New insights into leading cause of miscarriage, birth defects discovered

(Northwestern University) Ten to 25 percent of human embryos contain the wrong number of chromosomes, resulting in miscarriage or birth defects such as Down syndrome. The incidence of these errors rises dramatically as women age. Two recent Northwestern University studies shed new light on the mystery of the leading cause of birth defects and miscarriage, laying the foundation for further research in an understudied but crucially important field of genetic study.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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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 t...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
CONCLUSIONS: The present report generated reliable data concerning the prevalence of major CAs in JECS. PMID: 30249945 [PubMed - as supplied by publisher]
Source: Journal of Epidemiology - Category: Epidemiology Tags: J Epidemiol Source Type: research
Abstract Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to diagnostic genome laboratories ("one test fits all"). Here, we provide an estimate for the proportion of clinically relevant aberrations identified by light microscopy in postnatal referrals that would go undetected by WGS. To this end, we compiled the clinically relevant abnormal ...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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.
Source: JAMA - Category: General Medicine Source Type: research
Authors: Wilch ES, Morton CC Abstract Chromosomal translocations, rearrangements involving the exchange of segments between chromosomes, were documented in humans in 1959. The first accurately reported clinical phenotype resulting from a translocation was that of Down syndrome. In a small percentage of Down syndrome cases, an extra 21q is provided by a Robertsonian translocation chromosome, either occurring de novo or inherited from a phenotypically normal parent with the translocation chromosome and a balanced genome of 45 chromosomes. Balanced translocations, including both Robertsonian and reciprocal translocati...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
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.
Source: Journal of Neurology - Category: Neurology Source Type: research
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]
Source: Danish Medical Journal - Category: General Medicine Tags: Dan Med J Source Type: research
Pregnant women in Wales will become the first in the UK to receive a non-invasive test for Down's syndrome.
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
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.
Source: BJOG: An International Journal of Obstetrics and Gynaecology - Category: OBGYN Authors: Tags: Original Article Source Type: research
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...
Source: Cord Blood News - Category: Perinatology & Neonatology Authors: Tags: pregnancy Source Type: blogs
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