Optional Testing

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Optional Testing

We are proud to offer the following optional testing:

  1. Genetic carrier screening which helps couples determine risk of passing serious genetic conditions to their child.  
  2. First trimester screening, Quad Screen, combined screening, and Non-invasive prenatal testing (NIPT) which can identify chromosomal abnormalities during pregnancy.

Genetic carrier screening

This blood test can be offered to couples prior to or during pregnancy. It helps to identify if you or your partner carry any altered genes which may impact your child. When done prior to conception it can provide knowledge and the opportunity to seek alternative reproductive options. When done during pregnancy, couples can decided on prenatal or infant diagnostic testing and prepare ahead of time for a child affected by a genetic condition.

 

Testing screens for genes associated with specific inherited genetic conditions, including commonly screened conditions such as:

  1. Cystic fibrosis
  2. Spinal muscular atrophy
  3. Fragile X syndrome
  4. Sickle cell anemia

Spina bifida or open neural tube defects: This is where the spinal cord doesn’t close correctly and can be tested for by a blood draw at around 15-21 weeks.

NIPT testing can be performed as early as ten weeks gestation and offers the highest level of screening for the following conditions:

Trisomy 21 (Down syndrome)

Down syndrome is a genetic disorder where there are three copies of chromosome 21 which can lead to intellectual disability and developmental delays ranging from mild to severe. Children may require extra medical care depending on specific health problems as multiple organ systems may be involved. Approximately 1 in 700 babies are born with Down syndrome.

Trisomy 18 (Edwards syndrome)

This is a genetic disorder where there are three copies of chromosome 18. Babies will have severe intellectual disabilities, low birth weight, and various congenital anomalies involving brain, heart, and kidneys. Most pregnancies with Trisomy 18 will result in miscarriage. If born alive, most babies will pass away within the first year of life. Trisomy 18 occurs in about 1 in 3,000 live births.

Trisomy 13 (Patau syndrome)

Rare genetic disorder where there are three copies of chromosome 13. Babies often will have severe intellectual disability and birth defects. Heart, brain, and kidneys can be involved. Some visible abnormalities can include cleft lip or palate, extra fingers and/or toes. Majority of pregnancies with trisomy 13 will result in miscarriage. If born alive, most babies will pass away within first year of life. Trisomy 13 occurs in about 1 in 6,000 live births.

Non-invasive prenatal testing also screens for extra or missing copies of X and Y chromosomes (sex chromosomes) and could reveal increased risks for other genetic abnormalities. It could also tell you the fetal rhesus (Rh) blood type and the sex of your baby.

Non-invasive prenatal testing is a screening test and is not used to make a final diagnosis. Any abnormal testing should be discussed with your medical provider. Diagnostic testing can be offered during pregnancy, like chorionic villus sampling or amniocentesis.

Please note that while we encourage you to consider these optional tests, it is ultimately your decision whether to have them performed. If you have any questions about these tests or would like to schedule an appointment for testing, please do not hesitate to contact our office.