ALLMedicine™ Trisomy 18 Center

May 7th, 2022 - Trisomy 18 is an autosomal chromosomal disorder characterized by the presence of an extra 18 chromosome. In the last decades, and as novel therapeutic options emerged, a paradigm shift on the treatments available to these children occurred, establ...

Apr 29th, 2022 - Beckwith-Wiedemann spectrum, Simpson-Golabi-Behmel syndrome, familial adenomatous polyposis and trisomy 18 are the most common congenital conditions associated with an increased incidence of hepatoblastoma (HB). In patients with these genetic diso...

Apr 27th, 2022 - Chromosome 18q duplications are associated with a range of phenotypes often similar to complete trisomy 18, variably including poor growth, feeding difficulties, congenital malformations and dysmorphic facial features. Although 18q duplication pat...

Apr 2nd, 2022 - Pediatric trigger thumb (PTT) and finger (PTF) are upper extremity deformities that frequently go unrecognized by providers. Early recognition by pediatricians and caregivers is vital because PTT is successfully treated nonoperatively in more than...

Feb 23rd, 2022 - Trisomy 18 or Edward syndrome is a chromosomal disorder due to the presence of an extra chromosome 18. We describe the phenotype of five fetuses at different gestational ages, each highlighting a different aspect of trisomy 18. The clinical spectr...

Jun 26th, 2021 - Soft markers were originally introduced to prenatal ultrasonography to improve the detection of trisomy 21 over that achievable with age-based and serum screening strategies. As prenatal genetic screening strategies have greatly evolved in the las...

Sep 2nd, 2017 - 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...

Sep 2nd, 2017 - To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. The process of prenatal screening and diagnosis in twin pregnancies...

Jun 27th, 2012 - The Ontario Prenatal Screening Program (OPSP) follows internationally recognized standardized procedures for laboratories and genetics clinics. However, it has been found that some procedures are subject to interpretation, so the current procedure...

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...

Dec 4th, 2018 - Pectus carinatum (PC) is a deformity of the anterior chest wall which is a common pediatric condition, characterized by an idiopathic overgrowth of the costal cartilages resulting in protrusion of the sternum. There are two subtypes of PC: the cho...

Sep 21st, 2018 - Corpus callosum malformation (CCM) is the most frequently detected cerebral defect diagnosed in the prenatal setting. The most common CCM is corpus callosum agenesis (CCA) which is found in 2 to 3% of patients presenting with intellectual disabili...

Sep 5th, 2011 - The purpose of this study is to determine if a laboratory test developed by the Sequenom Center for Molecular Medicine (SCMM) that uses a new marker found in the mother's blood can better identify pregnancies that have a child with a chromosome ab...

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...

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...

Jan 11th, 2017 - Adding a second method of non-invasive prenatal screening improved accuracy in detecting the rate of serious birth defects, researchers said. A microarray analysis on duplicated maternal chromosomes that had been identified through whole-genome sh...

Sep 28th, 2016 - Diagnostic testing needed to confirm cfDNA results for aneuploidy and microdeletions, finds retrospective study Researchers at the David Geffen School of Medicine at the University of California-Los Angeles, found a 73. 5% positive predictive value.

Jul 29th, 2016 - "This ship has already sailed." Sam Chang, MD, responding to data from the first-ever randomized trial of robotic versus open surgery for localized prostate cancer. "I predicted the robot would prove to show no meaningful advantage over the open a...