Let's Talk About Down Syndrome

2020-01-23

Dr. Meriç K. M.D. - IVF Turkey Obstetrician and Gynaecologist Down syndrome occurs when an abnormal sperm or an egg cell fertilises with a normal sperm or an egg cell. As a result of this fertilisation the baby has 47 chromosomes (with 3 chromosomes 21). This…

Dr. Meriç K. M.D. - IVF Turkey Obstetrician and Gynaecologist Down syndrome occurs when an abnormal sperm or an egg cell fertilises with a normal sperm or an egg cell. As a result of this fertilisation the baby has 47 chromosomes (with 3 chromosomes 21). This syndrome is characterised by intellectual disabilities, visual structural defects, hearing and seeing disorders and other health problems. These defects may vary (mild to severe) from one individual to another. In these babies, Down syndrome is accompanied by structural heart defects around 40-50 percent. Hearing and seeing disorders (cataract, farsightedness or short-sightedness, misaligned eyes , etc.) exist in 50 percent of the cases. Again, 10 percent of these babies suffer from gastrointestinal abnormalities. Down syndrome cannot be treated. The only solution is prevention and prevention is possible through fetal early detection. DOWN SYNDROME SCREENING AND DIAGNOSTIC TESTS DURING PREGNANCY For the final diagnosis of Down syndrome, various screening tests have been developed to minimise diagnostic tests including Chorionic villus sampling (CVS), amniocentesis and cordocentesis which have the possibility to harm the baby (1/200 risk of a miscarriage). The risk of conceiving a child with Down syndrome increases with the age of the mother This risk manifests itself as: At the age of 25 1 in 1250 pregnancies At the age of 30 1in 1000 pregnancies At the age of 35 1 in 400 pregnancies At the age of 40 1 in 100 pregnancies Therefore, one of the oldest and most conventional screening tests is advancing maternal age. With this method, if the age of 37 is taken as a limited value 30 percent of fetuses with Trisomy 21 can be caught. In addition to the maternal age, in the late 1980s, a triple test measuring hormones in the maternal serum -namely alpha-fetoprotein (AFP), estriol (E3) and human chorionic gonadotropin (HCG)- between gestational weeks 16-20 was developed and is still in use. This test can detect 60 percent of fetuses with Down syndrome. In the last decade, maternal age and nuchal translucency screening tests have started to be evaluated together between gestational weeks 11-14 as a screening method. This procedure has allowed the detection of 75 percent of fetuses with Down syndrome. If a blood test measuring PAPP-A (Pregnancy Associated Protein A) and BhCG (human chorionic gonadotropin) are to be added to both parameters between gestational weeks 11-14, this test is capable of detecting chromosomal abnormality up to 90 percent.  

How Down syndrome screening and IVF affects IVF planning

This topic is most useful when it is connected to a specific treatment decision. Patients should not treat general fertility information as a replacement for diagnosis, but it can help them ask better questions before choosing a protocol, clinic, or travel date. A practical consultation should identify the main barrier to pregnancy, the tests that are still missing, the options that are realistic, and the steps that are optional rather than urgent.

For IVF Turkey patients, the planning conversation should include ovarian reserve, sperm quality, previous pregnancy history, prior IVF or IUI attempts, medication use, surgery history, and any known genetic or family-history concerns. These details help the medical team decide whether the next step is standard IVF, ICSI, embryo freezing, embryo transfer, male-factor review, genetic counseling, or another preparation step before treatment begins.

International patients should also connect the medical plan with logistics. Treatment in Turkey may involve tests before travel, ultrasound monitoring, medication timing, egg retrieval, fertilization updates, embryo development, transfer planning, and follow-up after returning home. Patients should confirm the expected stay length, what records must be shared in advance, and how the clinic will communicate instructions during the cycle.

Questions to ask in consultation

  • Which test results are needed before the treatment protocol can be chosen?
  • Does this topic change embryo transfer timing, medication choice, or the need for extra testing?
  • Should male fertility, tubal status, or genetic history be reviewed before the cycle starts?
  • What costs are fixed, and which costs depend on medication, ICSI, genetic testing, freezing, or follow-up?
  • What symptoms, delays, or results should prompt the patient to contact the care team quickly?

Useful next steps include reviewing IVF cost in Turkey, understanding embryo transfer, and asking IVF Turkey for a case-specific review. Depending on the history, patients may also need low sperm count, varicocele and male fertility, genetic disorder screening, PGD embryo biopsy, egg freezing in Turkey, or IVF in Turkey for American patients.

The goal is to leave the consultation with a clear order of action: what to do now, what to monitor during treatment, what can wait, and how success or next steps will be evaluated. That order matters for patients who are trying to avoid unnecessary delay while still making a medically grounded decision.

Patients should also ask how the care team will measure progress after the first decision is made. For some couples, the next milestone is completing missing tests. For others, it is confirming medication response, fertilization, embryo quality, or pregnancy follow-up. Clear milestones make it easier to know whether the plan is working and when it should be adjusted.

This is especially important for patients traveling for care because every extra visit, medication change, or laboratory decision can affect timing and budget. A written plan should explain who to contact, which results need urgent review, and what information should be shared with the patient's local doctor after returning home.

Patients should leave the conversation knowing the next practical action: send records, repeat a test, schedule monitoring, adjust medication, plan travel, or wait for a defined result. That clarity is a stronger signal of useful care than a long list of optional add-ons.