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Prenatal Genetics at the Harvey Institute for Human Genetics

Prenatal Genetics

6701 N. Charles St.
Main Hospital, Suite 2310
Towson , MD 21204

Lily Parking Garage

(443) 849-2536

Monday 8:00am - 4:15pm
Tuesday 8:00am - 4:15pm
Wednesday 8:00am - 4:15pm
Thursday 8:00am - 4:15pm
Friday 8:00am - 4:15pm

Screening and diagnosis for physical and genetic disorders that could affect a pregnancy

At GBMC, we understand that every pregnancy is unique, and we are dedicated to supporting you with compassion, expertise, and personalized care. Our Prenatal Diagnostic Center at The Harvey Institute for Human Genetics provides comprehensive screening and diagnostic services for families who want the best information and resources to help ensure a healthy pregnancy.

Why Prenatal Screening Matters

Most babies are born healthy and without major birth defects or genetic conditions. However, when an abnormality does occur, detecting it before birth can help families prepare and improve the baby’s outcome. Various blood tests, ultrasounds, and diagnostic procedures (such as amniocentesis and chorionic villus sampling, or CVS) can identify or rule out certain conditions, empowering you to make informed decisions.

Who May Benefit from Screening and Diagnosis?

Your OB or family doctor may recommend screening and diagnostic testing for any of the following reasons:

  • Age (35 or older): Increased risk for certain birth defects and chromosome conditions.

  • Genetic Factors: If either parent has a diagnosed genetic condition or is a known carrier.

  • Family History: Previous child or family member with birth defects or genetic conditions (e.g., Down syndrome, cleft lip, spina bifida).

  • Positive Prenatal Screening: If a screening test (e.g., cell-free DNA) indicates a higher risk.

  • Unusual Chromosome Arrangements (Translocation): Can raise the likelihood of birth defects or miscarriage.

  • Medication Use: Certain medications in the first trimester may affect the baby’s development.

  • Maternal Medical Conditions: Women with insulin-dependent diabetes, lupus, other autoimmune disorders, or congenital heart defects may benefit from additional screening and diagnosis.

Our Prenatal Services

1. Prenatal Genetic Counseling

Our genetic counselors help you understand potential genetic risks and birth defects, guiding you through available screening and diagnostic options. Counselors also explain test results so you can make confident decisions about your care.

2. Amniocentesis

Generally performed between 16–18 weeks, amniocentesis uses ultrasound guidance and a thin needle to collect a small amount of amniotic fluid. This fluid is then analyzed for chromosome conditions like Down syndrome, trisomy 18, or trisomy 13. We also measure alpha-fetoprotein (AFP) levels to screen for spina bifida. Amniocentesis carries a small risk of miscarriage; our genetic counselors will review the benefits, limitations, and risks with you.

3. Chorionic Villus Sampling (CVS)

Performed between 10–12 weeks, CVS detects chromosomal or specific genetic conditions early in pregnancy. Tissue is obtained from the placenta (transabdominally or transcervically) to analyze fetal chromosomes. Like amniocentesis, CVS carries a small risk of miscarriage, and our counselors will carefully discuss the benefits, limitations, and risks.

4. Ultrasound

Ultrasound exams may be offered at various stages of pregnancy, with a routine scan recommended around 18–20 weeks. This helps evaluate the baby’s anatomy and detect many (though not all) birth defects. Ultrasound findings can also point to potential chromosome abnormalities like Down syndrome.

5. Prenatal Cell-Free DNA Screening (Non-Invasive Prenatal Screening, NIPS)

This blood test, performed after 10 weeks, analyzes fetal DNA circulating in the mother’s bloodstream. It can detect approximately 99% of cases of Down syndrome and a high percentage of trisomy 18 and trisomy 13. Additional screening for select sex chromosome conditions and certain microdeletion syndromes is also available. Genetic counselors can arrange these tests and help interpret the results.

6. Carrier Screening

Recommended for anyone pregnant or planning to become pregnant, carrier screening checks for inherited conditions such as cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. Screening for other conditions—many supported by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG)—is also available. Our counselors will explain these options and the meaning of your results.

