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Follow-up Data of Children Born after Preimplantation Genetic Diagnosis Reassuring

Preimplantation Genetic Diagnosis (PGD), an IVF-related technique used to select genetically competent embryos, has been much debated with respect to the health of the resulting children. A chief concern has been the safety of the embryo biopsy. When performed on the day 3 embryo (8 cells) just one cell is removed for PGD and when performed on the day 5 or 6 embryo (blastocyst, 130-150 cells), a few cells are removed. PGD in the case of the blastocysts requires cryopreservation with transfer of genetically unaffected embryo(s) in a subsequent cycle.

An analysis of 88,010 live births after PGD or IVF/Intracytoplasmic sperm injection (ICSI) reported no increased risk of preterm birth or low birth rate when PGD is performed, even after adjustment for confounding factors (female age, infertility diagnosis, number of previous IVF attempts, number of eggs retrieved, insemination type, day of embryo transfer), demonstrating safety of the embryo biopsy itself.[1]

In the very recently published issue of Fertility and Sterility, Dr. Malou Heijligers and colleagues of Maastricht University Medical Center (Utrecht, The Netherlands) compared the growth, health, and motor development of 5 year-old children born after PGD to similar aged children born after IVF/ICSI and to children from families with a genetic disorder born after natural conception (NC).[2] The mean height, weight, and body mass index were comparable in all groups. A major congenital abnormality was noted in 5.8% (6/103) of PGD, 4.4% (4/90) of IVF/ICSI and 8.6% (5/58) NC children. In short, children born after PGD show normal health, growth and development relative to IVF/ICSI and NC children born to families with genetic disorders.


[1] Sunkara SK, Antonisami B, Selliah HY, Kamath MS. Pre-term and low birth weight following preimplantation genetic diagnosis: analysis of 88,010 singleton live births following PGD and IVF cycles. Hum Reprod 2017, 32:432-8.

[2] Heijligers M, Peeters A, van Montfoort A, Nijsten J, Janssen E, et al. Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis. Fertil Steril 2019; 111:1151-8.

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