Blastocyst biopsy: preimplantation genetic diagnosis of the embryo

What is a blastocyst biopsy?

The blastocyst biopsy is a diagnostic procedure performed as part of in vitro fertilization (IVF) to detect genetic abnormalities or monogenic mutations in the unborn child. This method significantly increases the likelihood of having a healthy baby by minimizing the risks of hereditary diseases and unsuccessful implantation attempts.

When is the embryo's trophectoderm biopsy recommended?

Preimplantation genetic diagnosis (PGD) is recommended in cases of increased risk of chromosomal or genetic abnormalities. Fertility specialists advise this test in the following cases:

• One or both parents are carriers of hereditary diseases or genetic mutations.
• The woman has a history of recurrent miscarriages (2 or more).
• The future mother is 35 years old or older and the father is 39 years old or older.
• Genetic or chromosomal abnormalities have been detected in the reproductive cells.
• The diagnosis for the man:
  • Oligozoospermia - low sperm count.
  • Azoospermia - total absence of sperm in the ejaculate.
  • A high percentage of morphologically abnormal sperm.
• Multiple unsuccessful IVF attempts, when pregnancy does not occur or is interrupted prematurely.

How is a blastocyst biopsy performed?

The procedure is performed on the 5th day of embryo development, when it reaches the blastocyst stage. At this stage, the embryo consists of an inner cell mass, from which the future baby will be formed, and the trophectoderm, a layer of cells from which the placenta develops.

The main steps of the procedure are as follows

1. Cell extraction - under microscope control, the embryologist performs a puncture using a biopsy needle, extracting 5 to 7 cells from the trophectoderm.
2. Laboratory analysis - the extracted cells are sent to a genetic laboratory where they are analyzed for chromosomal and genetic abnormalities.
3. Continuation of the embryo's development - after the biopsy, the embryo remains in the incubator and continues its development without abnormalities.

Methods for analyzing the biopsy sample

The cells obtained from a biopsy can be examined using modern molecular diagnostic techniques:

• FISH (fluorescence in situ hybridization) - analysis of individual chromosomes to detect specific abnormalities.
• PCR (polymerase chain reaction) - method for detecting monogenic mutations.
• CGH (comparative genomic hybridization) - assessment of potential chromosomal rearrangements and aneuploidies.
• NGS (Next Generation Sequencing) - the most accurate diagnostic method that allows for the detection of a wide range of genetic diseases.

What diseases can be detected?

Preimplantation genetic diagnosis allows for the exclusion of serious hereditary and chromosomal pathologies such as:

• Down syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome...
• Hemophilia, phenylketonuria, cystic fibrosis.
• Hereditary myopathies, Martin-Bell syndrome.
• Sensorineural hearing loss, neural amyotrophy, and other genetic diseases.

Where can a blastocyst biopsy be performed?

At the Natuvitro clinic, patients undergoing an IVF program can benefit from preimplantation genetic diagnosis of the embryo. The biopsy procedure is performed by our experienced embryologists under the control of a powerful microscope, ensuring high precision and safety of the method.

Make an appointment for a consultation at the Natuvitro clinic to receive detailed information about the blastocyst biopsy and choose the best option to achieve pregnancy.