Prenatal testing and genetic counseling

Certain inherited genetic conditions like cystic fibrosis, spinal muscular atrophy, and sickle cell disease occur in children when both parents carry a gene. A blood test from one or both parents can determine whether a gene abnormality exists. We can perform a carrier screening before or during pregnancy.

A cell-free DNA screening checks a pregnant person’s blood for signs of chromosomal disorders in their baby, such as Down syndrome, trisomy 18, and trisomy 13. It can also detect missing or extra X and Y chromosomes. Cell-free DNA tests are 99 percent accurate. If you have a positive result, we may recommend further diagnostic tests to confirm a diagnosis.

We recommend all pregnant people have a level II ultrasound (also called an anatomy scan) around the 20th week of pregnancy. This safe, noninvasive prenatal test measures your baby’s size and checks their anatomy for congenital anomalies. The ultrasound can also help us measure your amniotic fluid and the length of your cervix and determine the location of your placenta. This information tells us how your pregnancy and baby are developing.

Amniocentesis and chorionic villus sampling (CVS) are diagnostic tests for genetic disorders and chromosomal abnormalities. We may recommend a prenatal diagnostic test based on your family history and risk factors. If both you and your partner carry the same genetic disorder, we may recommend testing to see if your baby has the abnormal gene.

A neural tube defect (NTD) happens when the neural tube that helps form your baby’s brain and spine does not close during development. An NTD can cause conditions like spina bifida, an open spine deformity, and anencephaly, where part of the baby’s brain and skull is missing. The screening checks a pregnant person’s blood for proteins linked to NTDs.

An MMS test measures a pregnant person’s blood for signs of Down syndrome, trisomy 18, and neural tube defects. If your test result shows you have an elevated risk, we may recommend ultrasound, additional screenings, or diagnostic tests.

Sequential screening combines results from two blood tests and a first-trimester ultrasound to give us information about your baby’s development. We use the test results to determine your risk level for having a baby with a chromosomal disorder or neural tube defect. If your screening shows a high level of risk, we may recommend further screenings or diagnostic tests.

Our hospitals feature Level III neonatal intensive care units (NICUs) with neonatology experts specializing in treating newborns with complex medical conditions. If your baby needs surgical intervention, we can quickly transport them to Children’s Hospital of Philadelphia (CHOP). You may receive care from Penn Medicine and CHOP providers throughout your pregnancy, as appropriate.

Caring for a child with special medical concerns can be stressful for you and your family. You have access to experienced behavioral health specialists to help you cope. They offer a wide range of tools, techniques, and treatments for your mental and emotional health.

In rare cases, a baby may be diagnosed with a condition that won’t allow them to survive outside the womb. If your baby receives such a diagnosis, we’re here for you. Our pregnancy loss and comprehensive family planning service provides caring support and guidance to help you decide your next steps. After a pregnancy loss, we can help you explore family planning options or fertility care.