 
Harvey Institute Offers Non-invasive Prenatal Testing

Harvey Institute Offers Non-invasive Prenatal Testing

Through the use of detailed fetal ultrasound and innovative blood tests, the Center is equipped to help educate pregnant women about genetic conditions, coordinate prenatal screenings, provide insights into test results and offer resources to help facilitate the best possible health outcome.

Read More 

Frequently Asked Questions

What is genetic counseling? 
Genetic counseling is an educational process during which the known or potential risks of the pregnancy, capabilities and limitations of genetic screenings, and other testing options are discussed. Genetic counseling involves constructing detailed family, medical, and pregnancy histories to assess possible risk factors. 

What are Down syndrome, trisomy 18, and trisomy 13? 

Down syndrome (also known as trisomy 21), trisomy 18, and trisomy 13 are chromosomal abnormalities involving an extra copy of chromosome #21, chromosome #18, and chromosome #13, respectively. These chromosome abnormalities occur after a chance mistake in cell division. Although such abnormalities can occur in any pregnancy, they happen more often with increasing maternal age. Down syndrome causes characteristic facial appearance, intellectual disability, and a greater tendency for other birth defects and health-related issues. Trisomy 18 and trisomy 13 are more severe abnormalities, usually resulting in multiple birth defects and neonatal death.

What are chromosomes? 
Chromosomes are the inherited structures in the cells of the body. There should be 46 chromosomes in each cell, arranged into 23 pairs. Chromosome abnormalities involving a missing or extra chromosome are not usually inherited and are not caused by an exposure during pregnancy. Instead, they are caused by random events in cell division at the time of conception and can occur in anyone's pregnancy. 

How is non-invasive prenatal screening (NIPS) performed? 

Genetic counseling and ordering of screening studies can be coordinated through the Prenatal Diagnostic Center of The Harvey Institute. Prenatal cell-free DNA screening uses a blood sample to analyze pregnancy derived DNA in maternal circulation. This screening can assess risk for chromosomal abnormalities, including trisomy 21, trisomy 18, trisomy 13, sex chromosome abnormalities, and select microdeletion syndromes.

How accurate is non-invasive prenatal screening? 
Prenatal cell-free DNA screening will identify about 99% of pregnancies with Down syndrome as well as most pregnancies with trisomy 18 or 13. There is a small risk of a false positive or false negative with this test, as well as a small non-reportable rate.

What do positive and negative results mean? 
A positive test result indicates an increased risk for a specific chromosome abnormality. A positive test result is not diagnostic, but instead indicates that an increased risk for a problem exists and that additional testing should be considered. Similarly, a negative result does not rule out these abnormalities, but it decreases the specific risks for chromosome abnormalities in pregnancy.

What is assessed during first trimester ultrasound? 
The staff is certified to perform the nuchal translucency and nasal bone assessment at GBMC, which can modify risk for chromosomal abnormalities and provide early detection of some birth defects. Prenatal cell-free DNA screening is often performed in conjunction with the ultrasound exam and genetic counseling.

Is there a need for additional testing? 
If a positive test result or significant ultrasound finding is obtained, a genetic counselor will explain the results and review options for further testing, which may include CVS or amniocentesis and high-resolution ultrasounds. Maternal serum AFP screening for neural tube defects is recommended at 16 weeks. A detailed ultrasound to screen for neural tube defects and other birth defects is recommended at 18-20 weeks of pregnancy.

What is diagnostic testing? 
Prenatal diagnosis through CVS or amniocentesis is available to detect chromosome abnormalities or test for other specific genetic conditions when appropriate. CVS is typically performed between 10.5-13 weeks gestation, and amniocentesis is typically performed between 16-18 weeks gestation but can be performed later. CVS is used to collect a sample of chorionic villi, which are small pieces of placental tissue. An amniocentesis uses a sample of amniotic fluid which contains cells that have been shed by the fetus. Because these procedures are invasive, there can be small risks for complications such as miscarriage. However, they give the benefit of being able to provide definitive, diagnostic information.

Common Terms in Prenatal Screening

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