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Cell-Free DNA Screening (NIPT)

High-sensitivity chromosomal screening via fetal DNA analysis from maternal blood.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kadın Hastalıkları ve Doğum department. Book Appointment →

What is Cell-Free DNA Screening (NIPT)?

NIPT (cell-free DNA) is the analysis by next-generation sequencing of fetal DNA fragments that pass from the placenta into maternal blood. It can be performed from the 10th week of gestation and requires only a maternal blood sample.

Sensitivity for Trisomy 21 (Down), Trisomy 18 (Edwards), and Trisomy 13 (Patau) exceeds 99%. Sex chromosome abnormalities (Turner, Klinefelter) and certain microdeletion syndromes can also be screened.

NIPT is a screening test; positive results must be confirmed with amniocentesis or CVS for definitive diagnosis. It is especially recommended in high-risk pregnancies (advanced age, history) and may be used as alternative screening in low-risk pregnancies.

Symptoms

Advanced maternal age (>=35)
Previous chromosomally abnormal pregnancy
Family history of inherited disease
High risk on combined test (1/1000-1/250)
Soft markers on ultrasound
IVF or IUI pregnancy

Risk Factors

Advanced maternal age
Obesity (low fetal fraction)
Multiple pregnancy (applicable in twins)
Low placental fraction
Vanishing twin (misleading result)
Maternal chromosome abnormality

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • For testing from the 10th week of gestation
  • As an alternative when the dual test shows high risk
  • As primary screening in advanced maternal age
  • For confirmation when NIPT is positive
  • When sex chromosome abnormality is suspected

Treatment Methods

01
cffDNA analysis from maternal blood between weeks 10-22
02
Results are typically reported within 7-10 days
03
Positive result: confirmation by amniocentesis or CVS
04
Negative result: low residual risk, continue routine follow-up
05
Failed test: repeat or alternative screening
06
Interpretation of results with genetic counseling

Which Department to Visit?

You can visit our Kadın Hastalıkları ve Doğum department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Kadın Hastalıkları ve Doğum Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.