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Genetic Testing


Materni T21/NIPT

It is imperative to call Integrated Genetics (1-844-799-3243) prior to the day of blood work to determine out of pocket cost. Do not call your insurance.

The Maternit21 test is a screening blood test that will help identify whether the fetus has genetic anomalies related to trisomy 21 (down syndrome), 18, 13. NIPT testing is considered standard of care in screening for genetic testing by ACOG. This test can also determine the gender of the fetus.

Serum Genetic Screening

Serum screening is less sensitive than the NIPT testing. It can include, first trimester screen, quad screen, and sequential screen. They can assess for trisomy 21, neural tube defects, and potentially other genetic anomalies.

MSAFP

The MSAFP test is a blood test that screens for potential abnormalities. This includes open neural tube defects, (spina bifida), defects in the abdominal wall, twins, and other chromosomal abnormalities. This is done between 16-21 weeks gestation.

Carrier Screening


Cystic Fibrosis

Cystic fibrosis screening is a blood test that will check the carrier status of the mother. If a mother is a positive carrier, the father needs testing. This is a once in a lifetime test and typically done with the first pregnancy.

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy screening is a blood test that will check the carrier status of the mother. If a mother is a positive carrier, the father needs testing. This is a once in a lifetime test and typically done with the first pregnancy.

Fragile X

Fragile X syndrome can cause a mild to severe intellectual disability. It is similar to autism. It is not life threatening, but there is no cure. It is an inherited genetic condition in which parents can be tested.