IVF Lab / Ovation Genetics

Genetic Testing in Boca Raton & Aventura

We Recommend Preconception Carrier Screenings Before Pregnancy

Preconception Carrier Screening

Preconception carrier screening is an essential genetic test that helps identify whether you or your partner are carriers for genetic conditions that could be passed on to your children. At Palm Beach Fertility Center in Boca Raton and Aventura, we recommend this comprehensive screening before pregnancy to ensure the healthiest possible outcomes for your future family.

Being a carrier means you have one copy of a gene mutation for a genetic condition. While carriers typically don't show symptoms, if both partners carry the same genetic mutation, there's a significant risk of passing that condition to their children. Carrier screening identifies these risks early, allowing you to make informed decisions about your family planning.

Our advanced carrier screening panels test for over 300+ genetic abnormalities, including:

Cystic Fibrosis

A lung and digestive system disorder

Tay-Sachs Disease

A progressive nervous system disorder

Fragile X Syndrome

The leading inherited cause of intellectual disability

Sickle Cell Anemia

A blood disorder affecting red blood cells

Spinal Muscular Atrophy (SMA)

A neuromuscular disorder

When combined with IVF and preimplantation genetic testing (PGT), carrier screening helps us identify the healthiest embryos for transfer, significantly improving your chances of a successful pregnancy and a healthy baby.

PGT-A: Aneuploidy Screening

PGT-A (Preimplantation Genetic Testing for Aneuploidy) screens embryos for chromosomal abnormalities—specifically, testing whether embryos have the correct number of chromosomes (46 total: 23 from each parent). Embryos with too many or too few chromosomes (aneuploidy) are the leading cause of IVF failure, miscarriage, and conditions like Down syndrome.

How PGT-A Works:

Performed on embryos at the blastocyst stage (day 5-6 of development)
A few cells are biopsied from the outer layer of the embryo (trophectoderm)
Embryos are frozen while genetic analysis is completed
Only chromosomally normal (euploid) embryos are transferred

Benefits of PGT-A:

Improves implantation and pregnancy success rates
Reduces miscarriage risk by up to 50%
Shortens time to successful pregnancy
Enables confident single embryo transfer

PGT-M: Monogenic Disorder Testing

PGT-M (Preimplantation Genetic Testing for Monogenic/Single Gene Disorders) is used when one or both parents carry a gene mutation for a specific hereditary condition. This testing identifies embryos that are affected by or carry the genetic condition, allowing only unaffected embryos to be transferred.

Conditions Tested with PGT-M:

Cystic Fibrosis

Progressive lung and digestive disease

Fragile X Syndrome

Intellectual disability and developmental delays

BRCA1/BRCA2 Mutations

Increased risk of breast and ovarian cancer

Sickle Cell Disease

Affects red blood cell function

Huntington's Disease

Progressive brain disorder

Tay-Sachs Disease

Fatal nervous system disorder

Who Should Consider PGT-M:

PGT-M is recommended for families with a known genetic disorder in their family history or when carrier screening reveals both partners carry the same recessive gene mutation.

This testing allows you to have biological children without passing on hereditary conditions, giving you peace of mind and the best chance for a healthy baby.

PGT-SR: Structural Rearrangement Testing

PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements) is designed for patients who carry chromosomal translocations, inversions, or deletions. These structural abnormalities can affect embryo viability, increase miscarriage risk, and potentially result in children with genetic conditions.

What Are Structural Rearrangements?

Chromosomal structural rearrangements occur when pieces of chromosomes break off and reattach in different positions. Common types include:

Translocations: Chromosome segments swap positions
Inversions: Chromosome segments flip orientation
Deletions/Duplications: Missing or extra chromosome material

Benefits of PGT-SR:

Identifies embryos unaffected by structural abnormalities
Reduces recurrent miscarriage risk
Increases chances of a chromosomally balanced baby
Improves IVF success rates for translocation carriers

PGT-SR is particularly important for patients with a history of multiple miscarriages or failed IVF cycles related to chromosomal issues.

Ready to Learn More About Genetic Testing?

Schedule a consultation with Palm Beach Fertility Center to discuss preconception carrier screening and genetic testing options for your IVF journey in Boca Raton or Aventura.

Book Your Consultation Call 888.819.5177

Why Genetic Testing Matters

Genetic testing and carrier screening help identify potential genetic issues before pregnancy, allowing our team to select the healthiest embryos for transfer and maximize your chances of a healthy baby.

300+

Genetic conditions screened