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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Are first-trimester screening markers altered in assisted reproductive technologies pregnancies?
Annegret Geipel1, Ulrich Gembruch, Christoph Berg
1Department of Obstetrics and Prenatal Medicine, University Medical School Bonn, Germany.
Current Opinion in Obstetrics & Gynecology
|March 19, 2011
Summary
First-trimester screening for trisomy 21 shows nuchal translucency measurements are reliable for assisted reproductive technology (ART) singleton and twin pregnancies. Maternal serum markers require adjustments in ART pregnancies to avoid higher false-positive rates.
Area of Science:
- Prenatal Diagnosis
- Maternal-Fetal Medicine
- Reproductive Endocrinology
Background:
- First-trimester screening is crucial for detecting fetal aneuploidies like trisomy 21.
- Assisted reproductive technologies (ART) are increasingly used for conception.
- ART pregnancies may have unique characteristics affecting screening markers.
Purpose of the Study:
- To review literature on first-trimester screening in ART singleton and twin pregnancies.
- To assess the performance of sonographic and biochemical markers in ART pregnancies.
- To identify specific challenges and recommendations for ART pregnancies.
Main Methods:
- Literature review of first-trimester screening studies.
- Analysis of sonographic markers (nuchal translucency) in ART pregnancies.
- Evaluation of biochemical markers (free β-hCG, PAPP-A) in ART pregnancies.
Main Results:
- Nuchal translucency measurements show comparable results in ART singletons and twins versus spontaneous conceptions.
- ART singletons exhibit minor nuchal translucency deviations without impacting overall screening performance.
- Maternal serum markers (free β-hCG, PAPP-A) are altered in ART pregnancies, risking higher false positives without adjustments.
- Chorionicity is a confounding factor in ART twin pregnancies, impacting screening markers but insufficiently studied.
Conclusions:
- First-trimester nuchal translucency screening performs similarly in ART and spontaneous singleton/twin gestations.
- Adjustments for maternal serum biochemistry are necessary for ART pregnancies.
- Further research on ART twin pregnancies is essential for conclusive screening strategies.

