Preimplantation Genetic Diagnosis (PGD)

With 99.9% accuracy in predicting an embryo’s gender, PGD gives couples the best odds in determining their baby’s sex. But unlike MicroSort®, which is used prior to conception, PGD is performed after conception using IVF. This  poses a moral or ethical dilemma for some couples because they’re creating embryos, some of which may not be used. They consequently have to decide what to do with the excess embryos.  Other than this concern, PGD offers couples the best bet in selecting their future baby’s gender.

A relatively new reproductive technology, PGD allows couples to choose their baby’s sex by identifying male and female embryos conceived in a laboratory, prior to transfer to the woman’s uterus. PGD requires IVF, fertilization in a lab dish, along with a minor surgical procedure to remove eggs from her ovaries. After fertilization, specialists examine the 2-day-old embryo for its sex chromosomes (XX or XY), and inserts one or several embryos of the selected sex into the woman’s uterus.

PGD was first developed in the 1980s. Interestingly, the initial application of PGD in humans was to determine the gender of embryos to prevent X-linked genetic diseases This technique was first described in 1987 by scientists at the University of Edinburgh[1] and the first live births, healthy twin girls, were reported in 1990.[2] PGD has subsequently been used not only to detect gender but also to detect abnormalities of chromosome number, such as Down syndrome, and serious single-gene disorders such as cystic fibrosis and sickle-cell anemia.

Embryo Quality

With all methods of PGD, an important fact is worth noting: A surprisingly high percentage (50% to 70%) of embryos will be found to be abnormal, even in healthy, fertile couples. A typical PGD case might look something like this: 14 eggs are retrieved; 11 are suitable for fertilization; 8 fertilize; 6 are biopsied (one cell is examined); 3 are normal; and 1 or 2 of the normal embryos are of the desired gender.  As you can see, this is a very inefficient process. Many couples who undergo IVF-PGD are often surprised by the high number of abnormal embryos they have in a cycle.

This news can be a shock when couples get the results of their embryo biopsies. But this is all part of nature — and it can help explain the many miscarriages that women experience as a whole. Not all of our eggs or embryos are healthy or free of chromosomal abnormalities, and most of them do not have the potential of turning into perfect little babies.  But many embryos do. PGD can help Doctors sort out the “good eggs from the bad”, to borrow an expression. And it gives couples the opportunity to produce a healthy child of the gender they’re hoping for.


[1] S. J. D. West et al., “Sexing the Human Pre-Embryo by DNA – DNA in-situ hybridization,” Lancet 1 (1987): 1345–47.

[2] A. H. Handyside, E. H. Konotogianni, K. Hardy, and R.M. L. Winston, “Pregnancies from Biopsied Human Preimplantation Embryos Sexed by Y-Specific DNA Amplification,” Nature 334 (1990): 768–70.

 

PGD Overview

PGD can help couples not only select the gender of their child but the process can also assist couples who could potentially transmit a sex-linked genetic disease (disease carried on the sex chromosome) to their children. For example, hemophilia can only be transferred from an affected mother to her son.  With PGD, the first step is to gather mature eggs from the woman’s ovaries so that they can be fertilized in a lab (IVF). IVF generally... [more]

The PGD Process

Couples interested in PGD for sex selection first have a face-to-face consultation at the fertility clinic. The doctor reviews their family history, their children and past pregnancies, fertility issues, miscarriages or birth defects in previous pregnancies, and any family genetic disorders. Couples using PGD for sex selection go through virtually the same protocol as couples seeking IVF alone, with the additional steps (and costs) involved... [more]

Fluorescent In Situ Hybridization (FISH)

Currently FISH, the most popular PGD technique, is used to count the number of certain chromosomes and observe how they’re arranged. Through FISH, scientists can determine if an embryo has two X chromosomes (a girl) or an X and Y chromosome (a boy). Each chromosome has a specific pattern of DNA near its center, which is identical in nearly all of us. When fluorescent probes are placed on a cell, they attach to the specific region that they... [more]

Additional PGD Techniques

Polymerase chain reaction (PCR) If a suspected hereditary problem is at the gene rather than chromosomal level, PCR is commonly used. PCR makes millions of copies of a DNA code segment, which allows scientists to assess whether this segment is normal or mutant. First, a primer or copy is made to a specific conserved region of the target chromosome. For gender selection, the Y chromosome is targeted. The primer is a perfect match for its target... [more]

Examining an Embryo with PGD

To examine an embryo for gender and/or genetic disorders/chromosomal irregularities, the technician first extracts one of the embryo’s cells. This is done by boring a microscopic opening in the egg’s outer mucus layer with a laser beam. Next, a single cell is removed with gentle suction. This cell is examined for single-gene diseases and gender, generally using the FISH process. After the biopsied cell is examined, the couple is given an... [more]

PGD Statistics

When performed at an experienced fertility clinic with well trained laboratory technicians, PGD, is reported to be 99.9% effective in selecting genders.  This is because the sex chromosomes of the embryo are examined and the XY (male) or XX (female) chromosomes are “seen” or identified with the florescence. The science has been proven and replicated at fertility clinics and in laboratories around the globe for about 30 years. However, in... [more]

The Future of PGD

Since PGD is 99.9% effective in determining an embryo’s gender, there’s not much room for improvement here.  However, with continued advances in IVF and ICSI,  which are used in conjunction with PGD, we will probably see higher pregnancy rates with PGD.   While PGD is a trustworthy method for gender selection/family balancing, it’s been used over the past two decades primarily for genetic disease screening. This is likely to... [more]

 
 

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Forum's Latest Posts

John G. Wilcox [ 05-08-2011 07:03 ]

re: Do I have to already have one child to use gender selection?

No, you and your HRC fertility doctor will discuss whether this decision is right for you and your family.

David E. Tourgeman [ 05-08-2011 07:02 ]

re: Legal issues

Gender selection is legal in the United States. Living in a country where gender selection is not legal does not preclude you from becoming an HRC...

Jeffrey R. Nelson [ 05-08-2011 07:00 ]

re: What is PGD?

PGD is preimplantation genetic diagnosis. It is conducted during the in vitro fertilization (IVF) process. Once the eggs have been fertilized and...