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About 865 results

ALLMedicine™ Trisomy 13 Center

Research & Reviews  316 results

Neck Extension and Intraocular Pressure Elevation During Palatoplasty in a Patient with...
https://doi.org/10.1177/10556656221097209
The Cleft Palate-craniofacial Journal : Official Publicat... Yu J, Kim JY et. al.

Apr 28th, 2022 - Patau syndrome (trisomy 13) is a severe disorder associated with multiple systemic defects. Patau syndrome is commonly associated with ocular abnormalities but rarely associated with congenital glaucoma. To obtain a better surgical view, palatopla...

The performance of grey zone in common foetal aneuploidy screening by semiconductor seq...
https://doi.org/10.1080/01443615.2022.2039902
Journal of Obstetrics and Gynaecology : the Journal of Th... Zhang C, He Q et. al.

Apr 26th, 2022 - A total of 15,267 pregnancies were tested by NIPT in this study. Grey zone (z score: 2.58 ∼ 4 and -4∼-2.58) was set for screening out aneuploidy 21, 18 and 13. Cases with z score located in the grey zone were retested starting from DNA extraction....

Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be...
https://doi.org/10.1111/jog.15236
The Journal of Obstetrics and Gynaecology Research; Okuda T, Moroto M et. al.

Mar 25th, 2022 - We report a case of a neonatal diagnosis of Prader-Willi syndrome caused by uniparental disomy. A 34-year-old pregnant woman underwent noninvasive prenatal testing (NIPT) in a hospital that was not certified by the Japanese Association of Medical ...

Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.
https://doi.org/10.1111/pde.14949
Pediatric Dermatology; Keyes E, Larijani M et. al.

Mar 2nd, 2022 - We report the case of a 2-year-old boy with mosaic trisomy 13 and immunodeficiency who developed severe hidradenitis suppurativa beginning at the age of 18 months. Unresponsive to standard therapies, he exhibited a partial response to immunoglobul...

Morbidity and mortality following noncardiac surgical procedures among children with au...
https://doi.org/10.1111/pan.14415
Paediatric Anaesthesia; Matthews LJ, Mpody C et. al.

Feb 15th, 2022 - Trisomy 13 (T13), trisomy 18 (T18), and trisomy 21 (T21) are the most common autosomal trisomies. One unifying feature of all trisomies is their association with major congenital malformations, which often require life-prolonging surgical procedur...

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Guidelines  1 results

Prenatal screening for fetal aneuploidy in singleton pregnancies.
https://doi.org/10.1016/S1701-2163(16)34961-1
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Chitayat D, Langlois S et. al.

Jul 14th, 2011 - To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screeni...

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Clinicaltrials.gov  3 results

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
https://clinicaltrials.gov/ct2/show/NCT02381457

Jan 29th, 2021 - The primary objective is to determine in a prospective study the performance of SNP based NIPT for the 22q11.2 microdeletion (DiGeorge syndrome) in a large cohort of pregnant women clinically opting for this form of screening. Specific test perfor...

MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy
https://clinicaltrials.gov/ct2/show/NCT01122524

Oct 10th, 2011 - The primary objective of this study is to determine the performance characteristics (sensitivity and specificity) of the Verinata Health Test to detect fetal Trisomy 21 (T21) compared to karyotype results obtained by amniocentesis or chorionic vil...

Non-Invasive Determination of Fetal Chromosome Abnormalities
https://clinicaltrials.gov/ct2/show/NCT00891852

May 1st, 2009 - The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edw...

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News  24 results

Clinical Edge Journal Scan Commentary: Prenatal Testing February 2022
https://www.mdedge.com/obgyn/article/251064/prenatal-testing/clinical-edge-journal-scan-commentary-prenatal-testing
Ryan Longman, MD

Jan 24th, 2022 - Ryan Longman, MD The field of obstetrics has always aimed to optimize the ability to screen pregnancies for aneuploidy; trisomy 21, trisomy 18, and trisomy 13. A recent study by Saito et al.

Combining ultrasound examination with NIPT improves positive predictive value for trisomy 18
https://www.mdedge.com/obgyn/article/250933/prenatal-testing/combining-ultrasound-examination-nipt-improves-positive

Jan 19th, 2022 - Key clinical point: Performing a first-trimester ultrasound examination along with noninvasive prenatal testing (NIPT) led to a higher positive predictive value (PPV) for trisomy 18, which could help alleviate stress caused by a false-positive NIP.

Neglect Contributed to Young Disabled Woman's Hospital Death, Coroner Rules
https://www.medscape.com/viewarticle/949937

Apr 26th, 2021 - Editor's note, 26 April 2021: This article was updated with additional comment. SHEFFIELD—Neglect contributed to the death of a young disabled woman who developed malnutrition after going into hospital for a routine eye operation, a coroner has co...

Heart surgery halves in-hospital mortality in trisomy 13 and 18
https://www.mdedge.com/cardiology/article/151132/cardiology/heart-surgery-halves-hospital-mortality-trisomy-13-and-18
Andrew D. Bowser

Nov 5th, 2017 - For infants with trisomy 13 or trisomy 18, congenital heart surgery is associated with a significant decrease in in-hospital mortality, according to results of a large, retrospective, multicenter cohort study. In-hospital mortality was 45% lower i.

All-Time High for Obesity; Aortic Stenosis AUC; Prognosticating Cardiac Arrest
https://www.medpagetoday.com/cardiology/prevention/68676

Oct 20th, 2017 - Obesity has been a -- no pun intended -- big topic over the past week as national data emerged showing new highs in prevalence, following on the heels of research showing a 10-fold increase in childhood obesity globally since the 1970s. National H...

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Patient Education  2 results see all →