PGD AND PG

PGD AND PG

Preimplantation Genetic Screening (PGS) & Preimplantation Genetic Diagnosis (PGD) – Advanced Genetic Testing in IVF

Every parent dreams of having a healthy child, and the good news is that most babies are born healthy. However, for some couples planning a pregnancy, genetic disorders or chromosomal abnormalities can pose significant challenges. Research shows that genetic factors contribute to nearly 10% of infertility cases and recurrent pregnancy losses. With advances in reproductive medicine, PGS and PGD genetic testing have emerged as powerful tools to help couples improve pregnancy outcomes and reduce genetic risks.

Role of Genetics in Infertility & Pregnancy Loss

A major cause of implantation failure and early miscarriage is chromosomal abnormality in embryos. Studies reveal that 50–70% of cleavage-stage embryos produced through IVF are chromosomally abnormal, which is significantly higher than spontaneous conception losses. Most embryos with an incorrect number of chromosomes fail to implant or result in miscarriage during the first trimester.

In women of advanced maternal age (above 35 years), declining egg quality leads to a higher rate of chromosomal errors, which is the primary reason for reduced pregnancy rates. Common chromosomal disorders caused by aneuploidy include:

• Down syndrome (Chromosome 21)

• Edwards syndrome (Chromosome 18)

• Patau syndrome (Chromosome 13)

What is PGS (Preimplantation Genetic Screening)?

Preimplantation Genetic Screening (PGS) is a genetic test performed on embryos created through IVF to detect numerical chromosomal abnormalities (aneuploidy). This test is done before embryo transfer to the uterus, allowing fertility specialists to select embryos with the correct number of chromosomes.

PGS analyzes all 24 chromosomes, helping identify embryos most likely to implant successfully, develop normally, and result in a healthy live birth. By transferring only chromosomally normal embryos, PGS significantly:

• Increases implantation rates

• Reduces miscarriage rates

• Improves pregnancy and delivery outcomes

• Reduces the risk of chromosomal disorders

Advanced Technology Used in PGS

At Anmol Fertility & IVF Centre, PGS testing is performed using the most advanced genetic technologies, including:

• NGS (Next-Generation Sequencing)

• Array Comparative Genomic Hybridization (aCGH)

These techniques allow accurate detection of:

• Aneuploidy

• Mosaicism

• Segmental chromosomal alterations

The rapid turnaround time enables embryo transfer in fresh or frozen IVF cycles, improving treatment flexibility.

Embryo Biopsy – Is it Safe?

PGS involves removing a few cells from the trophectoderm of the blastocyst-stage embryo using a laser to create a small opening in the zona pellucida. Extensive research and data from hundreds of thousands of live births worldwide confirm that embryo biopsy does not affect the embryo’s ability to develop into a healthy baby.

Long-term follow-up studies show no increase in birth defects, growth problems, or neurological development issues in children born after PGS or PGD compared to the general population.

Indications for PGS in Infertility Treatment

PGS is especially beneficial in the following situations:

• Women aged above 35 years

• Recurrent pregnancy loss (RPL) of unknown cause

• Repeated implantation failure (RIF) after multiple IVF cycles

• Severe male factor infertility (severe oligoasthenozoospermia)

• Previous pregnancy with chromosomal abnormality

• When Single Embryo Transfer (SET) is planned

What is PGD (Preimplantation Genetic Diagnosis)?

Preimplantation Genetic Diagnosis (PGD) is a specialized genetic test performed during IVF to detect specific inherited genetic disorders or single-gene mutations. Unlike PGS, which screens all chromosomes, PGD focuses on targeted genetic conditions based on the couple’s medical or family history.

PGD helps prevent the transmission of serious genetic diseases and allows couples at high genetic risk to achieve a healthy pregnancy.

Conditions Diagnosed Using PGD

PGD is used for monogenic (single-gene) disorders, including:

• Cystic fibrosis

• Fragile X syndrome

• Spinal muscular atrophy (SMA)

• Duchenne muscular dystrophy (DMD)

• Huntington’s disease

PGD is also useful for families with conditions such as:

• Alpha thalassemia

• Polycystic kidney disease

• Glycine encephalopathy

• Familial Mediterranean fever

• Haemochromatosis

Accuracy & Reliability of PGD

PGD uses advanced molecular techniques such as:

• PCR (Polymerase Chain Reaction)

• Linkage analysis using STR markers

Multiple detection methods minimize diagnostic errors like allele dropout, ensuring accuracy greater than 98%. Only embryos confirmed to be free of the genetic disorder are selected for transfer.

Benefits of PGS & PGD

• Higher chances of healthy pregnancy

• Reduced miscarriage risk

• Lower risk of genetic disorders

• Improved IVF success rates

• Increased confidence in embryo selection

Genetic Testing at Anmol Fertility & IVF Centre

At Anmol Fertility & IVF Centre, we offer a comprehensive range of reproductive genetic testing services, providing expert guidance at every step. Our advanced genetic diagnostics, experienced fertility specialists, and compassionate care ensure that couples receive accurate answers to complex fertility challenges.

By combining genetic excellence with personalized fertility care, we help you move closer to your dream of motherhood with confidence and clarity.

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