Preimplantation Genetic Diagnosis (PGD) with IVF

A Look at How PGD and IVF Can Help Prevent Miscarriage

IVF treatment.
IVF treatment.. Science Photo Library/Getty Images

In vitro fertilization (IVF) is traditionally thought of as an infertility treatment for couples who have trouble conceiving naturally. And of course, infertility is its most common use of IVF. But when used together with a technique called preimplantation genetic diagnosis/screening (PGD), IVF may sometimes also be useful as a treatment for recurrent miscarriages.

What PGD Means

Preimplantation genetic diagnosis is a screening technique for embryos created during an IVF cycle.

This technique involves removing one cell from the embryos, before implantation, on the third day after fertilization and performing a chromosome analysis on that cell to screen for chromosome disorders that could lead to miscarriage. PGD is also sometimes used for other purposes, such as sex selection in families with hereditary gender-linked diseases or for specific genes when the parents are known carriers of a disorder.

Risks of Preimplantation Genetic Diagnosis

PGD appears safe; many healthy babies have been born who were conceived in cycles with IVF and PGD, and there's no evidence that the test poses any risk to the baby. As with most other currently available tests, however, PGD is not a guarantee that the baby will not have any genetic disorders. It is not feasible to scan for every known possible genetic condition; usually the test involves screening only for problems that involve the chromosomes or for specific genes known to run in a family.

PGD for Couples With Fertility Issues

PGD is mainly a consideration for couples who are dealing with the double whammy of infertility compounded by a tendency to miscarry when they do get pregnant. It appears that using PGD may boost the success rates of IVF in general by reducing the risk of implanting an embryo that would be predestined to miscarry.

However, the evidence is not yet conclusive enough to recommend PGD as a standard practice with all IVF cycles; thus, couples should discuss with their physicians whether PGD is an intervention worth pursuing.

IVF and PGD for Couples Without Trouble Conceiving

A few studies have looked at whether IVF with PGD improves success rates for couples with unexplained recurrent miscarriages, and it appears that it might on a short-term basis, but it might not make a difference in the long run. Even without IVF, couples with unexplained miscarriages have a good chance of ultimately having a successful pregnancy. It is possible that IVF with PGD may be useful in some cases where parents have documented chromosome abnormalities that increase the risk of miscarriage, as PGD can allow parents to avoid implanting affected embryos, but again there isn't much evidence that IVF with PGD leads to higher success rates compared with simply trying naturally. Given the high cost and invasiveness of any type of IVF, many couples opt for the latter.

Physicians may make decisions on a case-by-case basis, perhaps suggesting IVF with PGD for moms older than 35 who are dealing with recurrent miscarriages, as these moms have a higher risk of having a baby with chromosome issues as well as an increased risk of having trouble conceiving as more time passes. However, there are no standard guidelines at this time regarding who should be offered IVF with PGD and who should not; future research may shed more light on this matter.


Garrisi JG, Colls P, Ferry KM, Zheng X, Garrisi MG, Munné S. "Effect of infertility, maternal age, and number of previous miscarriages on the outcome of preimplantation genetic diagnosis for idiopathic recurrent pregnancy loss." Fertil Steril. 2008 Aug 8. Epub ahead of print.

Gianaroli, Luca, M. Cristina Magli, Anna P. Ferraretti, and Santiago Munné. "Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed." Fertil Steril. 1999 Nov;72(5):837-44.

Pre-Implantation Genetic Diagnosis. UCSF Medical Center. Accessed: May 16, 2009.

Stephenson, Mary D. and Sony Sierra. "Reproductive outcomes in recurrent pregnancy loss associated with a parental carrier of a structural chromosome rearrangement." Human Reproduction 2006. 21(4):1076-1082.

Twisk M, Mastenbroek S, van Wely M, Heineman MJ, Van der Veen F, Repping S. "Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection." Cochrane Database Syst Rev. 2006 Jan 25;(1):CD005291.

Continue Reading