Genetic Embryo Testing (PGT): Preimplantation Genetic Diagnosis

What Is Genetic Embryo Testing (PGT)?

Genetic embryo testing is a fundamental step in modern assisted reproduction, involving a series of specialized examinations aimed at preventing complications and ensuring the health of both the expectant mother and the embryo.

It consists of a combination of blood tests, ultrasound scans, microbiological screenings, and—where necessary—genetic analyses, all providing critical information for a healthy pregnancy journey. At Fertulity, we approach prenatal screening with scientific precision, individualized protocols, and cutting-edge technology, increasing the chances of a successful pregnancy with safety and responsibility.
By informing the couple in a timely manner, we can prevent genetic or infectious diseases that may affect the embryo while creating the ideal conditions for a healthy gestation. At Fertulity, genetic testing is not just a process—it’s an investment in the life that’s about to begin.

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First Trimester Genetic Screening

During the first trimester, core examinations include blood tests and a nuchal translucency ultrasound. The blood work detects abnormal hormone and protein levels associated with chromosomal abnormalities such as Down syndrome, trisomy 18, and others. The ultrasound checks fluid accumulation in the back of the fetal neck—if increased, it may signal a genetic syndrome. In selected cases, a chorionic villus sampling (CVS) may be performed to detect single-gene disorders such as cystic fibrosis, beta-thalassemia, Tay-Sachs disease, Rett syndrome, and more.

Second Trimester Genetic Screening

In the second trimester, the quadruple marker test is performed—a blood test evaluating the risk of genetic abnormalities like Down syndrome and spina bifida. At the same time, the anatomy scan provides a detailed view of fetal organ development, detecting congenital anomalies that may not appear earlier. Depending on findings, amniocentesis may be recommended for accurate diagnosis of chromosomal and genetic disorders. Screening for gestational diabetes is also done at this stage, as it’s linked to increased birth weight and potential risks for the fetus.

Third Trimester Genetic Screening

In the third trimester, the focus shifts to identifying risks of infections and preterm birth. Group B Streptococcus (GBS) screening is crucial, as the bacteria can cause severe neonatal infections during labor. If the result is positive, antibiotics are given preventively. Additionally, fetal lung maturity may be assessed via a specialized amniocentesis if early delivery is likely. As part of the full PGT process, third-trimester screening complements earlier phases to ensure the embryo remains in optimal condition until birth.

Which Conditions Can Be Detected with PGT?

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Who Should Consider Genetic Embryo Testing?

Genetic embryo testing is suitable for any couple seeking a scientifically sound and preventive approach to pregnancy. Many of these tests can be performed even before conception, assessing parental genetic compatibility, identifying inherited conditions, and preventing complications. This preconception screening is especially useful in cases of family history, failed IVF attempts, or recurrent miscarriages.

During pregnancy, all women—regardless of age or medical history—are candidates for genetic screening. The tests focus on both maternal health and fetal development, aiming for early detection of chromosomal or genetic anomalies.

When Is Genetic Embryo Testing Performed?

PGT takes place in consecutive stages depending on the trimester and the specific objectives of each screening phase. Initial tests can begin as early as the 10th week of pregnancy, including blood work and ultrasound to assess general fetal development and screen for Down syndrome, cardiac anomalies, or inherited conditions like cystic fibrosis.

Tiny newborn fingers grip an adult’s hand — a tender moment after preimplantation genetic testing ensured a healthy embryo development.

In the second trimester, between weeks 14 and 18, more targeted tests are conducted such as the quadruple marker screen, which evaluates the likelihood of neural tube defects and chromosomal abnormalities. Complementary to this, the anatomy scan examines all fetal organs in detail. At Fertulity, we ensure that every step of PGT is precisely scheduled and tailored to the needs and medical history of each woman or couple.

Joyful parents smiling with their healthy baby after preimplantation genetic testing ensured a genetically sound embryo and happy family.

What Is the Cost of Genetic Embryo Testing?

The cost of PGT varies depending on the type, scope, and timing of the examinations selected. Basic blood tests and ultrasounds from the first and second trimesters are usually part of prenatal care packages. However, if advanced genetic tests such as CVS or amniocentesis are needed, the cost increases due to the complexity and diagnostic nature of these procedures.

At Fertulity, we offer transparent pricing, ensuring that every couple is informed in advance about all available options and financial considerations. At the same time, we work to ensure access to critical testing with flexible packages and personalized solutions that reflect the real needs of aspiring parents. For us, high-quality genetic screening is not a privilege—it’s a fundamental right for every couple dreaming of a healthy child.

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Frequently Asked Questions About Genetic Embryo Testing (PGT)

How is PGT different from traditional prenatal screening?

PGT is performed before embryo implantation as part of the IVF process, allowing for early-stage analysis of the embryo’s genetic material. In contrast, traditional prenatal screening takes place during pregnancy through blood and ultrasound tests. PGT offers the advantage of selecting genetically healthy embryos in advance, increasing the chances of a successful pregnancy and reducing the risk of genetic disorders.

Is the PGT procedure safe for the embryo?

Yes, PGT is considered completely safe when performed by trained specialists. The embryo biopsy takes place at the blastocyst stage, involving the removal of a few cells from the outer layer (trophectoderm), without affecting embryonic development. At Fertulity, we follow certified bioethics and micromanipulation protocols to ensure the embryo’s integrity and viability.

Which genetic disorders can PGT detect?

PGT can detect a wide range of chromosomal and single-gene disorders. These include Down syndrome, Rett syndrome, cystic fibrosis, beta-thalassemia, Duchenne muscular dystrophy, and Huntington’s disease. It can also identify balanced translocations or structural chromosome abnormalities. At Fertulity, the testing process is tailored to each couple’s needs based on their medical history and genetic evaluation.

Who should consider PGT?

PGT is especially recommended for couples with a history of genetic disorders, recurrent miscarriages, failed IVF attempts, or women over the age of 38–40. It’s also useful in cases where one partner carries a known gene mutation or chromosomal abnormality. Fertulity’s expert team evaluates each case individually and advises whether PGT is the right approach.

How long does it take to receive PGT results?

PGT results are typically available within 7 to 14 business days after embryo biopsy. During this time, the embryos are safely cryopreserved. Once results are ready, embryo transfer is scheduled using a genetically healthy embryo, maximizing implantation and pregnancy success rates.

Our Doctors

In an era where fertility requires knowledge, care, and substantial guidance, FertUlity is not an impersonal clinic. It is two people who look you in the eye and accompany you step by step on the journey you dream of.

Dr. Maria Oikonomou Obstetrician – Gynecologist

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Dr. Chrysostomos (Makis) Papadopoulos Obstetrician – Gynecologist, MD, PhDc, MIC I

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