About Down Syndrome
Key Highlights
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Provides a definitive genetic diagnosis through chromosomal analysis (karyotyping).Enables early intervention and personalized healthcare planning from infancy.Offers comprehensive genetic counseling for families regarding recurrence risks and future pregnancies.Coordinates multidisciplinary care involving cardiologists, endocrinologists, and developmental specialists.Facilitates access to support services, educational resources, and community networks.
Who is this surgery for?
- Abnormal results on prenatal screening tests (e.g., first-trimester combined test, NIPT, quad screen).
- Advanced maternal age (typically over 35 years), a known risk factor.
- Presence of soft markers for chromosomal abnormalities on a prenatal ultrasound.
- Clinical features suggestive of Down syndrome in a newborn (e.g., hypotonia, single palmar crease, upward-slanting eyes).
- Family history of chromosomal rearrangements or a previous child with Down syndrome.
How to prepare
- For prenatal testing: A detailed counseling session to discuss the purpose, benefits, and risks of procedures like amniocentesis or CVS.
- Review of personal and family medical history with the genetic counselor.
- For postnatal diagnosis: No specific physical preparation is needed for the blood draw for karyotyping.
- Psychological preparation and ensuring support systems are in place for receiving the diagnosis.
- Signing informed consent forms after understanding the implications of genetic testing.
Risks & possible complications
- For Diagnostic Procedures (CVS/Amniocentesis): Small risk of miscarriage, infection, or amniotic fluid leakage.
- Potential for psychological distress or anxiety associated with receiving a diagnosis.
- Possible implications for family dynamics and future family planning decisions.
- Very rare risk of diagnostic error or ambiguous results requiring further testing.
- No physical risks associated with the postnatal blood test for karyotyping.
Recovery & hospital stay
- After invasive prenatal procedures: Short rest is advised; monitoring for signs of cramping, bleeding, or fluid leakage is essential.
- Postnatal diagnosis involves no recovery from the blood test itself.
- The primary focus is on initiating early intervention services, such as physical, occupational, and speech therapy.
- Schedule regular follow-ups with a geneticist and pediatrician for growth, development, and health screenings.
- Engage with support groups and educational resources for long-term care planning and family support.
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Typical hospital stay: 0 days (outpatient) or 1 day (if associated with delivery or other surgical care)
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Expected recovery time: Not applicable for diagnostic testing; lifelong management and support
Frequently Asked Questions
If you are considering down syndrome in Turkey, these questions and answers can help you make a confident, informed decision.
Top-rated hospitals in Turkey with genetic medicine departments and experienced surgeons are ideal for this procedure. Use MediFyr to compare facilities, reviews, and doctor profiles before you decide.
Look at the doctor’s years of experience, hospital association, patient reviews, and how often they perform down syndrome. MediFyr helps you compare genetic medicines and book consultations online.
The overall cost depends on hospital category, surgeon’s experience, room type, implant or device used (if any), length of stay, tests, and post-operative care. Our team can help you get cost estimates from multiple hospitals before you decide.
Procedure cost in other countries
Here is an overview of how the estimated cost, hospital stay, and recovery time for down syndrome compare across other countries where we have data.
| Country | Estimated cost range | Typical stay | Recovery time | View details |
|---|---|---|---|---|
| India | USD 55 – USD 275 | 0 days (outpatient) or 1 day (if associated with delivery or other surgical care) | ~ Not applicable for diagnostic testing; lifelong management and support | Know More |
| Turkey | USD 410 – USD 2,049 | 0 days (outpatient) or 1 day (if associated with delivery or other surgical care) | ~ Not applicable for diagnostic testing; lifelong management and support | Know More |
Vikram Iyer, a 32-year-old software engineer,...
Vikram Iyer, a 32-year-old software engineer, and his wife Priya, 30, were expecting their first child. Their 20-week anatomy scan revealed several 'soft markers,' including an absent nasal bone and an increased nuchal fold. Their obstetrician, concerned about the findings, referred them to a genetic counselor. The counselor explained that these markers could indicate Down syndrome, but were not definitive. She recommended a diagnostic procedure called amniocentesis to analyze the baby's chromosomes for a clear answer. The procedure itself was quick, guided by ultrasound, with Priya feeling only mild pressure. The two-week wait for results was agonizing, filled with anxiety, 'what-ifs,' and deep conversations about their future as parents. The results confirmed Trisomy 21 (Down syndrome). While initially heartbroken and fearful of the unknown, the definitive diagnosis allowed them to process their emotions, connect with a support group for expectant parents, and meet with a pediatric specialist. They shifted from fear to proactive preparation, choosing a name, Aarav, and focusing on educating themselves to welcome their son with love and readiness.