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Overview

With advancements in noninvasive imaging and surgical techniques, it is now possible to treat many problems in a fetus before birth.

For more than four decades, Yale Medicine has been at the forefront of advances in fetal care, including the use of Chorionic villus sampling (CVS), a technique for detecting abnormalities; blood sampling and transfusion; anemia assessment; and surgery.

Our Yale Medicine Fetal Care Center, which is the only of its kind in the state and one of few in the Northeast, offers comprehensive services to women whose unborn babies have anomalies and conditions that can be treated in utero. After birth, we collaborate closely with pediatric specialists and neonatologists who are skilled at treating ill or premature infants in Yale New Haven Children's Hospital's Neonatal Intensive Care Unit. 

"What sets us apart is our multidisciplinary nature with pediatric subspecialists ready to help," says Mert Ozan Bahtiyar, MD, director of the Fetal Care Center. "We have a harmonious and seamless transition from prenatal to postnatal care." 

What is fetal therapy?

Fetal therapy, also known as fetal treatment, is a branch of fetal medicine that involves the diagnosis and treatment of fetal abnormalities.

It includes medical interventions—such as medications given to the mother to cross the placenta and reach the fetus—and surgical interventions to help an unborn baby that might die or be disabled if no action was taken.

Advanced fetal therapy, which includes treatments offered at our Fetal Care Center, is a relatively new field of medicine, dating back to the 1980s. Because of the complexities and risks of surgical and medical interventions for mother and child, such procedures are only handled at specialized centers such as ours, which is staffed by skilled and experienced physicians, surgeons and nurses.

Issues that require fetal therapy are usually discovered during routine prenatal exams. Your primary ob-gyn can identify any concerns and refer you to Fetal Care Center for further exams and consultation.

What conditions does the Fetal Care Center treat?

We see all sorts of issues at the Fetal Care Center. Heart, abdominal, urologic and neurological conditions are the most common ones we treat. 

We also have expertise in disorders that affect twins, including twin-to-twin-transfusion syndrome. With this rare condition, which affects 10 to 15 percent of identical twins who share the same placenta, the placenta has abnormal blood vessels. As a result, one fetus receives more of the necessary nutrients needed to grow, and the other does not receive enough. 

Other twin disorders we treat are:

  • Selective fetal growth restriction, in which twins share unequal portions of the placenta that provides fluid and nutrients to them
  • Twin anemia polycythemia sequence (TAPS), unequal blood counts in identical twins
  • Twin reversed arterial perfusion sequence (TRAP), a rare condition in which one twin without a functioning heart draws blood from the other twin.

Additional conditions we treat at the Fetal Care Center include:

  • Abdominal cysts
  • Airway lesions
  • Abnormalities of sexual differentiation
  • Gastrointestinal obstructions and malformations
  • Bronchopulmonary sequestration , in which a piece of lung tissue develops separately from the main breathing system
  • Brain abnormalities
  • Clubbed feet
  • Cleft lip and palate
  • Congenital cystic adenomatoid malformation, in which airways are malformed
  • Congenital diaphragmatic hernia, in which there is an abnormal opening in the diaphragm
  • Congenital heart defects
  • Conjoined twins
  • Disorder of sexual development
  • Esophageal atresia, in which esophagus is not connected to the stomach
  • Fetal anemia, in which the fetus does not have enough red blood cells
  • Fetal arrhythmias, in which the fetus’ heart rate is not normal
  • Fetal obstructive uropathy (posterior urethral valve), in which excess flaps of tissue develop in the urethra
  • Gastroschisis, a defect in the abdominal wall that allows internal organs to protrude Head and neck lesion, which can prevent the newborn from breathing
  • Hydrocephalus, an excessive pooling of fluid in the brain
  • Monochorionic twin pregnancies, in which identical twin pregnancy with single placenta complicated with twin-to-twin transfusion syndrome, selective growth restrictions, or twin anemia polycythemia sequence. 
  • Omphalocele, an abdominal wall defect in which the intestines or other organs stick outside the body through the belly button
  • Polydactyly, or extra fingers or toes
  • Renal, kidney or bladder problems
  • Sacrococcygeal teratomas, a tumor at the base of the tailbone, or coccyx 
  • Spina bifida, incomplete development of the brain, spinal cord or the tissue that encloses the spinal cord
  • Trachea-esophageal fistula, an abnormal connection between the trachea and esophagus. 

How are fetal abnormalities diagnosed?

