scholarly journals Fetal ductus venosus flow velocity waveforms and maternal serum afp before and after first-trimester transabdominal chorionic villus sampling

1995 ◽  
Vol 15 (8) ◽  
pp. 699-703 ◽  
Author(s):  
Christoph Brezinka ◽  
Adriana M. Hagenaars ◽  
Juriy W. Wladimiroff ◽  
Frans J. Los
Keyword(s):  
Flow Velocity ◽  
Chorionic Villus ◽  
First Trimester ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Chorionic Villus Sampling ◽  
Before And After

FIRST AND SECOND TRIMESTER SONOGRAPHIC SCREENING FOR FETAL DOWN SYNDROME

2011 ◽  
Vol 22 (1) ◽  
pp. 45-66
Author(s):  
JULIA UNTERSCHEIDER ◽  
FERGAL D MALONE
Keyword(s):  
Down Syndrome ◽  
Screening Method ◽  
Chorionic Villus ◽  
Nasal Bone ◽  
First Trimester ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Chorionic Villus Sampling ◽  
Detection Rates ◽  
Fetal Nasal Bone

Screening for Down syndrome is an important part of routine antenatal care and should be made available, if requested, after appropriate counselling including risks and benefits, to all pregnant women, regardless of maternal age. Prenatal screening for fetal Down syndrome and other aneuploidies has advanced significantly since its advent in the 1980s. Historically, women 35 years or older were offered prenatal genetic counselling and the option of a diagnostic test such as chorionic villus sampling or amniocentesis. With this screening approach only 20% to 30% of the fetal Down syndrome population are detected antenatally. Sonographic and maternal biochemical markers are now used in combination to screen for aneuploidies in the first and second trimesters. The most common screening method in the first trimester combines the maternal serum markers HCG and PAPP-A with the sonographic evaluation of fetal nuchal translucency thickness. Newer markers have been proposed to further refine the risk assessment for Down syndrome to maximise detection rates and minimise false positive rates. These newer first trimester markers include sonographic assessment of the fetal nasal bone (NB), the frontomaxillary facial (FMF) angle, ductus venosus (DV) Doppler and tricuspid valve regurgitation (TR).

Easurements of placental, decidual, and fetal proteins before and after chorionic villus sampling

1988 ◽  
Vol 8 (5) ◽  
pp. 387-391 ◽  
Author(s):  
I. Stabile ◽  
R. Warren ◽  
C. Rodeck ◽  
J. G. Grudzinskas
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Before And After

Chorionic villus sampling: First trimester prenatal diagnosis

1986 ◽  
Vol 53 (6) ◽  
pp. 747-759 ◽  
Author(s):  
Allan T. Bombard ◽  
Joe Leigh Simpson ◽  
Sherman Elias ◽  
Alice O. Martin
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling

scholarly journals Gene Expression in First Trimester Preeclampsia Placenta

2010 ◽  
Vol 13 (2) ◽  
pp. 134-139 ◽  
Author(s):  
Sandra A. Founds ◽  
Lauren A. Terhorst ◽  
Kirk P. Conrad ◽  
W. Allen Hogge ◽  
Arun Jeyabalan ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling ◽  
Qrt Pcr ◽  
Individualized Care ◽  
Additional Control ◽  
Polymerase Chain ◽  
The Difference

Background. The goal of this study was to further validate eight candidate genes identified in a microarray analysis of first trimester placentas in preeclampsia. Material and method. Surplus chorionic villus sampling (CVS) specimens of 4 women subsequently diagnosed with preeclampsia (PE) and 8 control women (C) without preeclampsia analyzed previously by microarray and 24 independent additional control samples (AS) were submitted for confirmatory studies by quantitative real-time polymerase chain reaction (qRT-PCR). Results. Downregulation was significant in FSTL3 in PE as compared to C and AS (p = .04). PAEP was downregulated, but the difference was only significant between C and AS (p = .002) rather than between PE and either of the control groups. Expression levels for CFH, EPAS1, IGFBP1, MMP12, and SEMA3C were not statistically different among groups, but trends were consistent with microarray results; there was no anti-correlation. S100A8 was not measurable in all samples, probably because different probes and primers were needed. Conclusions. This study corroborates reduced FSTL3 expression in the first trimester of preeclampsia. Nonsignificant trends in the other genes may require follow-up in studies powered for medium or medium/large effect sizes. qRT-PCR verification of the prior microarray of CVS may support the placental origins of preeclampsia hypothesis. Replication is needed for the candidate genes as potential biomarkers of susceptibility, early detection, and/or individualized care of maternal—infant preeclampsia.

scholarly journals Impact of Ductus Venosus Assessment in Screening Down Syndrome Protocols: An Improved Strategy in a Fetal Medicine Unit

2009 ◽  
Vol 3 (2) ◽  
pp. 10-17 ◽  
Author(s):  
Mónica Echevarria ◽  
Carmen Comas ◽  
M Angeles Rodríguez ◽  
Joan Nicolau ◽  
Bernat Serra ◽  
...  
Keyword(s):  
Down Syndrome ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Serum Biochemistry ◽  
Screening Strategy ◽  
Maternal Serum ◽  
Ductus Venosus ◽  
Early Evaluation ◽  
Invasive Test ◽  
Screening Efficiency

ABSTRACT Objective To estimate the improvement in screening efficiency when ductus venosus (DV) Doppler studies are added to existing Down syndrome (DS) screening protocols. Methods First-trimester combined screening for trisomy 21 was prospectively carried out, from October 2003 to March 2008, in 8842 consecutive singleton pregnancies attended in our tertiary reference center. The nuchal translucency (NT) and the pulsatility index for veins for DV were calculated. The maternal serum biochemistry was measured using the Kryptor analyzer, at the same time of the scan (one step strategy) or before it (two step strategy). The detection rate (DR) and false-positive rates for standard screening strategy (maternal age, NT and biochemistry) and the same strategy but including DV assessment were calculated. Results Successful DV assessment was possible in the 95.3% of cases, representing a total of 8426 cases. Down syndrome was identified in 34 pregnancies (prevalence of DS 1:250). For a fixed screen positive rate of 5%, the addition of the DV assessment improves the DR from 85 to 94% and, for a fixed DR of 85%, it reduces the number of unnecessary invasive tests from 3.7 to 3.2%. Conclusion Early evaluation of DV can be introduced to standard DS screening strategies in experienced centers as a first level test to reduce invasive test rate derived from the existing protocols.

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.

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

Umbilical artery velocity waveforms before and after chorionic villus sampling

1994 ◽  
Vol 14 (9) ◽  
pp. 799-802 ◽  
Author(s):  
Rosa Maria Ibba ◽  
Giovanni Monni ◽  
Giovanni Olla ◽  
Antonio Cao
Keyword(s):  
Umbilical Artery ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Before And After
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