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Grand Rounds

Does Preimplantation Genetic Testing for Monogenetic Diseases Increase the Risk of Pregnancy Complications?

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BACKGROUND AND PURPOSE:

  • Feldman et al. (Obstetrics & Gynecology, 2020) examined whether preimplantation genetic testing for monogenic diseases (PGT-M) is associated with a higher risk of pregnancy complications vs IVF without preimplantation genetic testing or spontaneously conceived pregnancies

METHODS:

  • Cohort study
  • Participants
    • All pregnancies conceived after preimplantation genetic testing for monogenic diseases
    • Compared to patients who (1) conceived spontaneously or (2) conceived with IVF but without preimplantation testing
  • Exposure groups
    • PGT-M group: Preimplantation genetic testing for monogenic diseases
    • IVF group: IVF without preimplantation genetic testing
    • Control: spontaneous conception
  • Study design
    • Obstetric outcomes were compared between groups
    • Multivariable regression modeling use to assess relationships between PGT-M and adverse outcomes
  • Covariates included in the analyses
    • Age | BMI | Smoking history | parity | Mode of conception | Indication for PGT-M

RESULTS:

  • Participants
    • PGT-M group 345 singletons | 76 twin deliveries
    • Spontaneous conception: 290 singletons | 92 twin deliveries
    • IVF: 422 singletons | 101 twin deliveries

Singleton Pregnancies

  • PGT-M is associated with a higher rate of hypertensive disorders when adjusted for confounders
    • PGT-M: 6.9%
    • Spontaneous conception: 2.3%: aOR 14.8 (95% CI, 7.4 to 29.8)
    • IVF: 4.7%: aOR 5.9 (95% CI 1.9 to 18.2)
  • PGT-M was associated with a higher rate of small-for-gestational age (SGA) neonates
    • PGT-M: 12.4%
    • Spontaneous conception: 3.9% | aOR 2.3 (95% CI 1.5 to 3.4)
    • IVF: 4.5% | aOR 2.5 (95% CI, 1.7 to 5.2)

Twin Pregnancies

  • PGT-M was also associated with an increased rate of hypertensive disorders
    • PGT-M: 15.7%
    • Spontaneous conception: 4.3% | aOR 10.9 (95% CI 2.3 to 50)
    • IVF: 4% | aOR 3.7 (95% CI 1.1 to 12.8)

CONCLUSION:

  • Preimplantation genetic testing for monogenic diseases was associated with an increased risk for hypertensive disorders of pregnancy and SGA vs IVF without preimplantation testing or spontaneous conception
    • There were no differences detected for other complications
  • Study limitations include lack of information regarding
    • Mode of fertilization
    • Type of embryo transfer (fresh vs frozen)

Learn More – Primary Sources: 

Obstetric and Perinatal Outcomes in Pregnancies Conceived After Preimplantation Genetic Testing for Monogenetic Diseases 

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Related ObG Topics:

Are Offspring of IVF/ICSI Pregnancies at Higher Risk for Congenital Heart Defects?
Infertility Treatment and Childhood Development
ACOG Addresses Preimplantation Genetic Testing

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