Preimplantation genetic diagnosis: a national multicenter obstetric and neonatal follow-up study

This study showed obstetric and neonatal outcomes after preimplantation genetic diagnosis comparable to the well-known risks associated with in vitro fertilization/ intracytoplasmic sperm injections and mainly related to underlying parental condition rather than the preimplantation genetic diagnosis procedure.

Volume 106, Issue 6, Pages 1363-1369


Bjorn Bay, Ph.D., Hans Jakob Ingerslev, D.M.Sc., Josephine Gabriela Lemmen, Ph.D., Birte Degn, Ph.D., Iben Anne Rasmussen, Ulrik Schiøler Kesmodel, Ph.D.



To study whether women conceiving after preimplantation genetic diagnosis (PGD) and their children have greater risks of adverse pregnancy and birth outcomes compared with children conceived spontaneously or after IVF with or without intracytoplasmic sperm injection (ICSI).


Historical cohort study.


Not applicable.


All deliveries following PGD treatment for single gene and sex-linked disorders or structural chromosomal aberrations (n = 126 deliveries/149 children), IVF/ICSI treatment (n = 30,418 deliveries/36,115 children), and spontaneous conception (n = 896,448 deliveries/909,624 children).



Main Outcome Measure(s)

Adverse obstetric and neonatal outcomes, such as pre-eclampsia, preterm primary rupture of membranes, placenta previa, abruption of placenta, preterm birth, low birth weight, malformations, and neonatal admission.


Compared with spontaneously conceived pregnancies, PGD pregnancies were at significantly increased risk of placenta previa (adjusted odds ratio [ORa] 9.1; 95% confidence interval [95% CI] 3.4, 24.9), cesarean section (ORa 2.0; 95% CI 1.3, 2.9), preterm birth (ORa 1.6; 95% CI 1.0, 2.7), shorter gestation (mean difference −3.4 days; 95% CI −5.7, −1.1 days), and longer neonatal admission (mean difference 21 days; 95% CI 15, 28 days). The risks were comparable to that of pregnancies following IVF/ICSI. In subanalyses, adverse outcomes were only present in children conceived by PGD owing to parental monogenetic disorder and comparable to those of children born to parents with monogenic disorders conceiving without PGD, except for a higher risk of placenta previa.


In this cohort study, the risk of adverse obstetric and neonatal outcomes was mainly related to the underlying parental condition rather than the PGD procedure.

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