Effectiveness of ovarian age as the background risk for aneuploidy screening in an unselected pregnant population

Abstract Purpose To evaluate the usability of first-trimester maternal serum ProBNP levels in the prediction of intrauterine growth restriction (IUGR). Methods In this prospective study, blood samples taken from 500 women who applied to our polyclinic for routine serum aneuploidy screening between the 11–14th gestational weeks were centrifuged. The obtained plasma samples were placed in Eppendorf tubes and stored at −80+°C. For the final analysis, first-trimester maternal serum ProBNP levels of 32 women diagnosed with postpartum IUGR and 32 healthy women randomly selected as the control group were compared. FGR was defined as estimated fetal weight below the 10th percentile for the gestational age. Results The mean ProBNP levels were statistically and significantly higher in the women with intrauterine growth restriction (113.73±94.69 vs. 58.33±47.70 pg/mL, p<0.01). At a cut-off level of 50.93, ProBNP accurately predicted occurrence of IUGR (AUC+= 0.794 (95% confidence interval 0.679–0.910), p+= 0.001) with sensitivity and specificity rates of 78.1 and 69.0%, respectively. Conclusion First-trimester serum ProBNP level was significantly higher in women who developed IUGR compared to healthy controls. First-trimester ProBNP level can be used as a potential marker to predict the development of IUGR in pregnant women.

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Progress and Challenges in Laboratory-Based Diagnostic and Screening Approaches for Aneuploidy Detection during Pregnancy

SLAS TECHNOLOGY Translating Life Sciences Innovation ◽

10.1177/24726303211021787 ◽

2021 ◽

pp. 247263032110217

Author(s):

Lindsay Schneider ◽

Anubhav Tripathi

Keyword(s):

Sample Collection ◽

Aneuploidy Screening ◽

Preimplantation Genetic Testing ◽

Cellular Division ◽

Vitro Fertilization ◽

Genetic Abnormalities ◽

The Social ◽

Diagnostic Technologies ◽

Screening Approaches

Aneuploidy is caused by problems during cellular division and segregation errors during meiosis that lead to an abnormal number of chromosomes and initiate significant genetic abnormalities during pregnancy or the loss of a fetus due to miscarriage. Screening and diagnostic technologies have been developed to detect this genetic condition and provide parents with critical information about their unborn child. In this review, we highlight the complexities of aneuploidy as a disease as well as multiple technological advancements in testing that help to identify aneuploidy at various time points throughout pregnancy. We focus on aneuploidy diagnosis during preimplantation genetic testing that is performed during in vitro fertilization as well as prenatal screening and diagnosis during pregnancy. This review focuses on DNA-based analysis and laboratory techniques for aneuploidy detection through reviewing molecular- and engineering-based technical advancements. We also present key challenges in aneuploidy detection during pregnancy, including sample collection, mosaic embryos, economic factors, and the social implications of this testing. The goal of this review is to synthesize broad information about aneuploidy screening and diagnostic sample collection and analysis during pregnancy and discuss major challenges the field is still facing despite decades of advancements.

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