Advanced NIPT

1) What Is Advanced NIPT?

Advanced NIPT is an enhanced version of the basic NIPT test. It analyzes cell‑free fetal DNA (cffDNA) in maternal blood using higher sequencing depth and advanced bioinformatics to detect a wider range of genetic abnormalities.

It includes all basic NIPT targets plus additional chromosomal and genomic abnormalities.

2) What Advanced NIPT Screens For

A) Rare Autosomal Trisomies (RATs)

These are trisomies other than 21, 18, and 13. Examples:

• Trisomy 9
• Trisomy 16
• Trisomy 22

Many RATs are associated with confined placental mosaicism, fetal growth restriction, or pregnancy complications.

B) Microdeletions & Microduplications

Advanced NIPT can detect clinically significant copy number variations .Common microdeletion syndromes include:

• 22q11.2 deletion (DiGeorge syndrome)
• 1p36 deletion syndrome
• 5p deletion (Cri‑du‑chat syndrome)
• 15q11‑q13 deletion (Prader‑Willi / Angelman)
• 4p deletion (Wolf‑Hirschhorn syndrome)

These conditions often cause congenital anomalies, developmental delay, and cardiac defects.

C) Fetal Sex & Sex Chromosome Abnormalities

Included in most advanced panels:

• Turner syndrome (45,X)
• Klinefelter syndrome (47,XXY)
• Triple X, XYY

 3) Clinical Importance of Advanced NIPT

✔ 1) Broader Genetic Coverage

Detects abnormalities not included in basic NIPT, providing a more comprehensive fetal genetic assessment.

✔ 2) Useful When Ultrasound Shows Abnormal Findings

If ultrasound reveals:

• Cardiac defects
• Increased nuchal translucency
• Structural anomalies Advanced NIPT helps identify underlying genetic causes.

✔ 3) Helpful for High‑Risk Pregnancies

Recommended for:

• Previous pregnancy with chromosomal abnormalities
• Family history of genetic disorders
• IVF pregnancies
• Advanced maternal age
• Abnormal biochemical screening

✔ 4) Early Detection of Serious Genetic Syndromes

Microdeletions often have significant clinical consequences. Early detection allows:

• Early fetal echocardiography
• Maternal‑fetal medicine referral
• Planning for neonatal care

It is screening not diagnostic test.so, positive results must be confirmed with:

• CVS (Chorionic Villus Sampling)
• Amniocentesis
  
  
  
• When can you do advanced NIPT ?

Can be performed from 12 weeks