×
About 1,123 results

ALLMedicine™ Trisomy 18 Center

Research & Reviews  410 results

Hepatoblastoma in molecularly defined, congenital diseases.
https://doi.org/10.1002/ajmg.a.62767
American Journal of Medical Genetics. Part A; Nussbaumer G, Benesch M

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...

Cerebral white matter abnormalities associated with chromosome 18q duplication.
https://doi.org/10.1016/j.braindev.2022.04.004
Brain & Development; Huang J, Saint-Martin C et. al.

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...

Pediatric Trigger Digits.
https://doi.org/10.1542/pir.2020-000331
Pediatrics in Review; Prock-Gibbs H, Marshall BJ et. al.

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...

Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohort.
https://doi.org/10.1002/ajmg.a.62692
American Journal of Medical Genetics. Part A; Sandal S, Mahay SB et. al.

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...

see more →

Guidelines  7 results

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of is...
https://doi.org/10.1016/j.ajog.2021.06.079
American Journal of Obstetrics and Gynecology; , Prabhu M et. al.

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...

No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.
https://doi.org/10.1016/j.jogc.2017.06.013
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Chitayat D, Langlois S et. al.

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...

No. 262-Prenatal Screening for and Diagnosis of Aneuploidy in Twin Pregnancies.
https://doi.org/10.1016/j.jogc.2017.06.015
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Audibert F, Gagnon A

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...

Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuplo...
https://doi.org/10.1016/j.clinbiochem.2012.06.015
Clinical Biochemistry; Lepage N, Chaudhry A et. al.

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...

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...

see more →

Clinicaltrials.gov  4 results

Dynamic Compression Brace for Pectus Carinatum
https://clinicaltrials.gov/ct2/show/NCT03559244

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...

Frequency and Type of Genetic Abnormalities Found in Antenatal Corpus Callosum Malformation
https://clinicaltrials.gov/ct2/show/NCT03680651

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...

Non-Invasive Screening for Fetal Aneuploidy
https://clinicaltrials.gov/ct2/show/NCT00847990

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...

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...

see more →

News  25 results

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...

Second Prenatal Screen May Be Beneficial
https://www.medpagetoday.com/genetics/genetictesting/62481

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...

Noninvasive Prenatal Testing: Practice Boosters
https://www.mdedge.com/obgyn/article/113955/obstetrics/noninvasive-prenatal-testing-practice-boosters

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.

What We Heard This Week
https://www.medpagetoday.com/hematologyoncology/prostatecancer/59424

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...

see more →

Patient Education  3 results see all →