Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions.
Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions. Methods Mol Biol. 2019;1885:45-58 Authors: Hui L Abstract The field of prenatal screening and diagnosis has undergone enormous progress over the past four decades. Most of this period has been characterized by gradual improvements in the technical and public health aspects of prenatal screening for Down syndrome. Compared to the direct analysis of fetal cells from amniocentesis or chorionic villus sampling, noninvasive approaches using maternal blood or ultrasound have the great advantage of posing no risk of miscarriage to the pregnancy. Recent advances in molecular genetics and DNA sequencing have revolutionized both the accuracy and the range of noninvasive testing for genetic abnormalities using cell-free DNA in maternal plasma. Many of these advances have already been incorporated into clinical care, including diagnosis of fetal blood group and aneuploidy screening. The accelerated pace of these recent developments is creating not just technical and logistical challenges, but is also magnifying the ethical and public policy issues traditionally associated with this field. PMID: 30506189 [PubMed - in process]
This randomized trial compares the effects of maternal Down syndrome screening using plasma cell-free DNA (cfDNA) measures vs invasive screening on miscarriage rates among pregnant women at high risk of trisomy 21 based on first-trimester combined screening.
ConclusionResults in our case series suggest that levodopa, rasagiline, pramipexole, and ropinirole alone or in combination with each other may be considered relatively safe during pregnancy. Expected benefits and risks should be considered when prescribing anti-PD medication in pregnant women.
CONCLUSIONS: As safety seems to affect the majority of pregnant couples' choice behaviour, thorough pre-test counselling by trained health professionals is of paramount importance. FUNDING: Aarhus University and The Foundation of 17-12-1981. TRIAL REGISTRATION: This study was registered with the Danish Data Protection Agency (1-16-02-586-13/ 2007-58-0010). PMID: 29726320 [PubMed - in process]
Pregnant women in Wales will become the first in the UK to receive a non-invasive test for Down's syndrome.
ConclusionIn a setting where reporting times are similar and there is no cost difference between options, approximately 60% of women with pregnancies classed as HR would opt for NIPT, offering simple but limited aneuploidy assessment, over a diagnostic procedure with comprehensive and more detailed assessment. Tweetable abstract60% of pregnant Chinese women prefer NIPT over CMA when screened as high risk for Down syndrome.
Navigating through the many different pre-natal blood tests can be confusing. Names like Sequential Screening, NIPT, and Carrier Screening meant nothing to me before being pregnant. As my doctor explained the different blood tests, I found myself being even more confused. I just wanted to know which blood test was the best option for my baby and me. As you enter your second trimester and prepare to take multiple blood tests, it’s best to do your research beforehand. This way you’ll know what to expect and won’t be overwhelmed by the different options. Here is a breakdown of the different blood tests: Sequ...
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Conclusions: Contrary to expectation, higher PBDE concentrations were associated with decreased odds of ASD and ID, though not in girls. These findings require confirmation but suggest potential sexual dimorphism in associations with prenatal exposure to BFRs. https://doi.org/10.1289/EHP1079 Received: 09 September 2016 Revised: 18 May 2017 Accepted: 25 May 2017 Published: 30 August 2017 Address correspondence to K. Lyall, 3200 Market St., Suite 560, A.J. Drexel Autism Institute, Philadelphia, PA 19104 USA. Telephone: (215) 571-3215. Email: email@example.com Supplemental Material is available online (https://doi.org/10...
This article is protected by copyright. All rights reserved. PMID: 28815989 [PubMed - as supplied by publisher]
This article is protected by copyright. All rights reserved