We offer a wide range of fetal diagnostic and imaging services, including magnetic resonance imaging (MRI) and these tests:

Cell-free fetal DNA:  A new form of testing that can assess the risk of a fetus having a chromosome disorder, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13).

Amniocentesis: An ultrasound-guided fine needle is used to remove a small amount of amniotic fluid from the sac surrounding the fetus for testing. 

Chorionic villus sampling (CVS): An ultrasound-guided needle takes a sample of chorionic villi. Villi are projections that grow from the chorion, a membrane between the fetus and mother. The villi contain information about the genetic makeup of the fetus. 

Two other common diagnostic procedures include: 

  • Fetoscopy: A small incision of 3 to 4 millimeters is made, so that a tiny device tipped with a camera, called an endoscope, may be inserted into an expectant mother's amniotic cavity. This allows physicians to take detailed images of the fetus and to make highly accurate diagnoses.
  • Fetal echocaradiography: This procedure is similar to a standard pregnancy ultrasound. By bouncing sound waves off the fetus and looking at resulting imaging, doctors are able to analyze whether the fetus’ cardiovascular system is working properly.

What treatments does the Fetal Care Center offer?

We handle many complicated in-utero surgical procedures. A few include:  

Fetal Blood transfusion: These are done when the fetus is suffering from severe anemia and could die without this transfusion, which can be administered through the mother's abdomen into the fetus’ umbilical cord or through the mother’s abdomen and uterus into the fetus’ abdomen. 

Fetal shunt placement: A shunt, or hollow tube, is inserted through the mother's abdomen and uterus and into the fetus to drain fluid from the amniotic cavity. Shunts are most often used to treat urinary tract blockages. If the bladder becomes enlarged, the amount of amnionic fluid decreases, which can cause underdeveloped lungs, facial and extremity deformities, and kidney damage. A shut allows the urine to bypass the obstruction and drain into the amniotic cavity and restore normal fluid levels. 

Fetoscopic laser procedure: To treat twin-to-twin transfusion syndrome (TTTS), a small instrument equipped with a laser is small camera (fetoscope) is inserted into the mother's amniotic cavity to locate and burn off abnormal blood vessel connections in the placenta. This can stop the progression of TTTS. 

"In the past, we would reduce the amount of amniotic fluid because too much can cause preterm labor and reducing it decreases pressure and allows for some connections to open up," Dr. Bahtiyar explains. "But now laser achieves better outcomes. If TTTS is left untreated, there is an 80-percent chance that at least one of the twins dies. And if one dies, the other has a 33-percent risk of brain damage." 

I really like my Ob/Gyn. If I consult with the Fetal Care Center, does that mean I have to find a new doctor?

No. Yale Medicine experts make it a priority to coordinate with your primary Ob/Gyn. We offer your doctor the option of co-management with Yale physicians, even in the most extensive, complicated cases.

What makes Yale Medicine's approach to fetal medicine unique?

At the Fetal Care Center, you’ll be able to take advantage of the wisdom of experts at the forefront of their specialties, while still working with your primary ob-gyn. Yale Medicine's unique program and state-of-the-art equipment and techniques have ensured successful births for thousands of babies with special needs.

We take pride in our compassionate, thorough treatment of our patients, from pregnancy through birth. A big piece of that is combining hope with reality, Dr. Bahtiyar says. "We aren't going to change the course of Down syndrome or a hole in the heart, but we are preparing parents for what to expect," he says. "If they know their child will be born with heart problems, it allows for coherent care. The health care system is so vast and people can get lost. We help them navigate it." 

Key to that navigation is Diane Wall, MSN, RN, our fetal care coordinator. Wall meets with patients at time of diagnosis and sees them through all of their care. She, along with the Fetal Care Center social worker, Lori Burns-Galdenzi, LCSW, lead a monthly support group for patients and partners who are expecting a baby with abnormalities or already have a baby with chronic health challenges. 

"The more information people have, the better prepared they will be if their baby is born with health issues," Wall says. "Expecting and having a chronically ill child changes your life. Having the support of the Fetal Care Center team along the way enables patients to get to know their baby’s expert providers and explore care options prior to their baby’s birth, thereby helping to reduce some of the stress that parents experience at the time of delivery and in the early postnatal period.”

In addition, we are continually working to improve all areas of fetal care. Our doctors are currently researching many areas, including applying advanced ultrasound technology to fetal and maternal care, predicting perinatal (just before birth) strokes, and treating perinatal brain injury.