Genetic Testing

About Women OB-Gyn offers comprehensive prenatal genetic testing options that can provide important information about your baby’s health. Based on your age, medical history, and other factors, your clinician will assess what risks could affect your pregnancy and discuss genetic testing options that may provide you with important information.

For some genetic tests, the procedure itself may involve risks, such as the potential for false positives or a slightly increased risk of miscarriage. Your clinician can help you evaluate the risks and benefits of genetic testing.

The table below provides information about genetic testing services available at About Women OB-Gyn.

TEST

PURPOSE

TIMING

DESCRIPTION

Nuchal Translucency

Estimates the risk of Down’s syndrome and several other chromosomal disorders.

11 weeks to 13 weeks, 6 days

Uses ultrasound to measure the thickness of a roll at the neck of a fetus, with a 90 percent detection rate and 5 percent false-positive rate.

Chorionic Villus Sampling

Detects chromosomal abnormalities that cause Down’s syndrome or other disorders.

11–13 weeks

Uses a biopsy needle, inserted through the cervix or abdominal wall, to take a small tissue sample from the placenta for testing. There is a 1–2 percent risk of miscarriage from the procedure.

Quad Screen

Tests the mother’s blood for substances that, at certain levels, may indicate risk of Down’s syndrome, spina bifida, or other chromosomal disorders, with 85 percent accuracy (95 percent with a previous nuchal translucency test) and a 5 percent false positive rate.

16–20 weeks

Tests a blood sample drawn from a vein in the mother’s arm.

Genetic Ultrasound (Level II)

An invasive test of amniotic fluid for chemicals that may indicate risk of disorders such as Down’s syndrome or spina bifida.

16–22 weeks

Uses a needle, inserted through the abdominal wall and into the uterus, to extract a sample of amniotic fluid. The risk of miscarriage is 1 in 400–700.

Blood Tests—Ashkenazi Jewish Panel, Cystic Fibrosis, Hemoglobinopathy Screen

Blood tests of one or both parents for indications of certain congenital disorders, including some associated with ethnic background or family medical history.

Variable (pre-pregnancy or prenatal)

Tests a blood sample drawn from a vein in the arm of one or both parents.

Obstetrics