- Non-Invasive Prenatal Testing (NIPT):
- Description: NIPT, also known as cell-free DNA testing, is a non-invasive screening test that analyzes cell-free fetal DNA circulating in the mother's bloodstream. It can screen for common chromosomal abnormalities, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome), as well as certain sex chromosome abnormalities.
- Indications: NIPT is typically offered to pregnant individuals at increased risk of having a baby with a chromosomal abnormality, such as those with advanced maternal age or a previous pregnancy affected by a chromosomal disorder. It may also be offered as a first-line screening test for all pregnant individuals, regardless of risk factors.
- Accuracy: NIPT is highly accurate for detecting common chromosomal abnormalities, with a low false-positive rate. However, it does not screen for all genetic conditions or birth defects.
- First-Trimester Combined Screening (FTS):
- Description: FTS, also known as the first-trimester screening or the nuchal translucency (NT) scan, combines ultrasound measurement of the fetal nuchal translucency (a fluid-filled space at the back of the baby's neck) with maternal blood tests to assess the risk of chromosomal abnormalities, particularly Down syndrome (trisomy 21) and trisomy 18.
- Timing: FTS is typically performed between 11 and 14 weeks of pregnancy.
- Components: The ultrasound measurement, along with maternal age and certain blood markers (such as pregnancy-associated plasma protein-A and free beta-human chorionic gonadotropin), is used to calculate a risk score for chromosomal abnormalities.
- Advantages and Limitations: FTS provides an early assessment of the risk of chromosomal abnormalities but has a higher false-positive rate compared to NIPT. Positive screening results may be followed by confirmatory diagnostic testing.
- Quad Screen (Second-Trimester Screening):
- Description: The quad screen, also known as the quadruple marker test or second-trimester screening, is a blood test performed between 15 and 20 weeks of pregnancy to assess the risk of certain chromosomal abnormalities and neural tube defects.
- Components: The quad screen measures levels of four substances in the mother's blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin A. Abnormal levels of these substances may indicate an increased risk of conditions such as Down syndrome, trisomy 18, or neural tube defects.
- Sensitivity and Specificity: The quad screen is less sensitive and specific than first-trimester screening or NIPT for detecting chromosomal abnormalities but may still provide valuable information about the risk of certain birth defects.
- Carrier Screening:
- Description: Carrier screening involves testing parents or prospective parents to determine if they carry genetic mutations that could cause a genetic disorder in their offspring.
- Common Conditions: Common genetic conditions screened for in carrier screening include cystic fibrosis, sickle cell disease, thalassemia, Tay-Sachs disease, and spinal muscular atrophy (SMA).
- Timing: Carrier screening is typically performed before or early in pregnancy and may be offered to individuals or couples planning to conceive.
- Prenatal Diagnostic Testing:
- Description: Prenatal diagnostic tests, such as chorionic villus sampling (CVS) and amniocentesis, are invasive procedures that involve sampling fetal cells or fluid to diagnose or rule out certain genetic conditions, chromosomal abnormalities, or birth defects.
- Indications: Prenatal diagnostic testing is typically offered to individuals who have received positive results on screening tests or who have a higher risk of having a baby with a genetic disorder based on family history, maternal age, or other factors.
- Procedures:
- Chorionic Villus Sampling (CVS): Performed between 10-13 weeks, involves taking a sample of placental tissue.
- Amniocentesis: Performed between 15-20 weeks, involves taking a sample of amniotic fluid.
It's important for pregnant individuals to discuss their options for antenatal genetic screening with their healthcare provider, including the benefits, limitations, and potential risks of each test. Counseling and informed decision-making are essential to ensure that individuals make choices that align with their values, preferences, and individual circumstances.
