Morphologic abnormalities in 2 year old children born after in vitro fertilization intracytoplasmic sperm injection with preimplantation genetic screening Follow up of a randomized controlled…

In this follow-up study of a randomized controlled trial on preimplantation genetic screening (PGS), the percentage of 2-year-old children with one or more major abnormality in the group born after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) with PGS did not exceed the percentage in those born after IVF/ICSI without PGS.

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Fenny Beukers, M.Sc., Maaike van der Heide, M.D., Karin J. Middelburg, M.D., Ph.D., Jan Maarten Cobben, M.D., Ph.D., Sebastiaan Mastenbroek, Ph.D., Rinske Breur, M.D., Johanna H. van der Lee, M.D., Ph.D., Mijna Hadders-Algra, M.D., Ph.D., Arend F. Bos, M.D., Ph.D., Joke H. Kok, M.D., Ph.D., PGS Study Group

Volume 99, Issue 2, Pages 408-413.e4, February 2013



To evaluate the effect of preimplantation genetic screening (PGS) on morphologic outcome in children.


Follow-up of a randomized controlled trial (RCT).


University hospital.


Two-year-old children born to mothers who participated in an RCT on the efficacy of PGS: 50 children born after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) with PGS (intervention group; PGS+) and 72 children born after IVF/ICSI only (control group; PGS−). Sixty-six age-matched children conceived without any form of assisted reproduction were recruited separately in a local public health service center (reference group).



Main Outcome Measure(s):

Body surface examination and anthropometry. The evaluation of morphologic abnormalities allowed assessment of children’s phenotype in detail. Morphologic abnormalities were classified as major abnormalities (abnormal development in organogenesis, deformations, disruptions, or dysplasia) and minor anomalies (deviations in phenogenesis).


The percentage of children with ≥1 major abnormality was 28% in the PGS+ and 35% in the PGS− group [difference −7%, 95% CI −23% to 10%]. The percentage of children with ≥1 minor anomaly was 64% in the PGS+ and 67% in the PGS− group [difference −3%, 95% CI −15% to 20%]. In the reference group 30% of the children had ≥1 major abnormality [95% CI 20% to 43%] and 74% had ≥1 minor anomaly [95% CI 62% to 84%].


No statistically significant differences were found in minor anomalies between children conceived after IVF/ICSI with or without PGS. There is <2.5% chance of ≥10% more major abnormalities in children born after PGS.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.