| Ultrasound/Genetics Unit
| Genetic Testing
Maternal-fetal medicine specialists are trained to provide more advanced attention to the expectant mother to address maternal or fetal problems. At Barnes-Jewish Hospital in St. Louis, we orchestrate care from the diagnosis to testing and monitoring to identifying the ideal delivery time and delivering the baby. Studies have shown this advanced care provides better outcomes for mothers and babies.
We provide a level of care beyond what a general obstetrician can provide with significant expertise, experience and focus on diagnosis and management of maternal and fetal care. We care for the most challenging patients, the most complex of the complex. We have the facilities and staff to care for every patient. Treatment is supported by science and evidence-based medicine and we rely on innovative, pioneering treatments to promote the best outcomes.
Many patients considered high-risk have several other medical conditions requiring care. We can provide multiple facets of care in one centralized location. Barnes-Jewish Hospital has access to all medical specialties to oversee the care of you and your baby.
Because we're dedicated to our patients' needs, we take extended time with each patient so care is thorough, customized and personal. We want to make your pregnancy as low-stress as possible and take the extra time to help you understand your situation, answer your questions and develop a partnership with you. We want you to have all the information available to make informed decisions about your care. Our physicians have a commitment and a passion for helping mothers and babies.
WHO IS CONSIDERED HIGH RISK?
Some of the pregnancies considered high risk, which are cared for by the maternal-fetal medical specialists, include:
- Women experiencing pre-term labor or those at high risk for pre-term labor (such as women with previous preterm delivery or multiple pregnancies).
- Women with cervical weakening (called cervical incompetence, where a cervix opens prematurely under the pressure of the growing uterus and fetus and, may need a cervical stitch, also known as a cerclage).
- Women with a history of second- and third-trimester pregnancy loss or stillbirth.
- Women with pre-existing medical conditions, including: heart disease, diabetes and other hormonal diseases, hypertension, renal (kidney) disease, infectious diseases, auto immune disorders (such as lupus), organ transplants, clotting disorders and Rh-factor blood disease.
- Women with uterine or placental abnormalities, such as placental previa.
- Women with fetal anomalies and/or genetic disorders.
- Women with abnormalities of fetal growth.
- Women with pregnancy after age 40.
Call 314-TOP-DOCS (314-867-3627) or toll-free at 866-867-3627 for a referral to a maternal-fetal medicine specialist.
Special testing through maternal-fetal medicine can show problems with the baby early in the pregnancy. Sometimes patients need specialized procedures not available anywhere else in the St. Louis area except Barnes-Jewish Hospital. Specialized testing requires extensive training, expertise and experience.
Ultrasound offers prenatal diagnostics and testing for both routine, low-risk pregnancies and high-risk pregnancies. Ultrasound also may be used to date a pregnancy. Patients benefit from ultrasound at Barnes-Jewish Hospital because of our high-quality imaging and our significant expertise and experience. If a patient has risk factors, we can provide the necessary testing and genetic counseling.
Physicians may refer patients for ultrasound if they suspect a malformation or if there are maternal risk factors. The newest generation of ultrasound technology assists perinatal specialists to assess genetic disorders before birth. Prenatal genetic diagnosis is generally offered to the following groups of patients:
- Women who will be 35 or older at delivery.
- Couples who previously have had a child with a chromosomal abnormality.
- Couples who are known carriers of a chromosome translocation.
- Women who are carriers for sex-linked disease such as hemophilia or muscular dystrophy.
- Couples who are known carriers or who are members of at-risk populations to be carriers of certain hereditary disorders (such as Sickle Cell Anemia in the African-American community or Tay-Sachs disease in the Jewish population).
- Couples with a family history of neural tube defects such as spina bifida, anencephaly or encephalocele (birth defects involving the brain or spinal cord).
- Couples who previously had or are at risk to have children with certain structural birth defects that may be detected by diagnostic ultrasound.
- Women who have had an abnormal maternal serum screen (alpha-fetoprotein +/- additional biochemical markers).
- Women with prenatal exposure to certain medications, drugs or certain viruses.
If problems are identified through testing, we coordinate care for the patient and work closely with pediatric sub-specialists and neonatologists at St. Louis Children's Hospital. Patients are counseled prenatally and can tour the neonatal intensive care unit (NICU) so they know what to expect. Our goal is to keep the patient as informed as possible.
Barnes-Jewish Hospital obstetricians and sonographers are some of the most experienced teams in the region. Each year, we perform more than 15,000 obstetrical and gynecological ultrasounds. Our sonographers and obstetricians focus exclusively on obstetrical ultrasound. The quality from a prenatal ultrasound depends upon the expertise of the health-care professional. Expertise and experience matter the most to be able to detect the majority of malformations.
Our obstetricians also perform more than 1,000 genetic amniocentesis and first trimester chorionic villus (CVS) sampling procedures each year.
As a result of the human genome sequencing project, scientists now have the blueprint of each of us. Because of this, combined with advances in technology and other scientific discoveries, there has been an explosion in identifying the genetic basis of many disorders. Genetic testing and ultrasound give us the ability to diagnose things we couldn't detect 20 years ago. It has refined our ability to predict a fetus at risk and take appropriate actions earlier.
If you have a known risk factor for a genetic disorder, such as cystic fibrosis, our genetic specialists can perform genetic testing. To counsel patients about genetic testing, our staff includes two genetic counselors. A counselor will discuss screening and diagnostic options of genetic testing. Genetic testing generally requires a simple, non-invasive blood test and is often the first step before considering more invasive testing such as amniocentesis.