Fetal Anomaly Diagnosis and Treatment Services

During your pregnancy, you may choose to have prenatal screening tests. Prenatal tests can diagnose certain birth anomalies and genetic abnormalities. In some cases, doctors may even be able to treat your baby before it’s born. Knowing about potential problems ahead of time also lets you prepare for any special medical care your baby may need later. 

Here’s what you need to know about our prenatal screening, diagnostics, and treatment services.

What Are Fetal Diagnostics?

Fetal diagnostics are tests that a baby gets before birth, while it's still in the uterus. They look at cells from the amniotic fluid, placenta, or fetal blood.

These tests can tell doctors whether your baby will be born with a birth anomaly or genetic condition, such as Down syndrome.

Doctors often suggest fetal diagnostic tests after a prenatal screening test shows the chance of a problem is likely.

What are prenatal screening tests?

Prenatal screening tests reveal the risk of having a baby with certain problems. They don't diagnose a disease or condition and are generally less invasive than fetal diagnostic tests. 

In some prenatal screening tests, doctors use blood samples from a pregnant person to screen for genetic disorders and birth anomalies. They may also use ultrasound or other screening techniques. If your screening test shows your baby is at risk for a problem, your doctor may recommend following up with fetal diagnostic tests. 

What Fetal Anomalies Do We Treat?

In addition to screening for and diagnosing prenatal problems, doctors at UPMC have the capability to treat some conditions in utero, meaning while the fetus is still in the womb.

Newly developed surgical techniques allow small needles and cameras to enter the uterus to reach the fetus. Some problems can be addressed before birth so babies are born healthier and need fewer medical interventions later. 

Some of the conditions our experts manage in utero include:

• Amniotic bands.
• Broncopulmonary sequestration.
• Critical aortic stenosis.
• Critical pulmonic stenosis.
• Congenital pulmonary airway malformation.
• Discordant twin anomalies.
• Fetal anemia.
• Hydrothorax.
• Lower urinary tract obstruction.
• Multifetal pregnancy.
• Placental chorangioma.
• Sacrococcygeal teratoma.
• Twin anemia-polycythemia sequence.
• Twin reversed arterial perfusion sequence.
• Twin-twin transfusion syndrome.

Once our doctors diagnose a problem, they meet with a multidisciplinary team of pediatric specialists to develop a treatment plan.

Your care team may consist of highly trained experts in:

• Bioethics.
• Fetal MRI.
• Genetic counseling.
• High-resolution ultrasound.
• Maternal-fetal medicine.
• Neonatology.
• Obstetrics.
• Pastoral care.
• Pediatric cardiology.
• Pediatric neurosurgery.
• Pediatric surgery.
• Pediatric urology.
• Radiology.

What Fetal Diagnostic and Treatment Services Do You Offer?

We offer a range of cutting-edge diagnostic and treatment services.

Diagnostic services

• Amniocentesis.
• Chorionic villus sampling.
• Consultation with the Center for Medical Genetics.
• Cordocentesis.
• Fetal echocardiography.
• Fetal MRI.
• Fetoscopy.
• High-resolution ultrasound.
• Non-invasive prenatal screening.
• Thoracocentesis.
• Vesicocentesis.

Therapeutic services

• Amniocentesis/Amnioinfusion.
• Chorionic villus sampling.
• Cordocentesis.
• Diagnostic fetoscopy.
• Ex-utero intrapartum treatment (EXIT).
• Fetal cardiac interventions.
• Fetoscopic laser photocoagulation.
• Fetoscopic amniotic band resection.
• Interstitial laser photocoagulation.
• Intrauterine transfusion of blood products.
• Microcoil embolization of fetal tumors.
• Multifetal pregnancy reduction.
• Open fetal surgery (myelomeningocele repair, tumor resection).
• Selective reduction.
• Thoracentesis/vesicocentesis.
• Thoraco-amniotic shunt placement.
• Umbilical cord occlusion by radiofrequency ablation, bipolar cauterization.
• Vesico-amniotic shunt placement.

When Should I Have Prenatal Testing?

Your doctor may recommend prenatal screening procedures and tests at different times throughout your pregnancy.

The choice of whether to have any prenatal tests is up to you. Doctors can treat some birth anomalies in utero. For conditions they can’t treat, such as Down syndrome, parents may feel more prepared if they know about the condition before birth. 

