This test provides critical information to guide decision-making during pregnancy and helps in planning appropriate postnatal care.
Conventional karyotyping
- CVS
- Amniotic fluid
- Cord blood
Non-invasive prenatal screening (NIPT)
NIPT is a screening method used during pregnancy to detect certain genetic conditions in a fetus, such as Down syndrome (trisomy 21), trisomy 18, trisomy 13, and other chromosomal abnormalities. Unlike traditional invasive procedures like amniocentesis or chorionic villus sampling (CVS), which carry a small risk of miscarriage, NIPT is performed through a simple blood draw from the mother, making it a safer option for both the mother and the baby. First introduced clinically in 2011, NIPT has quickly become a widely used tool in prenatal care, providing valuable insights into fetal health.
How It Works:
NIPT analyzes small fragments of fetal DNA that are present in the mother's blood. These fragments, known as cell-free DNA (cfDNA), come from the placenta and are identical to the DNA of the fetus. By analyzing this cfDNA, NIPT can determine whether there are any abnormal chromosome numbers in the fetus.
Limitations of NIPT
While NIPT is highly accurate, it is not diagnostic, making confirmatory testing essential before making any irreversible pregnancy decisions. The test does not detect polyploidy, birth defects such as neural tube defects, single-gene disorders, or conditions like autism. Additionally, there is a small possibility that the results may reflect chromosomal changes in the placenta (Confined Placental Mosaicism, CPM) or the mother, rather than the fetus.
More information @ NIPT24 website.
Prenatal WES
Prenatal Whole Exome Sequencing (WES) is an advanced genetic test that sequences all protein-coding regions of the genome to identify mutations responsible for developmental abnormalities or unexplained conditions in a fetus. Prenatal WES provides crucial genetic insights, aiding in decision-making during pregnancy and planning postnatal care.
It is particularly indicated for cases with
- Abnormal ultrasound findings
- Previous unexplained pregnancy losses
- Known parental carriers of genetic disorders
- Inconclusive results from other tests
- Fetal growth restriction
Prenatal WGS
Prenatal Whole Genome Sequencing (WGS) is a comprehensive genetic test that sequences the entire genome, offering a broader scope than Whole Exome Sequencing (WES) by analyzing both coding and non-coding regions of DNA. It is especially useful in cases where traditional tests, including WES, do not provide a definitive diagnosis. This test can identify a wide range of genetic variations, offering invaluable insights for managing the pregnancy and planning for postnatal care.
Prenatal WGS is indicated for fetuses with
- Unexplained abnormalities detected on ultrasound
- Previous unexplained pregnancy losses
- Known family history of genetic disorders.
Prenatal MicroArray
Prenatal Microarray Analysis is a genetic test that detects chromosomal abnormalities at a higher resolution than traditional karyotyping, identifying gains or losses of chromosome segments that may lead to developmental issues or genetic disorders in the fetus.
It is indicated for pregnancies with
- Family history of chromosomal disorders
- Structural chromosomal abnormalities
- Abnormal ultrasound findings
- Unexplained fetal growth restriction
- Previous pregnancy losses with no clear cause
Prenatal SNPArray
Prenatal SNP Array is a genetic test that uses single nucleotide polymorphism (SNP) technology to detect both large and small chromosomal abnormalities, including copy number variations (CNVs) and uniparental disomy (UPD), with greater precision than traditional methods.
It is particularly indicated for pregnancies with
- Abnormal ultrasound findings
- Unexplained fetal growth restriction
- Recurrent pregnancy losses