Use of fluorescencein situ hybridization to detect trisomy 18 in the direct preparation of a chorionic villus biopsy

1992 ◽  
Vol 12 (11) ◽  
pp. 974-975
Author(s):  
Vicki Murtif Park ◽  
Avirachan T. Tharapel ◽  
Sherman Elias
Keyword(s):  
Chorionic Villus ◽  
Trisomy 18 ◽  
Fluorescencein Situ Hybridization ◽  
Direct Preparation ◽  
Chorionic Villus Biopsy

Rapid detection of aneuploidy in uncultured chorionic villus cells using fluorescencein situ hybridization

1993 ◽  
Vol 13 (4) ◽  
pp. 233-238 ◽  
Author(s):  
P. Nagesh Rao ◽  
Rosa Hayworth ◽  
Kelly Cox ◽  
Frank Grass ◽  
Mark J. Pettenati
Keyword(s):  
Rapid Detection ◽  
Chorionic Villus ◽  
Fluorescencein Situ Hybridization

Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T>G

2007 ◽  
Vol 30 (3) ◽  
pp. 404-404 ◽  
Author(s):  
R. Pettman ◽  
T. Hurley ◽  
J. Addis ◽  
B. Robinson ◽  
H. Scott ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Mtdna Mutation ◽  
Chorionic Villus Biopsy

scholarly journals INCREASED NUCHAL TRANSLUCENCY IN A FETUS WITH A NORMAL KARYOTYPE: CASE REPORT

2019 ◽  
Vol 2 (1) ◽  
pp. 59-61
Author(s):  
Cristina Moisei ◽  
Anca Lesnica ◽  
Romina Marina Sima ◽  
Liana Pleș
Keyword(s):  
Chorionic Villus ◽  
Normal Karyotype ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Chorionic Villus Sampling ◽  
Increased Risk ◽  
First Trimester Ultrasound ◽  
Increased Nuchal Translucency

Nuchal translucency (NT) is the normal fluid filled subcutaneous space measured at the back of the fetal neck measured in the late first trimester and early second trimester. Nuchal translucency screening can detect approximately 80% of fetuses with Down syndrome and other major aneuploidies with a rate of 5% of false positive results, but the merger of the NT screening with β-hCG and PAPP-A testing increases the detection rate to 90%. We present the case of a fetus with a NT of 49 mm detected at the first trimester ultrasound morphologic exam. The Kryptor test revealed a 1:35 risk for Trisomy 13 and 1:721 for Trisomy 18. We report the case of an investigated pregnancy with a NT of 49 mm detected at the first trimester ultrasound exam, with a risk of 1:35 for Trisomy 13 and 1:721 for Trisomy 18 calculated at the Kryptor test. A chorionic villus sampling was recommended and performed with a result of 46XY normal karyotype. The particularity of this case is represented by the increased nuchal translucency as well as an increased risk for trisomy 13 and 18 in a normal karyotype fetus that had a normal development in the second and third trimester with no pregnancy complications arising.

Preimplantation diagnosis: Preimplantation diagnosis or chorionic villus biopsy? Women's attitudes and preferences

1993 ◽  
Vol 8 (12) ◽  
pp. 2192-2196 ◽  
Author(s):  
Zofia Miedzybrodzka ◽  
Allan Templeton ◽  
John Dean ◽  
Neva Haites ◽  
Jill Mollison ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Preimplantation Diagnosis ◽  
Chorionic Villus Biopsy

Transabdominal Chorionic Villus Biopsy in Second and Third Trimesters of Pregnancy to- Determine Fetal Karyotype

1989 ◽  
Vol 44 (8) ◽  
pp. 614-615
Author(s):  
L. PIJPERS ◽  
M. G. J. JAHODA ◽  
A. REUSS ◽  
J. W. WLADIMIROFF ◽  
E. S. SACHS
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Biopsy ◽  
Fetal Karyotype

scholarly journals Intrauterine death in singleton pregnancies with trisomy 21, 18, 13 and monosomy X

2016 ◽  
Vol 62 (2) ◽  
pp. 162-170 ◽  
Author(s):  
Vanessa Vigna Goulart ◽  
Adolfo Wenjaw Liao ◽  
Mario Henrique Burlacchini de Carvalho ◽  
Maria de Lourdes Brizot ◽  
Rossana Pulcineli Vieira Francisco ◽  
...  
Keyword(s):  
Fetal Death ◽  
Fetal Echocardiography ◽  
Chorionic Villus ◽  
Chromosome 21 ◽  
Intrauterine Death ◽  
Monosomy X ◽  
Chorionic Villus Biopsy ◽  
Obstetric Clinic ◽  
De Medicina ◽  
Singleton Pregnancies

Summary A retrospective study from November 2004 to May 2012, conducted at the Obstetric Clinic of Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HC-FMUSP), which included 92 singleton pregnancies with prenatal diagnosis of trisomy of chromosome 21 (T21), 18, 13 (T13/18) and monosomy X (45X), with diagnosis performed until the 26th week of pregnancy. The aim of the study was to describe the frequency and to investigate predictors of spontaneous fetal death (FD). Diagnosis (T21, n=36; T13/18, n=25; 45X, n=31) was made at a mean gestational age of 18.3±3.7 weeks, through chorionic villus biopsy (n=22,24%), amniocentesis (n=66, 72%) and cordocentesis (n=4, 4%). Major malformations were present in 45 (49%); with hydrops in 32 (35%) fetuses, more frequently in 45X [n=24/31, 77% vs. T21 (n=6/36, 17%) and T13/18 (n=2/25, 8%), p<0.001]. Specialized fetal echocardiography was performed in 60% (55/92). Of these, 60% (33/55) showed changes in heart morphology and/or function. Fetuses with T13/18 had a higher incidence of cardiac anomalies [60 vs. 25% (T21) and 29% (45X), p= 0.01]. FD occurred in 55 (60%) gestations, being more frequent in 45X [n=26/31, 84% vs. T21 (n=13/36, 36%) and T13/18 (n=16/25, 64%), p<0.01]. Stepwise analysis showed a correlation between hydrops and death in fetuses with T21 (LR= 4.29; 95CI=1.9-8.0, p<0.0001). In fetuses with 45X, the presence of echocardiographic abnormalities was associated with lower risk of FD (LR= 0.56; 95CI=0.27- 0.85, p=0.005). No predictive factors were identified in the T13/18 group. Intra- uterine lethality of aneuploid fetuses is high. Occurrence of hydrops increases risk of FD in pregnancies with T21. In pregnancies with 45X, the occurrence of echocardiographic changes reduces this risk.

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