The Significance Of Second Trimester Markers For Down's Syndrome

A new analysis has found that some second trimester markers for Down's syndrome that are detected by ultrasound are more telling than others. Published early online in Ultrasound in Obstetrics &Gynecology, the study's results will help adjust pregnant women's risks for having a child with the condition. Screening for Down's syndrome is offered to all pregnant women, who start out with a background risk based on their age...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Pregnancy / Obstetrics Source Type: news

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ConclusionOur observation and the review of the literature reported the possibility of very weak mosaicism and disease ‐causing confined tissue‐specific mosaicism in fetus or alive patients with chromosome 21 aneuploidy, mainly Down syndrome. In case of clinical diagnosis suggestive of Down syndrome, attention must be paid to the risk of false‐negative test due to chromosomal mosaicism (very weak percentage, d ifferent tissue distribution). To overcome this risk, it is necessary to privilege the diagnostic techniques without culture step and to increase the number of cells and tissues analyzed, if possible. This stud...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
We report a prenatally diagnosed case of de novo 4q deletion syndrome confirmed by conventional karyotyping and FISH due to an elevated combined risk for Down syndrome and prenatal ultrasound findings. aCGH validated the diagnosis and offered exact characterization of the disorder. Cytogenetic and microarray results described a 4q32.1qter terminal deletion of the fetus. Prenatal ultrasound detected multiple nonstructural findings (micrognathia, choroid plexus cysts, echogenic fetal bowel, short femur, and cardiac axis deviation). Pregnancy was terminated at 20 weeks. In addition to the index patient, we reviewed the 10 pre...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31140633 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
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
A 34-year-old primiparous woman initially was seen at 17+ weeks gestation for a fetal ultrasound scan because of an increased risk for Down syndrome that had been detected via a quad screen. The ultrasound image revealed a normal-appearing fetus coexisting with a molar pregnancy and bilateral 10-cm multicystic ovaries. A genetic amniocentesis revealed normal fetal chromosomes. Her serum human chorionic gonadotropin (hCG) level at diagnosis was 942,000 IU/L. Laboratory values were all normal, except for subclinical hyperthyroidism.
Source: American Journal of Obstetrics and Gynecology - Category: OBGYN Authors: Tags: Images in Obstetrics Source Type: research
Each year in the U.S., one in 10 babies is born prematurely. Around the world, that number is slightly higher, affecting 15 million infants annually. In a new study published in Science, researchers led by a group at Stanford University report the first steps toward a blood test that can predict which pregnancies are most likely to result in early births. Stephen Quake, professor of bioengineering and applied physics at Stanford, and his team analyzed the roughly 20,000 genes in the human genome in a group of 38 women who were at higher risk for premature delivery. Of those women, 23 ended up delivering when their babies w...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized healthytime Reproductive Health Source Type: news
Condition:   Pregnancy Intervention:   Other: Questionnaire passation Sponsor:   CHU de Reims Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
CONCLUSIONS: One should consider all possibilities before suggesting termination of a very desired pregnancy. This woman had also been advised by other specialists in reproductive endocrinology that conception with her own oocytes (as did occur here) was not possible and she should consider donor oocytes based on her marked diminished oocyte reserve. PMID: 29746018 [PubMed - in process]
Source: Clinical and Experimental Obstetrics and Gynecology - Category: OBGYN Tags: Clin Exp Obstet Gynecol Source Type: research
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