Chromosomal mosaicisms in prenatal diagnosis: correlation with first trimester screening and clinical outcome

2012 ◽  
Vol 40 (3) ◽  
Author(s):  
Christel Eckmann-Scholz ◽  
Julia Mallek ◽  
Constantin S. von Kaisenberg ◽  
Norbert K. Arnold ◽  
Walter Jonat ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Outcome ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening

scholarly journals P06.17: Chromosomal mosaicisms in correlation with first trimester screening and clinical outcome

2011 ◽  
Vol 38 (S1) ◽  
pp. 188-188
Author(s):  
C. Eckmann-Scholz ◽  
J. Mallek ◽  
A. Caliebe ◽  
S. Heidemann
Keyword(s):  
Clinical Outcome ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening

Prenatal diagnosis versus first-trimester screening of trisomy 21 among pregnant women aged 35 or more

2014 ◽  
Vol 28 (6) ◽  
pp. 674-678 ◽  
Author(s):  
Tullio Ghi ◽  
Tiziana Arcangeli ◽  
Francesca Ravennati ◽  
Ginevra Salsi ◽  
Elisa Montaguti ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening

Sensitivity of multiple first trimester sonomarkers in fetal aneuploidy detection

2015 ◽  
Vol 43 (3) ◽  
Author(s):  
Pharuhas Chanprapaph ◽  
Chitnapin Dulyakasem ◽  
Buraya Phattanchindakun
Keyword(s):  
Prenatal Diagnosis ◽  
First Trimester ◽  
Trisomy 13 ◽  
Ductus Venosus ◽  
Specific Marker ◽  
First Trimester Screening ◽  
Crown Rump Length ◽  
Fetal Aneuploidy ◽  
Single Marker ◽  
Trimester Screening

AbstractMultiple first trimester aneuploidy sonomarkers have been introduced recently.To evaluate the efficacy of first trimester sonomarkers in fetal aneuploidy detection without serum markers.There were entirely 280 fetuses with 11–13+6 weeks’ gestation (crown-rump -length between 45–84 mm) enrolled to assess nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow. The performance of each single marker and multiple markers for major fetal aneuploidy screening were determined.Totally, 190 fetuses (67.85%) underwent invasive prenatal diagnosis with 14 major chromosome abnormalities identified including 4 cases of trisomy 21, 4 cases of trisomy 18, 3 cases of trisomy 13 and 3 cases of 45, XO. NT was the most accurate single marker with sensitivity of 71.43% and false-positive rate (FPR) of 4.14% while NB or TR was the most specific marker (99.6%) but lacked sensitivity. Among multiple first trimester-screening sonomarkers, NT plus TR evaluation were the most sensitive test (78.57%) with FPR of 4.76%.NT was the most accurate first trimester-screening marker for fetal aneuploidy. NT plus TR assessment as double-screening markers could improve the sensitivity by 7% leading to the lower number of unnecessary invasive prenatal diagnosis.

Sign in / Sign up

Export Citation Format

Share Document