What is a PGD (Family Balancing)

Preimplantation genetic diagnosis (PGD) is a genetic screening procedure used in assisted reproductive technology to increase your chances of a viable pregnancy. The technology tests the embryo for chromosomal defects, which can later lead to the forceful termination of the pregnancy. PGD dates back to 1989 when Alan Handy side came up with this screening procedure to detect the presence of cystic fibrosis in embryos implanted through IVF. It was also used for sex selection since male embryos are at an increased risk of catching sex-related diseases than their female counterparts. Later, it developed into an advanced genetic selection and screening test that detects single-gene diseases, chromosomal abnormalities, and sex-related disorders. Today, PGD is widely performed in conjunction with the IVF procedure to ensure the embryo that’s healthy and free from chromosomal abnormalities is chosen for implantation.

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Process of PGD

Preimplantation Genetic Diagnosis is conducted after successful fertilization. Here’s the PGD process.

In-Vitro Fertilization

The procedure is for couples who choose IVF to conceive through assisted reproductive technology. IVF involves either natural egg and sperm fertilization or intracytoplasmic sperm injection (ICSI). Either way, a woman’s eggs that are extracted through an egg retrieval procedure and a man’s sperm are combined in a petri dish and are left overnight for fertilization.

Embryo Culture

Fertilized eggs are stored in the lab dish for 3-5 days so they can reach the blastocyst stage. At this stage, the cells are divided to form a fetus and the placenta. The embryologist can then collect the cells from the embryo for testing.


The next part of the process is a biopsy, in which the embryo's cells are extracted and sent to the lab for genetic diagnosis. The embryologist can extract two or multiple cells from the embryo for accurate results depending on how soon after fertilization the biopsy is conducted.

Genetic Analysis

The extracted cells are tested for chromosomal abnormalities and other sex-related diseases in the embryo. The embryologist then separates the diseased embryos from the healthy ones. The result can be available as early as 2-3 days.

Embryo Transfer

Your chosen screening test PGD process is embryo transfer—the implantation of the healthiest embryo into the woman’s uterus through a minor surgical procedure. The woman is advised to take a pregnancy test within the next ten days of the embryo transfer. If she tests positive for pregnancy, her and the embryo’s health are monitored closely.

Applications of PGD

PGD isn’t a fertility treatment but is used with a fertility procedure to mitigate the risk of the child being born with a chromosomal abnormality, such as Down Syndrome.

Choosing Specific Gender

Parents might want a child of a specific gender for two reasons. First, children of a specific sex have less chance of inheriting a genetic disease. Second, it helps with family balancing. For instance, if you already have a boy child, you might want a girl child in the second pregnancy. PGD is a gender selection treatment that helps you choose an embryo of a specific gender for implantation.

Aneuploidy Testing

A normal fetus has 23 pairs of chromosomes, making it 46. Aneuploidy occurs when there is a defect in the chromosome count and structure. The condition can lead to Down Syndrome and Turner Syndrome in the fetus.
Although the exact cause of this chromosomal abnormality is not known, older mothers and parents with a history of chromosomally abnormal pregnancies are at increased risk. PGD can rule out the possibility of such defects in the fetus.

Preimplantation Genetic Diagnosis is a viable choice for couples who have had multiple pregnancy terminations due to chromosomal abnormalities in the fetus. Here’s how it is beneficial for couples planning pregnancy through assisted reproductive technology.

Benefits of PGD

What is PGD?

PGD (Pre-Implantation Genetic Diagnosis) helps couples in BALANCING their family, it also reduces the risk of passing hereditary genetic disorders onto their children. Couples blessed with at least one child of a particular sex in the family are often interested in giving birth to another child Read More

What is PGD? | Australian Concept

What are the Steps in PGD?

Step 1: Initial Assessment and Counselling Once the couple shows their wish to have a balanced family or their infertility specialist assessed them to be at risk of giving birth to a child with inheritable genetic disorders, they are advised to go for a PGD procedure. Read More

Steps In PGD | Australian Concept
Consider PGD | Australian Concept

Who Should Consider PGD?

Couples who are dreaming of a balanced family should consider PGD. Pre-implantation genetic diagnosis allows parents to choose the gender of the baby before embryo transfer and implantation. Read More

Risks Involved with PGD

Most of the risks associated with PGD treatment are similar to those with intracytoplasmic sperm injection (ICSI) / in-vitro fertilization (IVF): Read More

Risks Involved with PGD | Australian Concept

Common Considerations of PGD

The most common ethical consideration for PGD is embryo disposition. Since the procedure requires multiple embryo creation, some of which might be the carriers of chromosomal defects or are of the gender that the parents might not want. This raises concerns regarding whether such embryos should be donated, frozen, or discarded. Simply put, among the multiple embryos formed in IVF, the couple will choose the healthiest, and no one might want to adopt the embryos with chromosomal abnormalities. The last resort is to discard them.

PGD Treatments and Advancements

Preimplantation Genetic Diagnosis has witnessed several advancements that improve the outcome of your fertility treatment, reduce the risk of miscarriage, and ensure a healthy and normal pregnancy in couples struggling with infertility. Some advanced technologies that have made PGD more successful are:

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Comprehensive Chromosomal Screening (CCS):

The lesser or higher number of chromosomes in the fetus can lead to chromosome-related disorders, such as Down Syndrome, in the baby. Fortunately, the most notable advancement in PGD is CCS, a procedure that detects each embryo for chromosomal defects.

Single-Cell Biopsy:

PGD involves testing individual cells within the embryo to interpret their gene material. This offers more accurate results and reduces the risk of damage to the embryo. There’s ongoing research in PGD accuracy and gene editing methods. CRISPR-Cas9 technology, for instance, is a promising solution that helps eliminate gene defects, increasing the success rate of IVF and PGD. The technology edits the embryo's genetic material by adding, removing, and modifying the DNA sequences.


Preimplantation Genetic Diagnosis (PGD) is the most viable way to ensure the good health of the embryo before it’s implanted into the woman’s uterus. It might cost you extra, but it reduces the risk of a failed IVF and increases the chances of a healthy pregnancy. PGD also plays a crucial part in gender selection and family balancing. That’s ideal for couples who want a child of a specific gender for personal or medical reasons.

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