An invasive procedure that involves collecting cells from the placental chorionic villi for karyotyping and genetic analyses.
It aids in early intervention and management planning.
Cystic fibrosis, Tay-Sachs disease, and sickle cell anemia.
Invasive.
The birth of a child with special needs if a condition is detected or strongly suspected.
To create images of the fetus, assess fetal growth, detect structural abnormalities, and determine gestational age.
Increased risk of Down syndrome and may reflect fetal distress or a dysfunctional placenta.
To detect certain genetic, endocrinologic, and metabolic disorders in newborns early on so that treatment can begin promptly.
To detect neural tube defects, such as spina bifida or anencephaly.
Neural tube defects and abdominal wall defects in the fetus.
Elevated levels of inhibin-A are associated with an increased risk of Down syndrome and enhance detection rates of chromosomal abnormalities.
Informed decisions regarding further testing and management of the pregnancy.
Alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG), unconjugated estriol (uE3), and inhibin-A.
Between 15 and 20 weeks of gestation.
Maternal age > 35 years, previous child with chromosome abnormality, history of structural chromosome abnormality in one parent, family history of a genetic defect, and increased risk of neural tube defects.
To identify pregnancies at higher risk, which may warrant further diagnostic testing.
Phenylketonuria (PKU), congenital hypothyroidism, and cystic fibrosis.
Between 16 and 18 weeks of gestation.
To provide a risk estimate for Down syndrome, Trisomy 18, and neural tube defects.
The level of alpha-fetoprotein (AFP); high levels can indicate neural tube defects or abdominal wall defects in the fetus.
A non-invasive maternal serum screening used to assess the risk of certain fetal conditions.
No, it is a screening test and not diagnostic.
Elevated risk of aneuploidy, such as a positive quadruple screen or abnormal maternal cell-free DNA screening.
Elevated HCG levels can increase suspicion of Down syndrome and very high levels may suggest gestational trophoblastic disease.
To detect aneuploidies and other chromosomal abnormalities through karyotype analysis.
They guide discussions about further diagnostic options, such as amniocentesis or detailed ultrasound evaluation.
To identify carriers of specific genetic traits, particularly in populations with a high prevalence of certain genetic disorders.
A method that can be non-invasive or invasive, involving analysis of cell-free fetal DNA from maternal blood to screen for chromosomal abnormalities.
An invasive procedure performed on embryos created via in vitro fertilization to screen for genetic disorders before implantation.
Certain fetal abnormalities.
As early as 10 weeks of gestation.
Fetal cells for chromosomal abnormalities, biochemical, and molecular analysis.
Between 9.5 and 12.5 weeks of gestation.
