Fetal Health: Prenatal Treatment and Genetic Testing
Treating Genetic Conditions Before Birth
At Children’s Mercy in Kansas City, our teams are advancing care for certain genetic conditions by beginning treatment before a baby is born. This approach, known as in utero treatment, aims to support a child’s health as early as possible.
This year, the Elizabeth J. Ferrell Fetal Health Center cared for a baby diagnosed before birth with spinal muscular atrophy (SMA) Type 1, a genetic condition that causes muscle weakness beginning in infancy. Without treatment, children with SMA Type 1 may have difficulty sitting, walking or breathing on their own.
During pregnancy, the mother was treated with Risdiplam, a medication that helps improve muscle function. By starting treatment before birth, the care team was able to influence the baby’s early development. At delivery, the baby showed strong movement and a vigorous cry.
The team is also currently caring for a pregnancy affected by cystic fibrosis. During pregnancy, the mother is being treated with Trikafta, a medication that helps the body move salt and water more effectively. Early treatment may help reduce thick mucus buildup and support lung and digestive health from the start of life.
These early interventions represent continued progress in fetal care and reflect Children’s Mercy’s commitment to advancing treatment options and improving outcomes for families.
Prenatal Genetics Evaluation and Testing at the Fetal Health Center
Families may benefit from a prenatal genetics evaluation during pregnancy or while planning for pregnancy. Reasons why include a personal or family history of a genetic condition, having a child previously affected by a genetic disorder, higher‑risk results on prenatal screening, learning that both parents are carriers for the same condition or unexpected findings on ultrasound.
At Children’s Mercy’s Fetal Health Center, Lylach Haizler‑Cohen, MD, provides care for patients with complex prenatal needs. She is specially trained in both maternal‑fetal medicine and clinical genetics, allowing her to care for both mother and baby while helping families understand genetic information and testing options.
Services include detailed ultrasound evaluations, genetic risk assessment and counseling and diagnostic testing. Available procedures include chorionic villus sampling (CVS) and amniocentesis.
CVS is typically performed between 10 and 13 weeks of pregnancy and involves collecting a small sample of placental tissue. Because it is done earlier in pregnancy, CVS can provide genetic information sooner. Amniocentesis is usually performed after 15 weeks and involves collecting a small amount of amniotic fluid using a thin needle guided by ultrasound. Both tests provide important information to help families understand their baby’s health and make informed decisions.
For Professionals
Few maternal‑fetal medicine practices currently offer CVS. This early diagnostic test can be valuable in several situations, including higher‑risk noninvasive prenatal testing results, a prior child affected by a genetic condition or congenital anomalies identified on early ultrasound.
If you have a patient who may benefit from CVS, the best way to refer is to fax a referral to the Fetal Health Center at (816)302-9605. For urgent consults, providers may also call (816)855-1800 to confirm the fax was received.
Children’s Mercy performs both transabdominal and transcervical CVS. The evaluation includes genetic counseling by a certified genetic counselor, a detailed ultrasound assessment, the diagnostic procedure and follow-up ultrasounds as needed.