Advanced Genetic Testing for Down Syndrome During IVF

A doctor doing genetic testing for down syndrome

Advances in reproductive medicine have given couples a powerful new tool for family planning. Today, genetic testing for Down syndrome allows prospective parents to understand their embryos’ chromosomal health before pregnancy even begins and plan for parenthood accordingly. Through advanced genetic testing methods like Next-Generation Sequencing (NGS), couples undergoing IVF can select embryos with the correct chromosome count, giving them greater confidence as they build their families.

Down syndrome, also called Trisomy 21, happens when an embryo has an extra copy of chromosome 21. Instead of the typical 46 chromosomes, babies with Down syndrome have 47. This additional genetic material affects physical and cognitive development to varying degrees. With NGS technology now available during IVF treatment, couples can identify chromosomally healthy embryos before transfer.

Advanced genetic testing for Down Syndrome information

What Is Down Syndrome?

Down syndrome is the most common chromosomal condition, occurring in approximately 1 in every 700 live births. The condition results from an extra chromosome 21, which changes how the body and brain develop. The down syndrome karyotype, a visual representation of an individual’s chromosomes, clearly shows three copies of chromosome 21 rather than the usual two.

There are three types of Down syndrome:

  • Trisomy 21 (95% of cases): Every cell contains an extra chromosome 21
  • Translocation (3% of cases): Extra material from chromosome 21 attaches to another chromosome.
  • Mosaic (2% of cases): Only some cells have the extra chromosome

Confirming a Down syndrome diagnosis traditionally required analyzing the Down syndrome karyotype after birth or during pregnancy through amniocentesis. Today, preimplantation genetic testing offers answers before pregnancy begins.

How Genetic Testing Works Before Pregnancy

Traditional Down syndrome screening happens during pregnancy through blood tests and ultrasounds. Preimplantation genetic testing offers a different approach; it screens embryos before they’re transferred to the uterus during IVF.

Couples choose genetic screening with IVF for several reasons:

  • To reduce the risk of chromosomal abnormalities
  • To improve the chances of successful implantation
  • To decrease the likelihood of miscarriage
  • To make informed decisions about embryo selection

This approach benefits women over 35, couples with a family history of genetic conditions, those who have experienced recurrent pregnancy loss, and individuals who want to maximize their chances of a healthy pregnancy.

NGS Technology – The Most Advanced Genetic Screening

An IVF procedure in process

What Is Next-Generation Sequencing?

NGS is the latest breakthrough in genetic testing technology. Unlike older methods that checked only a limited number of chromosomes, NGS can analyze all 24 types of chromosomes with exceptional precision. This technology detects not only chromosome counts but also subtle deletions and duplications that previous testing methods might miss.

How NGS Detects Chromosomal Abnormalities

During IVF, embryos develop in the laboratory for 5-6 days until they reach the blastocyst stage. At this stage, embryologists carefully remove a small sample of cells (usually five or fewer) for genetic analysis.

  • Identify embryos with a normal 46-chromosome count
  • Detect trisomy 21 and other chromosomal abnormalities
  • Achieve 99.9% accuracy in detecting chromosomal issues
  • Provide comprehensive down syndrome diagnosis at the embryo level

Benefits of NGS Testing

NGS testing offers meaningful advantages for couples pursuing IVF:

  • Higher implantation success rates with chromosomally normal embryos
  • Reduced risk of miscarriage due to chromosomal issues
  • Minimized risk of genetic disorders in the pregnancy
  • Informed embryo selection based on comprehensive genetic data

Our NGS Services at Bangkok Central Clinic

At our fertility clinic in Bangkok, we offer Next-Generation Sequencing as part of our comprehensive IVF treatment program. Our advanced laboratory and experienced team of embryologists provide couples with the highest standard of care.

The NGS Process at Our Clinic

Our approach includes:

  • Pre-IVF consultation and thorough assessment
  • Egg retrieval and fertilization (ICSI when needed)
  • Embryo development to the blastocyst stage
  • Careful cell biopsy by expert embryologists
  • NGS screening of all 24 chromosomes
  • Selection and transfer of chromosomally normal embryos

Our NGS technology achieves 99.9% accuracy in detecting chromosomal abnormalities. The embryo biopsy procedure is performed safely by our specialists, causing no harm to embryo viability. Located in central Bangkok at the Conrad Hotel, All Season Place, our clinic welcomes both local and international patients.

