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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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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.

BMC Pregnancy and Childbirth
|March 9, 2022
PubMed
Summary

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.

Keywords:
Alpha feto-proteinGestational hypertensionHuman chorionic gonadotropinMultiple marker screeningPlacental growth factorPreeclampsiaPregnancy-associated plasma protein APreterm birthUnconjugated estriol and Inhibin A

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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.