scholarly journals Prenatal diagnosis of Cantrell Pentalogy in first trimester screening: case report and review of literature

2011 ◽  
Author(s):  
Mete Ahmet Ergenoglu ◽  
A. Ozgur Yeniel ◽  
Nuri Peker ◽  
Mert Kazandi ◽  
Fuat Akercan ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
First Trimester ◽  
First Trimester Screening ◽  
Review Of Literature ◽  
Trimester Screening

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

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.

Non-compacted myocardium and foetal left isomerism as a hydrops’ aetiology

2010 ◽  
Vol 20 (2) ◽  
pp. 223-225 ◽  
Author(s):  
Ilda J. G. Rocha ◽  
Rosete M. A. N. Nogueira ◽  
Ana L. C. Carriço
Keyword(s):  
Case Report ◽  
Trisomy 21 ◽  
Septal Defect ◽  
First Trimester ◽  
First Trimester Screening ◽  
Cardiac Malformation ◽  
Foetal Death ◽  
Left Isomerism ◽  
Increased Risk ◽  
Trimester Screening

AbstractWe present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foetal hydrops associated with cardiac malformation was detected by routine scan. Foetal echocardiogram revealed a complete auriculoventricular septal defect, non-compacted myocardium, and a bradycardia of 70–90 beats per minute, which lead to the suspicion of left isomerism. Foetal death occurred at 20 weeks and 3 days. Autopsy was consistent with the prenatal diagnosis.

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