Genetic Testing Services

Our Genetic Testing Services offer advanced screening and diagnostic options to help you make informed decisions about your fertility treatment and pregnancy. Using cutting-edge technology, we can identify genetic conditions and chromosomal abnormalities to improve your chances of a healthy pregnancy.

Why Genetic Testing?

Genetic testing can help:

  • Identify embryos with the best chance of successful implantation
  • Reduce the risk of miscarriage
  • Screen for inherited genetic conditions
  • Detect chromosomal abnormalities early in pregnancy
  • Provide information for informed family planning decisions

Our Genetic Testing Services

PGT-A (Preimplantation Genetic Testing for Aneuploidy)

What is it? PGT-A screens embryos created through IVF for chromosomal abnormalities (aneuploidy) before transfer. Embryos with the correct number of chromosomes have a higher chance of implantation and healthy pregnancy.

Who should consider PGT-A?

  • Women aged 35 and over
  • Couples with recurrent miscarriage
  • Couples with previous failed IVF cycles
  • Couples with a history of chromosomally abnormal pregnancies

How it works:

  1. Embryos are created through IVF/ICSI
  2. A small biopsy is taken from each embryo at the blastocyst stage (day 5-6)
  3. The cells are analysed for chromosomal abnormalities
  4. Only chromosomally normal embryos are selected for transfer

PGT-M (Preimplantation Genetic Testing for Monogenic Disorders)

What is it? PGT-M tests embryos for specific inherited genetic conditions when one or both parents are known carriers of a genetic disorder.

Conditions that can be tested:

  • Sickle cell disease
  • Thalassemia
  • Cystic fibrosis
  • Spinal muscular atrophy (SMA)
  • Huntington’s disease
  • BRCA gene mutations
  • Many other single-gene disorders

Who should consider PGT-M?

  • Known carriers of genetic conditions
  • Couples with a family history of genetic disorders
  • Couples who have had a child affected by a genetic condition

PGD (Preimplantation Genetic Diagnosis)

What is it? PGD is the original term for genetic testing of embryos, now largely replaced by PGT-M and PGT-A. It refers to testing embryos for specific genetic conditions before transfer during IVF treatment.

Benefits:

  • Prevents transmission of genetic diseases to children
  • Avoids the difficult decision of terminating an affected pregnancy
  • Allows couples with genetic conditions to have healthy biological children

NIPT (Non-Invasive Prenatal Testing)

What is it? NIPT is a highly accurate blood test performed during pregnancy that screens for common chromosomal conditions by analysing cell-free fetal DNA in the mother’s blood.

What does NIPT screen for?

  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)
  • Sex chromosome conditions
  • Fetal sex determination (optional)

When is it performed? NIPT can be done from 10 weeks of pregnancy onwards.

Who should consider NIPT?

  • All pregnant women seeking reassurance
  • Women with abnormal first trimester screening results
  • Women aged 35 and over
  • Women with a previous pregnancy affected by chromosomal abnormality
  • Women who want to avoid invasive testing (amniocentesis)

Advantages of NIPT:

  • Non-invasive (simple blood test)
  • No risk to the pregnancy
  • Highly accurate (>99% for common trisomies)
  • Early results (from 10 weeks)

ERA Test (Endometrial Receptivity Analysis)

What is it? The ERA test analyses the endometrial lining to determine the optimal window for embryo transfer, helping to personalise the timing of your frozen embryo transfer.

Who should consider ERA?

  • Women with recurrent implantation failure
  • Women who have had good quality embryos but unsuccessful transfers
  • Women undergoing frozen embryo transfer

How it works:

  1. A small biopsy of the endometrial lining is taken
  2. The sample is analysed to determine receptivity status
  3. Results indicate if your endometrium is receptive, pre-receptive, or post-receptive
  4. Your embryo transfer is timed according to your personalised window

The Testing Process

For PGT-A/PGT-M:

  1. Consultation — Discussion of your medical history and testing options
  2. IVF cycle — Ovarian stimulation, egg retrieval, and fertilisation
  3. Embryo culture — Embryos are grown to blastocyst stage (day 5-6)
  4. Biopsy — A few cells are carefully removed from each embryo
  5. Analysis — Samples are sent to a specialist genetics laboratory
  6. Results — Usually available within 1-2 weeks
  7. Embryo transfer — Healthy embryos are transferred or frozen for later use

For NIPT:

  1. Blood draw — Simple blood sample from the mother
  2. Laboratory analysis — Cell-free DNA is analysed
  3. Results — Usually available within 7-10 days
  4. Consultation — Discussion of results and next steps if needed

Understanding Your Results

Our team will explain your results in detail, including:

  • What the results mean for your pregnancy or treatment
  • Any additional testing that may be recommended
  • Your options based on the findings
  • Support resources available to you

Genetic Counselling

We offer genetic counselling to help you:

  • Understand your genetic testing options
  • Interpret test results
  • Make informed decisions about your care
  • Access emotional support throughout the process

Book a Consultation

If you’re interested in genetic testing or would like to learn more about your options, our team is here to help. Contact us at info@salamivf.com or call +973 1725 5095 to schedule a consultation.