Prequel NIPT Total Advance

Fetal Analysis

(Karyo Advance + 102 Monogenic):

• All aneuploidies including rare trisomies (9, 13, 16, 18, 21)
• All sex chromosome conditions
• Genome-wide CNVs >7Mb (karyotype-level)
• 23 microdeletions <1Mb (DiGeorge, Prader-Willi, Angelman, Cri-du-chat, 1p36, Wolf-Hirschhorn, etc.)
• 50 dominant/de novo monogenic diseases
• 52 recessive fetal monogenic diseases

Maternal Carrier Screening:

Mini panel for common autosomal recessive and X-linked conditions (see Prequel NIPT Total for details).

Comprehensive Genetic Intelligence

This test provides:

• Maximum fetal chromosomal and single-gene disease detection
• Superior 1Mb CNV resolution
• Widest microdeletion panel
• Maternal carrier status for common recessive disorders
• Reproductive risk assessment for future pregnancies
• Information enabling informed decision-making and pregnancy management

Detection Scope:

• Hundreds of chromosomal abnormalities
• Over 100 fetal monogenic conditions
• Maternal carrier status for 15-20 common genetic diseases
• Combined fetal and parental genetic risk profiling