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Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child.
TLDR
Undiagnosed hypothyroidism in pregnant women may adversely affect their fetuses; therefore, screening for thyroid deficiency during pregnancy may be warranted.
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.
Cigarette smoking and serum lipid and lipoprotein concentrations: an analysis of published data.
TLDR
The dose response effect of smoking on serum cholesterol concentration suggests a gradient of increased absolute risk of coronary artery disease between light and heavy smokers.
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
TLDR
In this supplementary review, Lynch syndrome refers to individuals with a predisposition to CRC and certain other malignancies as a result of a germline mismatch repair (MMR) gene mutation—including those with an existing cancer and those who have not yet developed cancer.
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.
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group
TLDR
The EGAPP processes are described and the specific methods and approaches used by the EWG are described, which include an independent, non-federal Working Group, a multidisciplinary expert panel, and a systematic review of evidence.
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Maternal thyroid deficiency and pregnancy complications: implications for population screening
TLDR
From the second trimester onward, the major adverse obstetrical outcome associated with raised TSH in the general population is an increased rate of fetal death, which would be another reason to consider population screening.
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 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.
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