Prenatal Care and Testing

There are many factors that can qualify a high-risk pregnancy. Including:

• Being over age 35, and sometimes under age 17
• Carrying multiples (twins, triplets or more)
• Carrying a baby with a known birth defect
• Developing a pregnancy complication such as gestational diabetes and preeclampsia or problems with the uterus, cervix or placenta
• Having a chronic medical condition known to impact pregnancy, such as diabetes, high blood pressure, kidney disease or epilepsy
• Having one or more risk factors for a birth defect, such as a family history of genetic disorder
• Having a viral or bacterial disease that could pose a risk to your baby, such as hepatitis C, rubella, HIV, cytomegalovirus, chickenpox, toxoplasmosis or syphilis
• Having had several miscarriages
• Having Rh sensitization 
• Having taken a drug during pregnancy known to impact fetal development
• Going through cancer treatment during pregnancy
• Previously having a premature birth or high-risk pregnancy
   

Full integrated screening has the highest accuracy in detecting increased risk of birth defects. In general, all three tests (two blood tests and the NT ultrasound) combine for an accuracy of:

• 97% for anencephaly
• 90% for Down syndrome
• 85% for abdominal wall defects
• 81% for trisomy 18
• 80% for spina bifida
• 60% for Smith-Lemli-Opitz Syndrome (SLOS)

Serum (blood) integrated screening has an accuracy of:

• 97% for anencephaly
• 85% for Down syndrome
• 85% for abdominal wall defects
• 80% for spina bifida
• 79% for trisomy 18
• 60% for Smith-Lemli-Opitz Syndrome (SLOS)
   

Research studies show that NIPT correctly identifies women carrying fetuses with Down syndrome as “high risk” 99% of the time. Its sensitivity is lower for trisomy 18, trisomy 13 and sex chromosomal differences.

You may benefit from genetic counseling and prenatal testing if:

• You’re pregnant and under age 35, but would like more accurate screening for Down syndrome.
• You’re pregnant and will be 35 years or older on your due date.
• You’re pregnant and have an abnormal screening test result, like a positive expanded AFP blood or integrated screening result.
• You’re a carrier of an X-linked disease such as Fragile X, hemophilia or muscular dystrophy.
• You’ve had an ultrasound of your fetus showing a possible birth defect.
• You have a child or other close relative with a birth defect or genetic disease.
• You’ve been exposed to medications, X-rays, infections or other agents during your pregnancy that may be harmful to the developing fetus.
• You’ve had a miscarriage or death of a child.
• You have a current health issue that could complicate your pregnancy.
• You and your partner are carriers of a recessively inherited disease such as Tay-Sachs, sickle cell anemia, cystic fibrosis or thalassemia. 
• You and your partner are closely related to each other (such as first cousins).