Fetal Syndromes: Diagnosis, Treatment, and Outcomes

By Talitha McGuinness | Published 9/3/2020 0

fetal syndromes prenatal ultrasound

Fetal syndromes are typically detected between 17 and 24 weeks. (Photo source: iStock)

Every year, millions of expectant parents celebrate the imminent arrival of their new family members with baby showers and parties. In fact, nearly 4 million babies were born in the United States in 2018, the most recent year for which the CDC has published data. Unfortunately, in some pregnancies, the joy that expectant parents feel is often muted by the worry about medical complications related to prenatally diagnosed fetal syndromes.

Pregnancy complications

According to the CDC, congenital abnormalities fall within the category of fetal syndromes. Their presence classifies a pregnancy as “high risk”. The other common conditions that make a pregnancy high risk are preeclampsia and gestational diabetes. 

Unfortunately, fetal syndromes are the #1 cause of death in US infants. More than 800,000 pregnancies are affected by one of 4,000 known fetal syndromes each year. The causes are largely unknown.

Overall, 6-8% of all pregnancies with a congenital abnormality in the US are characterized as high risk. This means that there is a serious anomaly that may affect the life of the baby during pregnancy or soon after birth.

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Diagnosing fetal syndromes

Women typically have an ultrasound scheduled around their fifth month into the pregnancy (20 weeks of gestation). This scan serves several purposes, including learning the baby’s gender.

It also helps the doctor detect abnormalities with blood flow, and organ and bone development, to name a few areas of interest. Fetal syndromes are generally detected at 17-24 weeks’ gestation.

The Fetal Health Foundation, a national non-profit, is focused on supporting patient families faced with a fetal syndrome diagnosis. It is the only group known to have built an online repository of fetal syndromes including,

  • diagnostic information
  • possible treatment
  • outcomes
  • an interactive map for locating fetal centers that provide syndrome-specific care.

The most common fetal syndromes

In this article, we discuss some of the most common fetal syndromes, as well as treatment options and possible outcomes.

fetal syndromes congenital diaphragmatic hernia

Part of the large intestine has moved into the chest cavity near the heart and lungs due to a hole in the diaphragm muscle. (Credit: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities)

Congenital diaphragmatic hernia makes up about 8% of all major birth defects. It is caused by either a hole in the diaphragm or the absence of the diaphragm.

Due to the absence of, or a hole in, the diaphragm the organs (this may include the stomach, spleen, intestines, and liver) located in the abdomen move into the chest area.

At some fetal centers, a specialized balloon can be placed in the fetal windpipe (trachea) between 26–29 weeks gestation to allow the lungs to grow.  The balloon is placed using a small telescope called a fetoscope. Typically, the balloon is then removed at 32-34 weeks gestation.

Depending on how severely the developing lungs were compromised due to the hernia, the baby may not be able to breathe on its own due to the underdevelopment to the lungs. Fetal centers can then provide respiratory care after birth.

  • Fetal Hydrops

    fetal syndromes pleural fluid fetal hydrops

    This prenatal ultrasound shows a large collection of fluid around the lungs (black space between the chest wall and the lungs). (Photo source: supplied by the author).

Fetal hydrops is diagnosed during pregnancy when abnormal fluid collections are seen in the fetus. This may occur in different areas of the body, for example

        • around the heart or lungs (pericardial or pleural effusion),
        • in the abdomen (ascites), or
        • in the skin and soft tissues (scalp edema).

The cause can be due to an immune response from the maternal and fetal blood type incompatibility. Or it can be due to a non-immune response resulting from other fetal anomalies/conditions.

Treatment varies, as fetal hydrops is associated with several underlying causes. Between 60-90% of babies diagnosed die before birth.

For some genetic disorders that cause Non-Immune Hydrops Fetalis (NIHF), interventions such as the placement of a plastic tube (shunt) to drain extra fluid around the lungs are available during pregnancy and after birth to improve outcomes. 

fetal syndromes hypoplastic left heart syndrome

The left ventricle pumps blood from the heart to the rest of the body. This is severely compromised in HPLHS. (Graphic supplied by the author)

HLHS is a complex and severe congenital heart defect in which the structures of the left heart (left ventricle) are very small (hypoplastic).  Or, they may not be formed at all.

Left untreated, babies born with this disorder die in the first few weeks of life. A baby born with HLHS will not survive without surgical therapy. A series of operations is performed that allows the patient to survive with this defect. This is called surgical palliation.