Here's a general timeline for some of the most common types of prenatal testing.

Prepregnancy

If you use in vitro fertilization (IVF) to get pregnant, doctors may test the embryo for problems before it's transferred to the uterus.

First trimester

• Blood tests — After confirmation of pregnancy to test for blood type, Rh factor, and maternal health status. Testing to screen for chromosomal abnormalities is possible after 10 weeks.
• Chorionic villus sampling — Doctors take a sample of tissue from the placenta between 10 and 13 weeks of pregnancy to test for chromosomal abnormalities.
• Ultrasound — To confirm the pregnancy and estimate a due date.

Second trimester

• Amniocentesis — From 16 weeks of pregnancy until you give birth, to test for genetic problems and infections.
• Blood tests — Between 15 and 22 weeks of pregnancy, to screen for Down syndrome, Edwards syndrome, and neural tube anomalies.
• Maternal serum alpha-fetoprotein (MSAFP) screen — Between 15 and 22 weeks of pregnancy, to measure your blood for alpha-fetoprotein made by the fetus and placenta. High levels may indicate spina bifida.
• Ultrasound — Between 18 and 22 weeks, to check for physical anomalies of the brain, spine, face, belly, heart, and limbs. 

What Are the Types of Prenatal Diagnostic Procedures?

There are two main types of prenatal diagnostic procedures. Prenatal screening looks for risk factors, while fetal diagnostic tests can often pinpoint specific conditions.

Prenatal screening tests

Prenatal screening tests indicate the risk — not the certainty — that your baby will have an inherited condition or birth anomaly. Some tests may come back with a false positive or false negative. It’s important to discuss all test results with your doctor. 

Prenatal screening tests include:

• Carrier screening — To find out whether you carry a gene for an inherited disorder. Doctors use a blood sample or tissue sample from inside your cheek. You may opt to have this test even before becoming pregnant.
• Maternal serum screening — To screen for Down syndrome, Patau syndrome, and Edwards syndrome. 
• Noninvasive prenatal testing (NIPT) — To detect potential abnormalities without harming the fetus. This test analyzes small fragments of fetal DNA cells shed from the placenta, which circulate in your bloodstream during pregnancy.
• Nuchal translucency scan — Measures the amount of fluid behind the baby’s neck. If there's more fluid, your baby has a higher chance of having Down syndrome or another chromosomal problem. They may also have a greater risk of congenital problems with the heart, abdominal wall, and skeleton.
• Preimplantation genetic diagnosis — With IVF, doctors can discover a genetic or chromosomal problem before the embryo is implanted in the uterus. Before they transfer an embryo to the uterus, they test for certain genetic problems. 

Prenatal diagnostic tests

Fetal diagnostic tests can pinpoint a problem with greater certainty than screening tests. However, they have a greater chance of side effects, including miscarriage.  

The most common prenatal diagnostic tests are:

• Amniocentesis — Doctors use a very thin needle to take a small amount of amniotic fluid from the amniotic sac. They use ultrasound to guide the procedure. Side effects include leaking of amniotic fluid and bleeding, along with a very small chance of pregnancy loss.
• Chorionic villus sampling (CVS) — Doctors take a tissue sample from the placenta to analyze. They can perform CVS earlier than amniocentesis. The risk of miscarriage is similar to amniocentesis.

What Are the Most Common Fetal Surgeries?

Two of the most common surgeries we perform are for fetal anemia and twin-to-twin transfusion syndrome.

Why Choose UPMC Magee-Womens for Fetal Diagnostics and Care?

UPMC Magee-Womens Hospital has a long history of excellence in fetal diagnosis and treatment. We are one of the most advanced fetal diagnostic centers in the U.S. Our maternal-fetal care teams have training in the latest cutting-edge techniques. 

The United States Department of Health and Human Services designated UPMC Magee-Womens Hospital as a National Center of Excellence in Women’s Health. The hospital’s Level III neonatal intensive care unit is the largest in Pa. We treat more than 1,500 seriously or critically ill newborns every year.

By UPMC Editorial Staff. Last reviewed on 2024-09-05 by Sami P. Makaroun, MD and Stephen P. Emery, MD.