and BCL2 protein negative; Group II, normal BCL2 genes but BCL2 protein positive; and Group III, presence of other genetic alterations, i.e., BCL2 amplification and trisomy 18, and BCL2 protein positive.
Thymic MALT lymphoma cases had a high frequency of trisomy 3 (7/14 cases), a very low incidence of trisomy 18 (1/14) and no detectable MALT1-associated (0/13) or IGH-associated (0/13) gene abnormalities including t(11;18).
Patients were classified into four groups: Group 1, isolated trisomy 12 (n=14); Group 2, trisomy 12 plus trisomy 18 (n=4); Group 3, trisomy 12 plus t(14;18) (n=8); and Group 4: patients with trisomy 12 plus other abnormalities not involving BCL2 (n=28).
Among them, only one showed a break-apart of the IgH gene and all others showed numerical abnormalities, including trisomy 18 in 7 cases (25%), 3 copies of BCL6 gene in 12 cases (43%), and 3 copies of C-MYC gene in 2 cases (7%).