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Table 3 Comparison of OI reproductive options

From: Reproductive options for families at risk of Osteogenesis Imperfecta: a review

Pre-pregnancy testing
  Genetic Testing PCS
 Target user People affected with OI People with risk of OI (OI family history, consanguinity, founder population origin)
 Advantages Fast and informative Fast and informative
 Limitations VUS; negative results of genetic test Parental mosaicism; de novo OI; VUS
Fertilisation methods
  Natural pregnancy IVF with PGT-M IVF with donor germ cells IVF with donor embryo
 Genetically related child Yes Yes No No
 Child without OI Unknown Yes Yes Yes
 OI mother’s health challenges Pregnancy, delivery Superovulation, pregnancy, delivery Superovulation, pregnancy, delivery Pregnancy, delivery
 Limitations PGT-M unavailable, high chance of OI affected pregnancy, de novo variants, variable phenotypic expressivity of OI De novo variants De novo variants, PCS need to be done for sex cell donors De novo variants
Prenatal testing
  NIPT Ultrasound CVS Amniocentesis Cordocentesis
 Non-invasive Yes Yes No No No
 Week of gestation 7th–10th 20th 10th–12th 15th–20th 22nd-24th
 Tests foetal abnormalities, OI Yes Yes Yes Yes Yes
 Differs OI 2–3 No No No No No
 Risk of misdiagnosis Yes (placental mosaicism) Yes (differential diagnosis) Yes (placental mosaicism) No No
 Limitations Unavailable before 7th week of gestation, high mother’s BMI Unavailable at early gestation weeks Unavailable at early gestation weeks, risk of miscarriage ~ 1% Unavailable at early gestation weeks, risk of miscarriage ~ 0.5–1% Unavailable at early gestation weeks, risk of miscarriage ~ 1–2%
  1. BMI Body mass index, CVS Chorionic villus sampling, IVF PGT-M In vitro fertilisation with preimplantation genetic testing for monogenic disease, NIPT Non-invasive prenatal testing, PCS Preconception carrier screening, VUS Variant of unknown significance