Prenatal Genetic Diagnosis and Screening Services

For some genetic disease, such as cystic fibrosis, spinal muscular atrophy and sickle cell disease, both parents must be carriers in order to have an affected child. Carrier screening is performed on one or both parents to determine if they carry these inherited conditions.

Cell-free DNA screening screens for Down syndrome, trisomy 18 and trisomy 13. This test may also screen for conditions with an extra or a missing X or Y chromosome.

The level II ultrasound (anatomy scan) is typically performed around 20 weeks of pregnancy to screen for birth defects.

In contrast to screening tests that determine a level of risk that problems may occur, diagnostic tests are designed to determine if a problem is present.

Penn Obstetrics offers screening and diagnostic tests during pregnancy to assess a baby's chances of having Down syndrome.

Penn Obstetrics offers sequential screening, a prenatal test that estimates the chance that a baby will be born with Down syndrome, trisomy 18, or an open neural tube defect.

During your pregnancy, one of the tests your Penn obstetrician may perform is called the Multiple Marker Screening Test (MMST).

Penn obstetricians can perform tests to determine the chance of your baby having a neural tube defect, or spina bifida.