A new comprehensive paradigm for Prenatal Diagnosis.

A new comprehensive paradigm for Prenatal Diagnosis. Ultrasound Obstet Gynecol. 2018 Feb 26;: Authors: Borrell A Abstract Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability. Ideally, pregnant women should be informed of their options for prenatal testing including screening by cell-free DNA, invasive testing for karyotyping (for chromosomal anomalies), chromosomal microarray analysis (for submicroscopic anomalies), as well as carrier screening for common recessive single-gene disorders. Such a comprehensive program should be universally implemented to preserve equity and should be presented in a non-directive manner to account for personal choice, autonomy and existing resources. PMID: 29484739 [PubMed - as supplied by publisher]
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research

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(CNN) — Natalie Dedreux has spent months campaigning against a plan to make a blood test for Down syndrome free in Germany. While its proponents say the prenatal test is a safer alternative to current procedures and should be available to everyone, Dedreux believes it will lead to people like her being “sorted out.” Dedreux, a 20-year aspiring journalist from Cologne, has the condition. “I am worried that if pregnant women find out their baby has Down syndrome, they will decide against us …. because they are scared,” she wrote on her blog. She has attended protests against the plan and ...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Health News CNN Down Syndrome Source Type: news
Abstract Translocations are the most common type of structural chromosomal abnormalities. Unbalanced translocations are usually found in children who present with congenital abnormalities, developmental delay, or intellectual disability. Balanced translocations are usually found in adults who frequently present with reproductive failure; either subfertility, or recurrent pregnancy loss. Herein, we report the spectrum and frequency of translocations in a Sri Lankan cohort. A database of patients undergoing cytogenetic testing was maintained prospectively from January 2007 to December 2016 and analyzed, retrospectiv...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Conclusion
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care syndicated Source Type: blogs
Rationale: Chromosome deletion/duplication has been reported to be associated with mental disability and dysmorphism according to the accumulated research evidence. Patient concerns: A 25-year-old woman underwent amniocentesis for cytogenetic and single-nucleotide polymorphism (SNP) array analysis at 18 weeks of gestation due to the increased Down syndrome risk of 1/13. Diagnoses: The fetal chromosomal analysis revealed a seemingly “normal” chromosomal karyotype, but the SNP array results showed a partial duplication of chromosome 4q34.1q35.2 and a deletion of chromosome 7q34q36.3fluorescence in situ hy...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
AbstractChromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide. For example, the methods include a simple equation relating the percentage of mother...
Source: Journal of Community Genetics - Category: Genetics & Stem Cells Source Type: research
A 16-year-old boy attended the clinic of dentistry for patients with special needs, complaining of toothache and gingival bleeding. In the anamnesis, the person-in-charge reported that the patient-birth-related-pregnancy was complicated and the postnatal exams of the patient rendered a diagnosis of Down syndrome. The intraoral examination revealed an open bite, oval palate, absence of upper lateral incisors, and presence of conoid teeth. In addition, lesions were characterized by circular or elliptical reddish erosions, with well-defined whitish borders located on the tongue and bilateral jugal mucosa.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Tags: Oral and Maxillofacial Pathology Source Type: research
This report would examine developments at the state and federal-level, court cases, and current views from stakeholders. Policy Questions Which states have PAS laws and what do those laws provide? What protections against abuse of PAS?What have the Supreme Court and lower courts held regarding individuals’ rights under PAS laws? The laws themselves?Is there evidence that persons with disabilities are being denied treatment by insurance companies but offered PAS instead, as NCD predicted?How is PAS viewed by disability organizations? Has this evolved in the past 13 years? If so why? If not, why?Are persons with disabi...
Source: blog.bioethics.net - Category: Medical Ethics Authors: Tags: Health Care syndicated Source Type: blogs
Publication date: 24 March 2018 Source:New Scientist, Volume 237, Issue 3170 Author(s): Clare Wilson A new test for Down's syndrome during pregnancy is putting abortion on the basis of disability back into the spotlight, says Clare Wilson
Source: New Scientist - Category: Science Source Type: research
Abortions on the basis of disability are back in the spotlight thanks to a new test for Down's syndrome during pregnancy and law changes around the world
Source: New Scientist - Health - Category: Consumer Health News Source Type: research
ABSTRACT Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single‐gene, causing intellectual and neurodevelopmental disability. Ideally, pregnant...
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Editorial Source Type: research
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