NIFT Pro by GenePlanet is the most advanced noninvasive prenatal test (NIPT). It offers a genome-wide screening approach for common and rare chromosomal abnormalities. This test extends beyond standard NIPT by analyzing the entire fetal genome, detecting not only trisomies and sex chromosome aneuploidies but also subchromosomal duplications and deletions across all chromosomes. Using cutting-edge next-generation sequencing (NGS) and sophisticated bioinformatics algorithms, NIFT Pro provides unparalleled accuracy in detecting chromosomal imbalances that could impact fetal development.
The test is performed as early as the 10th week of pregnancy using a simple maternal blood sample. It analyzes cell-free fetal DNA (cffDNA), which originates from the placenta and circulates in maternal blood. The fetal chromosomal structure is detailed through massively parallel sequencing (MPS) and high-resolution bioinformatics analysis. This approach allows for early risk assessment of genetic conditions, providing expectant parents with the most comprehensive chromosomal screening available today.
Detection of Common Chromosomal Abnormalities
Like other NIFT options, NIFT Pro detects the most frequently occurring trisomies:
- Trisomy 21 (Down Syndrome): The most common chromosomal disorder, occurring in 1 in 700 live births. It is characterized by intellectual disability, distinct facial features, and congenital heart defects.
- Trisomy 18 (Edwards Syndrome): A severe genetic condition affecting 1 in 5.000 pregnancies, leading to profound developmental delays, congenital heart defects, and high neonatal mortality.
- Trisomy 13 (Patau Syndrome): A rare but serious disorder found in 1 in 10.000 pregnancies, causing severe brain malformations, cleft lip and palate, congenital heart defects, and high infant mortality.
The test also identifies sex chromosome aneuploidies, which involve missing or extra copies of the X and Y chromosomes:
- Turner Syndrome (45, X): Affects females, leading to short stature, ovarian dysfunction, and congenital heart abnormalities.
- Klinefelter Syndrome (47, XXY): Affects males, often resulting in taller stature, infertility, and mild learning disabilities.
- Triple X Syndrome (47, XXX): Affects females, typically associated with mild learning and language difficulties.
- Jacob’s Syndrome (47, XYY) affects males, leading to increased height and a slightly elevated learning and behavioral challenges risk.
Genome-wide microdeletion and microduplication screening
Unlike standard NIPT, which primarily detects full chromosome aneuploidies, NIFT Pro screens for subchromosomal abnormalities, including microdeletions and microduplications. These conditions involve the loss or gain of small chromosomal segments, which can have significant developmental and medical consequences. Among the syndromes detected are:
- 22q11.2 Deletion Syndrome (DiGeorge Syndrome): Affects the immune system, heart, and brain development, causing congenital heart defects, cleft palate, and learning difficulties.
- 1p36 Deletion Syndrome: This leads to developmental delays, intellectual disability, seizures, and congenital heart abnormalities.
- Cri-du-chat Syndrome (5p Deletion Syndrome): Causes intellectual disability, characteristic facial features, and a distinct high-pitched cry in infants.
- Prader-Willi Syndrome (15q11-q13 Deletion): Results in intellectual disability, compulsive eating behaviors, and hormone imbalances.
- Angelman Syndrome (15q11-q13 Deletion): Characterized by severe developmental delays, epilepsy, and coordination difficulties.
Additionally, NIFT Pro identifies rare chromosomal duplications and deletions affecting any part of the genome. This includes copy number variations (CNVs), which can contribute to neurological, developmental, and congenital disorders. This level of analysis provides a detailed genetic profile of the fetus, making it the most extensive prenatal screening option available.
Scientific Methodology: High-Resolution Genomic Analysis
NIFT Pro applies advanced sequencing and computational techniques to achieve unparalleled detection accuracy:
- Massively Parallel Sequencing (MPS) involves exact sequencing of millions of DNA fragments to detect chromosomal abnormalities.
- Fetal Fraction Quantification: The proportion of fetal DNA in maternal blood is measured to ensure accurate results.
- Computational Variant Analysis: Machine learning algorithms analyze DNA fragment distributions, identifying large-scale and subchromosomal anomalies.
- Genome-Wide Screening: Unlike standard NIPT, which focuses on specific chromosomes, NIFT Pro evaluates all 23 chromosome pairs, providing a complete chromosomal risk profile.
Clinical Applications and Benefits
NIFT Pro is particularly valuable for pregnancies where:
- Ultrasound findings suggest possible chromosomal abnormalities.
- Advanced maternal age increases the risk of aneuploidies.
- A family history of genetic disorders necessitates broader screening.
- A previous pregnancy involved chromosomal abnormalities.
- A more comprehensive assessment beyond standard NIPT is desired.
By combining chromosomal aneuploidy detection, microdeletion/microduplication analysis, and genome-wide screening, NIFT Pro provides the most detailed prenatal genetic analysis available. The non-invasive nature, high accuracy, and extensive scope of genetic evaluation make it an invaluable tool for early prenatal screening, offering reliable insights into fetal chromosomal health with unprecedented depth and precision.
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