Take the Next Step Toward a Healthy Pregnancy

Genetic testing for Down syndrome through NGS technology empowers couples to make informed decisions about their family planning journey. This advanced genetic testing provides peace of mind and significantly improves the chances of a successful, healthy pregnancy.

If you’re considering IVF and want to learn more about Down syndrome screening options, we encourage you to schedule a consultation with our fertility specialists. Our team provides compassionate guidance and personalized care every step of the way.

Contact Bangkok Central Clinic today: Address: No. 87/3, 1st Floor Conrad Hotel, All Season Place, Witthayu Rd., Lumpini, Patumwan, Bangkok 10330

Frequently Asked Questions

Q: Can genetic testing completely prevent Down syndrome in my baby?

A: NGS testing achieves 99.9% accuracy in detecting chromosomal abnormalities, including trisomy 21. While this significantly reduces the risk, no medical procedure is 100% guaranteed. The technology provides couples with highly reliable information for embryo selection. 

Q: Is the embryo biopsy procedure safe for my future baby?

A: Yes. When performed by experienced embryologists, the biopsy involves removing only 5 or fewer cells from the outer layer of the blastocyst. This minimal cell removal does not compromise embryo viability or development.

Q: How long does it take to get NGS test results?

A: Results typically take 1-2 weeks. During this waiting period, embryos are safely cryopreserved. Once results are available, your fertility specialist will schedule a frozen embryo transfer (FET) cycle.

Q: Does insurance cover genetic testing for IVF in Bangkok?

A: Coverage varies by insurance provider and policy. Some insurers cover genetic testing when medically indicated. Our clinic can provide documentation to support insurance claims if needed.

Q: What happens if all my embryos show chromosomal abnormalities?

A: If this occurs, our fertility specialists will discuss your options during a personalized consultation. Genetic counseling is available to help you understand your results and explore next steps, which may include additional IVF cycles or alternative family-building options.

References: 

  1. Centers for Disease Control and Prevention. (2024, December 25). Down Syndrome. Retrieved December 1, 2025, from https://www.cdc.gov/birth-defects/about/down-syndrome.html
  2. National Down Syndrome Society. (n.d.). About Down Syndrome. Retrieved December 1, 2025, from https://ndss.org/about
  3. Minnesota Department of Health. (2025, November 12). Down syndrome (also called Trisomy 21). Retrieved December 1, 2025, from https://www.health.state.mn.us/diseases/cy/downsyndrome.html
  4. Children’s Hospital of Philadelphia. (n.d.). Trisomy 21 (Down Syndrome). Retrieved December 1, 2025, from https://www.chop.edu/conditions-diseases/trisomy-21-down-syndrome
  5. Burt‑Steele, C. A., & Freedman, D. F. (Eds.). (2024). Down syndrome. In StatPearls. Retrieved December 1, 2025, from https://www.ncbi.nlm.nih.gov/books/NBK526016/

Picture of Dr. Tanut Jerachotechueantaveechai

Dr. Tanut Jerachotechueantaveechai

Medical Director, Bangkok Central Clinic IVF & Wellness Dr. Tanut Jerachotechueantaveechai is a specialist in Obstetrics, Gynecology, and Reproductive Medicine, having graduated with first-class honors from Siriraj Hospital in 2010. Dr. Tanut has experience working at Maharaj Nakorn Chiang Mai, Lanna, Chiang Mai Ram, and Phyathai Sriracha hospitals. He previously served as a Medical Director at First Fertility PGS Center Bangkok, and was a special reproductive technology lecturer at Mahidol University. He provides a tailor-made treatment approach, working closely with couples to support their family-planning goals, and achieved an average success rate of 72.5% in 2019. He continuously updates his medical knowledge through international workshops and congresses across Asia-Pacific, Europe, and Australia.