5 steps to take if a genetic condition is suspected during pregnancy
January 30, 2026
Most parents go into an ultrasound excited to see their baby. They look forward to learning whether it’s a boy or girl or just watching the wiggling on screen.
But sometimes, the news isn’t what you expect. The doctor may see something concerning. Or you may get a blood test result that shows your baby is at an increased risk for a chromosomal disorder or genetic condition.
Hearing this can make it seem as if your world has been turned upside down. It can feel overwhelming, scary, and confusing – but you are not alone.
Through a unique partnership between UT Southwestern and Children’s Health, our patients have access to a team of specialists, including reproductive genetic counselors, maternal-fetal medicine (MFM) doctors, and the Fetal Evaluation and Treatment Alliance Center (FETAL) team.
These experts are here to help you understand what’s going on and support you with empathy and education throughout your pregnancy and beyond. Our care team will guide you through five important steps to help you make informed decisions about your pregnancy, about caring for your baby, and about future family planning.
1. Meet with a genetic counselor
The goal of genetic counseling during pregnancy is to empower you with knowledge to make informed decisions for your family. Genetic counselors can explain complex information in a clear, compassionate way and help you understand any genetic test results you get as well as your options for testing moving forward.
During your appointment, we will:
- Review genetic test results and ultrasound findings.
- Talk through the medical and family history for you and your partner. This includes histories of past pregnancies as well as information about parents, siblings, and extended relatives.
- Explain what additional screening or diagnostic testing options exist and what each can and can’t tell you.
Meeting with a genetic counselor does not mean that you must do more testing or make any immediate decisions. We are here to provide information, help you navigate concerns, and answer your questions.
You can request an appointment directly with UT Southwestern Medical Center’s reproductive genetics service; no referral is required. Appointments are available in person and virtually, whichever is more convenient and comfortable.
Related: Read "5 myths about pregnancy-related genetic testing and counseling"
Schedule an MFM ultrasound and consultation
If your Ob/Gyn suspects a condition based on your ultrasound or screenings, they may recommend that you follow up with a maternal-fetal medicine doctor. These MFMs focus on caring for patients with high-risk pregnancies.
Using advanced ultrasound technology, the MFM can get a more detailed look at the growth and anatomic development of your baby. This exam can provide reassurance or help clarify previous findings. The goal is to give you the most accurate information possible.
We will discuss what any findings might mean for your pregnancy and the baby’s health, and we can connect you with genetic counselors and pediatric specialists to help you get more information. We will work together with you and your Ob/Gyn to make a plan for monitoring your pregnancy and for delivery to ensure the optimal environment of care for the newborn.
3. Consider additional screening or diagnostic testing
Genetic testing can range from simple, noninvasive screening to more in-depth diagnostic testing procedures. Your genetic counselor and MFM specialist can walk you through each test and help you decide which — if any — are right for you and your family. Some common types of genetic screenings and tests include:
- Cell-free fetal DNA screening (cffDNA): Also known as noninvasive prenatal testing (NIPT), this screening of the mother’s blood can help determine a baby’s risk of being born with certain chromosomal disorders or a small number of conditions due to changes in specific genes. NIPT cannot diagnose a condition. It only tells us whether there is a chance a condition exists. NIPT can be done as early as 10 weeks of pregnancy.
- Chorionic villus sampling (CVS): This test is usually performed between 11 and 13 weeks of pregnancy and can diagnose a genetic condition. CVS involves collecting a tissue sample from the placenta by inserting a thin needle through the abdomen or a small catheter through the cervix. Once the sample is obtained, it is sent to a lab to test the chromosomes or genes.
- Amniocentesis: This test can be done after 16 weeks of pregnancy and is used to diagnose some genetic conditions as well as some infections. With amniocentesis, a thin needle is inserted through the abdomen into the uterus to collect fetal cells from the amniotic fluid around the baby. The cells are then sent to a lab to test the chromosomes or genes.
NIPT poses no risk to the baby. CVS and amniocentesis both carry a very small risk for complications or miscarriage – less than 1%, or between 1 in 500 to 1 in 1,000 cases. We take precautions with every prenatal diagnostic procedure to minimize risk of complications.
For deeper answers, UT Southwestern reproductive genetic counselors can discuss the option of prenatal whole exome or whole genome sequencing with you. This advanced form of genetic testing uses samples taken during CVS or amniocentesis to examine all chromosomes and genes and look for a cause of complex ultrasound findings.
4. Speak with a pediatric specialist
Our FETAL Center at Children’s Health works with reproductive genetic counselors and MFMs to set families up with pediatric specialists with expertise in your baby’s condition. You do not need to have a confirmed diagnosis through CVS or amniocentesis to be seen at FETAL Center at Children’s Health.
Our pediatric specialists can provide expert education on your baby’s condition and how it may affect their newborn period and childhood. These specialists may help explain a stay in the neonatal intensive care unit (NICU) if needed, as well as what treatment may entail immediately after birth and into childhood. For example, ultrasounds may have shown that your baby has a condition that will require surgery after birth. By connecting with a pediatric surgeon and neonatologist prenatally, you can meet members of your care team and feel more prepared about what will happen in the delivery room, NICU, surgery, and post-discharge care.
In the U.S., about 1% of babies are born with a single-gene disorder, 0.5% have a chromosomal disorder, and 2%-3% of babies are born with a physical difference. Examples of just a few of the conditions we see include:
- Heart defects
- Clubfoot or other limb differences
- Spina bifida
- Down syndrome
- Cystic fibrosis
- Disorders of sexual development
- Sickle cell disease
- Abnormalities or blockage of the intestines
- Abnormalities of the brain
- Cleft lip/palate
The FETAL Center team synchronizes your baby’s care from the very start. A dedicated care coordinator will become your personal point of contact. They will accompany you during consultations with doctors and help schedule appointments before and after delivery.
If your baby has a serious or life-limiting condition, our palliative care team will provide emotional support, comfort-focused planning, and continuity of care every step of the way so you and your family can focus on spending precious time with your baby.
5. Make connections for ongoing support
Pregnancy and parenting may be more complicated when a genetic or chromosomal condition is involved, and it can still be joyful and fulfilling. You won’t be alone in your journey – many parents find comfort and community in connecting with other families who have walked a similar path.
Some organizations that support families include:
- Abel Speaks: Supports families expecting a child with a life-limiting condition through mentoring, memory-making, and grief support during pregnancy, postpartum, and beyond.
- Hope Story: Provides encouragement, education, and connection to parents who learn of a new diagnosis of Down syndrome.
- Community bereavement care support: Several North Texas organizations host peer groups and offer resources after pregnancy loss or the death of a child.
Your care team or genetic counselor also can recommend local support networks and online communities specific to your baby’s condition.
Looking ahead
Sometimes, genetic findings raise questions about whether future pregnancies may be affected or whether other family members should get genetic testing. Our genetic counselors are happy to talk with you during or after pregnancy to discuss what your baby’s results could mean for your family’s long-term health and planning.
Learning that your baby may have a genetic condition can be confusing and scary. It can leave you with a lot of questions, and many will arise throughout your pregnancy. Know that through it all, you have a team on your side — we will explain, guide, and talk with you through every decision at every stage of your pregnancy and beyond.
To talk with genetic counselor, make an appointment by calling 214-645-3838 or request an appointment online.
