St. Louis Fetal Care Institute Implements New Approach To Trisomy 13 and 18 Syndrome Diagnoses
(PRWEB) January 14, 2015 -- Advances in genetic testing are leading to an increase in prenatal diagnoses of conditions such as trisomy 13 and trisomy 18, which are associated with severe medical issues after delivery. The increase in referrals of patients whose fetuses have these conditions has resulted in the team at the SSM St. Louis Fetal Care Institute taking a new approach to care for these families.
Working with specialists from SSM St. Mary's Medical Center, SSM Cardinal Glennon Children's Medical Center and the Saint Louis University of School of Medicine, the team is empowering families with the knowledge they need to make the best decisions for themselves and their babies.
“Oftentimes when parents receive a diagnosis of trisomy 13 or 18, they are told their baby will pass away before, or soon after, delivery and not given much additional information about long term survivors or options for care after birth. Parents have the right to know all of the information that will help them make educated decisions and prepare for the delivery and care of their baby," says Stephen Braddock, MD, the director of the Division of Medical Genetics at Saint Louis University School of Medicine. “As a comprehensive team of specialists we provide that knowledge, answer questions and discuss options, all while offering compassionate care and support for the family."
The team of specialists includes representatives from maternal-fetal medicine, genetics, social work, Footprints, and neonatology. In some cases, families also meet with other pediatric specialists.
"We want to make sure to provide realistic expectations, but with new advances in fetal diagnostics we can provide more information and options to families than ever before," says Dr. Emanuel (Mike) Vlastos, the director of the St. Louis Fetal Care Institute. "We also have the resources to help families prepare for the delivery of their babies and the journey after."
Many babies with trisomy 13 or trisomy 18 are miscarried or stillborn. Of those who are born alive, approximately 10% are expected to survive the first year of life because of their multiple life-threatening medical issues.
Each baby with trisomy 13 or trisomy 18 who survives delivery is evaluated on a case-by-case basis by the team of SSM Cardinal Glennon neonatologists, geneticists, and other pediatric experts to assess the baby's well being. The family's desires for their baby's care are discussed, and support is provided regarding medical decisions for the baby.
Trisomy 13 and 18 can be identified through screening tests such as non-invasive prenatal testing (NIPT) and ultrasound examinations. Diagnosis can be confirmed prenatally with better than 99% accuracy through chorionic villus sampling (CVS) or amniocentesis. After delivery, the diagnosis can be confirmed through blood testing.
Trisomy 13 is a genetic syndrome found in one out of every 10,000 babies. It is caused when a person has three copies of chromosome #13 instead of the usual two. Trisomy 13 can cause a number of medical issues, which may include: heart defects, brain or spinal cord abnormalities, cleft lip and/or cleft palate, extra fingers and toes, vision and hearing problems, severe intellectual disabilities, seizures and/or hypotonia (weak muscles). All babies that survive with trisomy 13 have significant intellectual disability.
Trisomy 18 is a genetic syndrome found in one out of every 5,000 babies. It is caused when a person has three copies of chromosome #18 instead of the usual two. Trisomy 18 can cause a number of medical issues, which may include: heart defects, digestive tract abnormalities, cleft lip, joint contractures, vision and hearing problems, slow pre- and postnatal growth, seizures, and hypotonia (weak muscles). All babies that survive with trisomy 18 have significant intellectual disability.
“The trisomy journey can be a very difficult one for our families. Our hope is that this new approach to care can provide knowledge, support and comfort to those coping with a devastating prenatal diagnosis,” says Vlastos.
About The St. Louis Fetal Care Institute
The St. Louis Fetal Care Institute is a partnership between SSM Cardinal Glennon Children’s Medical Center, SSM St. Mary’s Health Center and Saint Louis University School of Medicine. Bringing together renowned maternal-fetal medicine (MFM) specialists, pediatric and fetal surgeons, specialized nurses, cutting-edge technology, and a family-oriented approach, The Institute offers state-of-the-art diagnostic methods and treatment options for families whose unborn babies are facing medical challenges. It is one of the leading comprehensive fetal care programs in the country offering a variety of fetal interventions and treatments, including open and minimally invasive fetal surgery for babies in the womb.
###
Jamie Sherman, SSM Health Care, http://www.stlfetalcare.com, +1 314-989-2927, [email protected]
Share this article