Impact of the introduction of Non-invasive prenatal genetic testing on invasive tests: A single-center study in Japan

2017 ◽  
Vol 57 (1) ◽  
pp. 35-36
Author(s):  
Masaki Sekiguchi ◽  
Aiko Sasaki ◽  
Seiji Wada ◽  
Nobuaki Ozawa ◽  
Haruhiko Sago
Keyword(s):  
Genetic Testing ◽  
Single Center ◽  
Prenatal Genetic Testing ◽  
Non Invasive ◽  
Single Center Study ◽  
Center Study

Pregnant women's preferences for prenatal genetic testing: A single‐center study in Japan

2020 ◽  
Vol 46 (10) ◽  
pp. 1972-1976
Author(s):  
Megumi Shibata ◽  
Rina Akaishi ◽  
Aiko Sasaki ◽  
Kohei Ogawa ◽  
Miyuki Nishiyama ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Single Center ◽  
Prenatal Genetic Testing ◽  
Single Center Study ◽  
Women’S Preferences ◽  
Center Study

scholarly journals Fetal ciliopathies: a retrospective observational single-center study

2021 ◽  
Author(s):  
Corinna Simonini ◽  
Anne Floeck ◽  
Brigitte Strizek ◽  
Andreas Mueller ◽  
Ulrich Gembruch ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Heart Defects ◽  
Joubert Syndrome ◽  
Prenatal Ultrasound ◽  
Single Center ◽  
Bardet Biedl Syndrome ◽  
Single Center Study ◽  
Renal Abnormalities ◽  
Center Study ◽  
Ultrasound Features

Abstract Purpose Report on the diagnosis of prenatally suspected multisystem ciliopathies in a single center between 2002 and 2020. Methods Retrospective observational single-center study including pregnancies with prenatal ultrasound features of multisystem ciliopathies, such as hyperechogenic kidneys together with polydactyly and/or other skeletal and extraskeletal findings. Cases were compared according to their prenatal findings and outcomes. Results 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick–Kaufmann syndrome (MKKS, n = 4/36, 11.1%), Bardet–Biedl syndrome (BBS, n = 2/36, 5.5%) and Joubert syndrome (n = 1/36, 2.8%). All cases showed abnormalities of the kidneys, most often hyperechogenic parenchyma (n = 26/36, 72.2%), cystic dysplasia (n = 24/36, 66.7%), and/or bilateral kidney enlargement (n = 22/36, 61.1%). Oligohydramnios was mainly present in fetuses with MKS. Polydactyly (n = 18/36), abnormalities of the CNS (n = 25/36), and heart defects (n = 10/36) were associated in 50%, 69.4%, and 27.8%, respectively. Conclusion Prenatal detection of renal abnormalities associated with skeletal or brain abnormalities should raise the suspicion for multisystem ciliopathies. Prenatal ultrasound can help to differentiate between different diseases and pave the way for subsequent targeted genetic testing.

1655: Long-Term Functional Outcome in Orthotopic Bladder Replacement in Women: A Single Center Study

2007 ◽  
Vol 177 (4S) ◽  
pp. 549-549
Author(s):  
Hannes Steiner ◽  
Thomas Akkad ◽  
Christian Gozzi ◽  
Brigitte Springer-Stoehr ◽  
Georg Bartsch
Keyword(s):  
Functional Outcome ◽  
Single Center ◽  
Bladder Replacement ◽  
Single Center Study ◽  
Center Study

ENDOSCOPIC TREATMENT OF RECTAL NEUROENDOCRINE TUMORS IN A 12 YEAR RETROSPECTIVE SINGLE CENTER STUDY

2019 ◽  
Author(s):  
K Dąbkowski ◽  
A Białek ◽  
N Rusiniak-Rossińska ◽  
K Michalska ◽  
B Kos-Kudła ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Endoscopic Treatment ◽  
Single Center ◽  
Single Center Study ◽  
Center Study
Sign in / Sign up

Export Citation Format

Share Document