LUTO is a rare condition that is caused by a blockage of fetal urination. Typically, this occurs in male fetuses.

Because the baby cannot empty the bladder, the bladder subsequently becomes very large and inflated. Also, because the amniotic fluid is essentially composed of the baby’s urine beyond the middle of the second trimester, the bag of waters dries up.

A cascade of secondary effects results in significant morbidity and/or mortality for the baby usually due to poor development of the baby’s lungs.

In some situations, a plastic tube (shunt) can be placed into the fetal bladder using ultrasound guidance. This bypasses the obstruction and allows for a return of normal amniotic fluid.

Depending on the severity, the mortality rate for babies with LUTO who do not receive treatment can be as high as 77%.

fetal syndromes SIUGR

Selective intrauterine growth retardation occurs when the blood supply from a shared placenta is unevenly distributed. (Graphic supplied by the author)

SIUGR is a potential problem that may occur in monochorionic twins. These types of identical twins are derived from one egg (monozygotic). They share a placenta. which is common in 80 to 85% in all monozygotic twins). 

Unfortunately, there is often a disproportionate distribution of placental mass between the twins. In other words, there is an unequal sharing of the placenta. This may result in poor nourishment of one of the twins, resulting in subsequent poor overall fetal growth.

Ultrasound findings such as a single placenta, same fetal sex, and absence of a “T-sign” in which the dividing membrane inserts perpendicular to the placenta as seen on early ultrasound are helpful in diagnosing a monochorionic twin gestation.

Expectant management and laser surgery are possible treatment options, depending on the severity of the condition. Without intervention and/or frequent expectant management, the mortality rate of at least one twin prior to birth is 40%.

fetal syndromes TTTS

In TTTS, one twin gets too much blood while the other baby does not get enough. (Graphic supplied by the author).


TTTS is a disease of the placenta that affects pregnancies with monochorionic twins (shared placenta in monozygotic/identical twins). Essentially, blood passes disproportionately from one baby to the other through connecting blood vessels within their shared placenta.

One baby, the recipient twin, gets too much blood overloading his or her cardiovascular system. That twin may die from heart failure. The other baby, the donor twin, does not get enough blood and may die from severe anemia.

Left untreated, mortality rates near 100%. TTTS is diagnosed by ultrasound, simply by assessing the discordance of amniotic fluid volume on either side of the dividing fetal membranes. The maximum vertical pocket (MVP) of amniotic fluid volume must be greater than or equal to 8.0 centimeters in the recipient’s sac, and less than or equal to 2.0 centimeters in the donor’s sac.

Various treatment options have been advocated, including amnioreduction, laser surgery, fetal septostomy, and umbilical cord occlusion. If laser surgery is selected, approximately 85% of patients will have at least one baby survive. In 50% of cases, both survive. With early detection and treatment, dual survivorship increases.

TRAPS is a serious complication of monochorionic twins (monozygotic/identical twins that share a placenta). Blood is perfused from one twin (“pump” twin) to the other twin who is “acardiac” (without a heart) The blood flow is retrograde ( or backward). That means that the acardiac twin receives deoxygenated (oxygen-depleted) arterial blood from the pump twin in the wrong direction.

Generally, the acardiac twin either has no heart of one that is quite underdeveloped. A fetus with this condition is very rarely fully developed. There is a tendency to have organs and cranial features that are under and non-developed.

The diagnosis is confirmed with the use of combined pulsed and color Doppler ultrasound studies. Depending on the severity, treatment options include expectant management, laser therapy, or umbilical cord occlusion.

Maternal-fetal care centers

At specialized maternal-fetal care centers, both moms and babies are provided with the best care possible. Most babies are delivered and receive the necessary care in the maternity ward of a local hospital. Babies that are diagnosed with fetal health syndrome, however, require special care.

Maternal-Fetal Care Centers provide specialized and coordinated care for both mother and baby before, during, and after complicated pregnancies. Typically, these centers are staffed by a team of specialists including:

  • Maternal-fetal medicine (MFM) specialists: obstetrician/gynecologists with additional training in maternal and fetal complications of pregnancy
  • Neonatologists: doctors with expertise caring for newborns with birth defects or complications associated with prematurity
  • Board-certified pediatric medical and surgical sub-specialists.

