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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Modified multiple marker aneuploidy screening as a primary screening test for preeclampsia.
Tianhua Huang1,2,3, H Melanie Bedford4,5, Shamim Rashid4
1Genetics Program, North York General Hospital, 4001 Leslie Street, Toronto, ON, M2K 1E1, Canada. tianhua.huang@nygh.on.ca.
First trimester screening using maternal characteristics with pregnancy-associated plasma protein-A (PAPP-A) and placental growth factor (PlGF) can identify early-onset preeclampsia (PE). This method is less accurate for predicting gestational hypertension or preterm birth.
Area of Science:
- Maternal-fetal medicine
- Biochemical screening
- Pregnancy outcomes
Background:
- Abnormal maternal biochemical markers are linked to adverse pregnancy outcomes.
- This study investigates using maternal characteristics and biochemical markers for preeclampsia (PE) screening.
- A secondary aim is to identify risks for gestational hypertension and preterm birth.
Purpose of the Study:
- To assess the efficacy of combining maternal characteristics with first and second-trimester biochemical markers for preeclampsia (PE) screening.
- To evaluate this combined approach for identifying pregnancies at risk of gestational hypertension and preterm birth.
Main Methods:
- A case-control study analyzed maternal characteristics and biochemical markers (PAPP-A, PlGF, hCG, AFP, uE3, Inhibin A) from blood samples.
- Median multiples of the median (MoM) were compared between cases (PE, gestational hypertension, preterm birth) and controls.
- Logistic regression estimated screening performance (detection rate and false positive rate).
Main Results:
- PE cases showed significantly lower first-trimester PAPP-A, PlGF, and hCG MoM compared to controls.
- First-trimester PAPP-A, PlGF, and hCG were lowest in preterm and early-onset PE.
- A combination of maternal characteristics with first-trimester PAPP-A and PlGF predicted 67% of preterm PE and 76% of early-onset PE at a 20% false positive rate.
Conclusions:
- Maternal characteristics combined with first-trimester PAPP-A and PlGF offer reasonable accuracy for identifying women at risk of early-onset PE.
- This combination allows for the triage of high-risk pregnancies for further investigation and risk-reducing therapy.
- The predictive accuracy for gestational hypertension and preterm birth was lower with this screening approach.
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