Prenatal Testing

Prenatal testing can identify if your baby is at risk for certain birth defects or genetic disorders.  Whatever the results, the Center for Human Genetics offers genetic counseling and evaluation services at your disposal.

The most important indications for prenatal study are:

  • Advanced maternal age
  • Previous offspring with any chromosome defect
  • Increased odds for Down syndrome (or other chromosome defect) after maternal serum screening
  • Abnormal non-invasive prenatal testing (NIPT)
  • A parental carrier or one who has a chromosome defect
  • Discovery of a fetal anomaly or intrauterine growth restriction

Please contact the Center for Human Genetics prior to sending any samples.



Knowing the carrier status of yourself and your partner places you in control and allows personal decision-making. If you are both carriers, prenatal diagnosis in early pregnancy is possible. This would allow you to make decisions such as making preparations to have a child with lifelong special health care needs, electing to stop a pregnancy, or avoiding the disorder. Preimplantation embryo diagnosis is also available.


Please refer to our Cystic Fibrosis Carrier Screening Brochure for answers to key questions for those considering CF carrier screening.


Maternal cell contamination (MCC) studies ensures that results from testing prenatal samples, such as amniotic fluid and chorionic villus sample (CVS), are of fetal origin, ensuring accurate prenatal genetic testing, reporting, and decision-making.  The Center for Human Genetics offers analysis at 15 loci to rule out MCC.


Recommendations are to test all women in all pregnancies with two biochemical markers and by ultrasound at 11‐13 weeks.

Rapid Interphase FISH Analysis

Indicated for urgent second and third trimester study when a fetal defect is present or risk is high. Diagnostic focus is on chromosomes 13, 18, 21, X, and Y. Complete routine chromosome analysis is still needed. Results in 24 hours. Analysis can be performed on amniotic fluid, chorionic villus sampling (CVS), and/or peripheral blood (i.e. newborn).

Microdeletion/Microduplication FISH Analysis

Recommended depending on family history or ultrasound findings (i.e. DiGeorge syndrome).


Recommended if neural tube defects (NTD) are suspected in ultrasound findings.