scholarly journals VP30.03: Prevalence of multiple fetal soft markers on ultrasound at 16 +0 –24 +6 weeks and their association with fetal aneuploidies

2021 ◽  
Vol 58 (S1) ◽  
pp. 221-221
Author(s):  
A. Konin ◽  
D. Poojary ◽  
A. Hosmani ◽  
P. Radhakrishnan
Keyword(s):  
Fetal Aneuploidies

Is there a Need for Own Median Calculation in the Second Trimester Biochemical Markers Screening?

2017 ◽  
Vol 68 (5) ◽  
pp. 1070-1072
Author(s):  
Dan Navolan ◽  
Mirela Nicolov ◽  
Simona Vladareanu ◽  
Ioana Ciohat ◽  
Marius Craina ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Gestational Age ◽  
Biochemical Markers ◽  
Biochemical Marker ◽  
Second Trimester ◽  
Established Method ◽  
Crown Rump Length ◽  
The Difference ◽  
Fetal Aneuploidies ◽  
Singleton Pregnancies

Screening of fetal aneuploidies in early pregnancy is a well-established method in the materno-fetal medicine. The aim of our study was to analyze if the medians recommended by the manufacturers are adequate to perform an accurate screening or if there is a need for own laboratory medians calculation in second trimester biochemical marker screening.Sera were collected between 14 wp and 22 wp from 3374 singleton pregnancies. We analyzed three second trimester biochemical markers (AFP, hCG and free Estriol) concentration in all pregnant women and in a subgroup of pregnant women in which gestational age was determined based on crown-rump length. Our results showed that for all biochemical markers the difference between the manufacturer and the own calculated median was lower than 10% excepting the hCG value in the group of pregnant women in which the gestational age was determined on basis of crown-rump-length. Our results show it is recommended to replace the values of the median for hCG measurement with the own laboratory calculated medians. This does not seem to be necessary in the case of AFP and free Estriol measurement.

scholarly journals Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

2021 ◽  
Vol 38 (3) ◽  
pp. 727-734
Author(s):  
Jiexia Yang ◽  
Yaping Hou ◽  
Fangfang Guo ◽  
Haishan Peng ◽  
Dongmei Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Sex Chromosome ◽  
Southern China ◽  
Prenatal Testing ◽  
Clinical Genetic ◽  
Fetal Sex ◽  
Sequencing Platform ◽  
Cell Free Fetal Dna ◽  
Fetal Aneuploidies

Abstract Background Noninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies (SCAs). However, there is less information on the performance of NIPT in detecting SCAs. Methods A cohort of 47,800 pregnancies was recruited to review the high-risk NIPT results for SCAs. Cell-free fetal DNA (cffDNA) was extracted and sequenced. All NIPT high-risk cases were recommended to undergo invasive prenatal diagnosis for karyotyping analysis and chromosome microarray analysis (CMA). Results A total of 238 high-risk cases were detected by NIPT, including 137 cases of 45,X, 27 cases of 47,XXX, and 74 cases of 47,XYY/47,XXY. Prenatal diagnosis, including karyotyping analysis and CMA, was available in 170 cases. The positive predictive value (PPV) was 30.00% for 45,X, 70.58% for 47,XXX, and 81.13% for 47,XYY/47,XXY. In addition, 13 cases of sex chromosome mosaicism and 9 cases of sex chromosome CNVs were incidentally found in this study. Conclusion Our study showed that NIPT was reliable for screening SCAs based on a large sample, and it performed better in predicting sex chromosome trisomies than monosomy X. Our study will provide an important reference for clinical genetic counseling and further processing of the results.

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Common Causes ◽  
Future Challenges ◽  
Neurodevelopmental Impairment ◽  
Fetal Aneuploidies ◽  
Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

scholarly journals Four years experience of first-trimester nuchal translucency screening for fetal aneuploidies with increasing regional availability

2001 ◽  
Vol 80 (12) ◽  
pp. 1104-1109 ◽  
Author(s):  
Kornélia Wayda ◽  
Attila Keresztúri ◽  
Hajnalka Orvos ◽  
Emese Horváth ◽  
Attila PÁl ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Aneuploidies

Fetal Aneuploidies

2017 ◽  
pp. 211-235
Author(s):  
Victor Bunduki ◽  
Marcelo Zugaib
Keyword(s):  
Fetal Aneuploidies

Fetal Aneuploidies*

2015 ◽  
pp. 31-59
Author(s):  
Petya Chaveeva ◽  
Maria Agathokleous ◽  
Kypros H Nicolaides
Keyword(s):  
Fetal Aneuploidies

scholarly journals NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
Martin Sauk ◽  
Olga Žilina ◽  
Ants Kurg ◽  
Eva-Liina Ustav ◽  
Maire Peters ◽  
...  
Keyword(s):  
Software Package ◽  
Fetal Aneuploidies

Pregnant women at risk for fetal aneuploidies are affected by a variety of factors when deciding whether to undergo amniocentesis

2003 ◽  
Vol 29 (5) ◽  
pp. S133-S134
Author(s):  
J. Blackstone ◽  
M. Carpenter ◽  
R. Chard ◽  
A. Cartin ◽  
M.G. Pinette ◽  
...  
Keyword(s):  
At Risk ◽  
Pregnant Women ◽  
Fetal Aneuploidies

scholarly journals Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

2015 ◽  
Vol 23 (10) ◽  
pp. 1286-1293 ◽  
Author(s):  
Baran Bayindir ◽  
Luc Dehaspe ◽  
Nathalie Brison ◽  
Paul Brady ◽  
Simon Ardui ◽  
...  
Keyword(s):  
Prenatal Testing ◽  
Analysis Pipeline ◽  
Noninvasive Prenatal Testing ◽  
Fetal Aneuploidies
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