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First-trimester or second-trimester screening, or both, for Down's syndrome.
TLDR
First-trimester combined screening at 11 weeks of gestation is better than second- Trimester quadruple screening but at 13 weeks has results similar to second- trimester quadruples screening.
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
TLDR
Among high-risk pregnancies, sequencing circulating cell–free DNA detects nearly all cases of Down syndrome,trisomy 18, and trisomy 13, at a low false-positive rate, and evidence supports clinical testing for these aneuploidies.
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
TLDR
Measurement of circulating cell-free DNA in maternal plasma DNA detects nearly all cases of Down syndrome at a very low false-positive rate, and can substantially reduce the need for invasive diagnostic procedures and attendant procedure-related fetal losses.
Quad Screen as a Predictor of Adverse Pregnancy Outcome
TLDR
The data suggest that components of the quad screen may prove useful in predicting adverse obstetric outcomes and showed that the total number and specific combinations of abnormal markers are most useful in Predicting the risk of adverse perinatal outcome.
Dna Sequencing of Maternal Plasma to Detect Down Syndrome: An International Clinical Validation Study
TLDR
Measureting maternal plasma DNA in a large cohort of high-risk pregnancies can identify nearly all cases of Down syndrome at a very low false-positive rate, and data from this and previous studies suggest the benefit of this test in women at high risk of Down Syndrome.
Maternal Thyroid Hypofunction and Pregnancy Outcome
TLDR
Maternal thyroid hypofunction is not associated with a consistent pattern of adverse outcomes, and there was an increased risk for preterm premature rupture of membranes when both antibodies were positive in either trimester.
Maternal serum screening for Down's syndrome in early pregnancy.
TLDR
The new screening method would detect over 60% of affected pregnancies, more than double that achievable with the same amniocentesis rate in existing programmes, and could reduce the number of children born with Down's syndrome in the United Kingdom from about 900 a year to about 350 a year.
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
TLDR
Understanding aspects of the role of fetal fraction in maternal plasma DNA testing for aneuploidy can better appreciate the power and the limitations of this impressive new methodology.
First-trimester or second-trimester screening, or both, for down's syndrome
TLDR
First-trimester combined screening at 11 weeks of gestation is better than secondtrimester quadruple screening but at 13 weeks has results similar to second-tr pregnancy quadruple screened, except for the comparison between serum integrated screening and combined screening.
Serum markers for Down's syndrome in women who have had in vitro fertilisation: implications for antenatal screening
TLDR
In Down's syndrome screening in IVF pregnancies hCG and uE3 values should be adjusted to avoid the high screen positive rate.
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