“Maternal-fetal care centers provide a framework for multi-specialist collaboration in the diagnosis and novel treatments of both mother and baby. This gives hope to families as they manage during this most difficult time in their lives,” said Mary Beth Martin, B.S.N., M.B.A., VP of Women’s and Children’s Services, Doernbecher Children’s Hospital and Fetal Health Foundation Founding Board Member. 

Additionally, maternal-fetal care centers have specialized equipment and tools that allow them to treat fetal heath syndromes in a variety of ways, depending on the diagnosis and severity of the individual case. This includes but is not limited to:

  • Expectant management (frequent ultrasound assessments)
  • Interventional medications
  • Amniocentesis
  • Open fetal and minimally invasive surgery.

Fetal Surgery

fetal syndromes fetal surgery

Fetal surgery is a highly complex surgical intervention that is used to mitigate birth defects while babies are still in the womb. (Photo source: Midwest Fetal Care Center, a collaboration of Allina Health and Children’s Minnesota)

Fetal surgery is a highly complex surgical intervention to mitigate birth defects while babies are still in the womb. It allows doctors to treat serious and life-threatening conditions and stop progressive damage, while also keeping the baby in utero long enough to grow and develop.

The first successful human fetal surgery case was performed in 1981 at the University of California, San Francisco. Since then, more than 5,000 fetal surgeries have been performed worldwide and procedures are being improved upon and developed annually.

Today, there are more than two dozen fetal treatment centers in the US alone, many of them conducting research in fetal medicine. Nearly 80% of these centers have emerged within the last 10 years.

Often opened under the umbrella of a children’s hospital, fetal therapy is recognized as one of the most promising fields in pediatric medicine. Further, prenatal surgery is becoming a viable and much-needed option for a growing number of babies with birth defects.

These surgeries and treatment options give patient families tangible hope to fulfill milestones and dreams of having a family while giving their babies a greater chance at life.

About the Fetal Health Foundation

The Fetal Health Foundation (FHF) is a national nonprofit focused on empowering and supporting expectant parents by providing the following:

  • information about fetal syndromes
  • access to world-class maternal-fetal medical experts
  • financial support
  • connections
  • counseling.

In addition, FHF funds research, increases awareness, and serves as an outlet for leading medical information pertaining to fetal conditions and syndromes. To learn more visit www.fetalhealthfoundation.org.

Talitha McGuinness

Website: https://www.fetalhealthfoundation.org/

Talitha McGuinness serves as the Executive Director for the Fetal Health Foundation. She has served in various roles, including Marketing and Creative Director, since the Foundation’s inception in 2006.

Having had twins diagnosed with TTTS and laser surgery as treatment at 17 weeks into her pregnancy, she knows all too well the journey that many patient families face during a fetal syndrome diagnosis. Her twin girls were born healthy, with no ill health effects from the diagnosis, which is what inspired her to get involved and give back so that others may have hope.

For years, Talitha has worked with the Foundation to form partnerships with leading fetal centers and children’s hospitals around the globe so that patient families might be better informed as to which centers offer various treatment options for their specific diagnoses. The Foundation’s Medical Advisory Board has helped build a unique online repository over the years, complete with information around diagnoses, treatment options, outcomes, etc. for close to 100 fetal syndromes. It is with this Medical Advisory Board that the Foundation ensures providing up-to-date, medically accurate information to those seeking help.

Talitha has been instrumental in organizing and leading a number of education and awareness campaigns and programs, including the Foundation’s flagship event, The Great Candy Run, and its annual Research Grant. In 2016, Talitha introduced Connexions magazine, an award-winning publication designed to share stories of hope, updates on research and treatment options, as well as provide information on resources such as grief support, etc. It serves a unique niche in serving both providers and patient families.

In the past two years, Talitha has successfully implemented National Fetal Syndrome Awareness Month during August, reaching an average of 40,000 people each month. She has also elevated the Foundation’s social media and website following, averaging more than 6,000 visitors per month. The Foundation has awarded more than $300,000 in Research Grants and has directly supported more than 500 patient families throughout the world through emails, phone calls, and emergency Travel Grants.

The Fetal Health Foundation is currently forming a new collaboration with the Fetal Therapy Think Tank, a diverse consortium of fetal medicine stakeholders working to advance the development of fetal diagnosis and treatment. Together, the organizations will offer even more innovative therapeutic options to patient families on their fetal syndrome journey. To learn more about the collaboration, visit fetaltherapythinktank.org. To learn more about the Fetal Health Foundation, visit www.fetalhealthfoundation.org.

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