ALLMedicine™ Trisomy 13 Center

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...

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....

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 ...

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...

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...

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...

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...

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...

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...

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.

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.

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...

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.

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...