Screening for Fetal Chromosomal Abnormalities with Nuchal Translucency Measurement in the First Trimester

2006 ◽  
Vol 21 (4) ◽  
pp. 355-359 ◽  
Author(s):  
Recep Has ◽  
İbrahim Kalelioglu ◽  
Hayri Ermis ◽  
Lemi Ibrahimoglu ◽  
Atil Yuksel ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Nuchal Translucency Measurement

scholarly journals The Use of Ultrasound as a Potential Adjunct to Cell-Free Fetal DNA Screening for Aneuploidy at Weill Cornell Medical College, New York, USA

2018 ◽  
Vol 04 (01) ◽  
pp. e1-e6
Author(s):  
Jessica Scholl ◽  
Stephen Chasen
Keyword(s):  
New York ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Fetal Abnormality ◽  
Medical College ◽  
Autosomal Trisomy ◽  
Cell Free Fetal Dna ◽  
Nuchal Translucency Measurement ◽  
First Trimester Ultrasound

Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). Study Design We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. Results There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30.2%) had a thickened nuchal translucency. There were an additional four fetuses with second-trimester sonographic abnormalities. Overall, 23 (53.5%) fetuses were found to have a major anomaly diagnosed by ultrasound. The rate of first-trimester sonographic abnormalities varied widely based on category of chromosomal abnormalities with high rates seen with triploidy (87.5%) and autosomal trisomy (80%) and lower rates seen with structurally abnormal chromosomes (33.3%), trisomy mosaicism (27.3%), other forms of mosaicism (11.1%), and deletions or duplications (25.0%), p < 0.001. Conclusion The majority of fetuses with uncommon chromosomal abnormalities in our cohort had major sonographic anomalies. The use of first-trimester ultrasound with nuchal translucency measurement may offer utility in identifying fetuses with risk of aneuploidy that would not be detectable with cfDNA.

scholarly journals Laboratory options for risk assessment of pregnancy pathologies

2019 ◽  
pp. S415-S425
Author(s):  
A. Kestlerová ◽  
L Krofta ◽  
A. Žufić ◽  
K. Hamplová Běhávková ◽  
J. Račko ◽  
...  
Keyword(s):  
Fetal Heart ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Placental Growth Factor ◽  
Third Trimester ◽  
The Third ◽  
Placental Dysfunction ◽  
Immunological Markers ◽  
Pathological Conditions

The most effective method of screening for chromosomal abnormalities and evaluating the risk of pregnancy pathologies in the first trimester is combined screening. The algorithm of screening is based on the combination of maternal age, measuring of the nuchal translucency and the fetal heart rate and analysis of the placental products of free ß-hCG and PAPP-A. For the screening of preeclampsia, placental growth factor (PlGF) is added. To distinguish between preeclampsia and other pathologies caused by placental dysfunction it is recommended to also extend the screening with selected immunological markers. We concluded that elevated biochemical and immunological markers can help to predict the threat of preeclampsia in the third trimester. Some markers can probably predict the development of particularly severe pathological conditions.

Sign in / Sign up

Export Citation Format

Share Document