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Knowing When to Intervene in Congenital Fetal Anomalies: The Patient-Centered Focus

November 2014 - Maternal Fetal Medicine

Various complications arising during pregnancy require prompt referral of the pregnant patient to maternal-fetal medicine specialists. These include medical conditions in the mother, increased risk of preterm delivery, placental abnormalities, and congenital fetal anomalies. A recent large study examining over 1 million pregnancies revealed that the current rate of congenital fetal anomalies is 28.9 per 1,000 live births. This study also identified the types of congenital malformations (excluding genetic syndromes) (Figure 1). Congenital fetal anomalies are extremely distressing to the patient and family, in part because of the many invasive tests and possible interventions that the patient must endure. At the University of Minnesota Health Fetal Diagnosis and Treatment Center, our maternal-fetal medicine specialists apply knowledge gained from leading-edge research to know when to intervene, and when intervention is not necessary. This ensures the best possible outcome for the pregnancy while maintaining a strong focus on the patient’s quality of life.

MFM chart no label-482x463
— Figure 1. Relative distribution of congenital malformations (excluding genetic syndromes)1

An excellent example of our patient-centered focus can be seen in the management of congenital pulmonary airway malformation (CPAM), a rare congenital cystic lesion of the lung. The reported incidence of CPAM ranges from 1 in 8,000 to 1 in 35,000 live births. 1, 2 CPAMs are characterized by airway cysts of varying size that are connected to the tracheobronchial tree.

CPAM can be associated with other findings, including cardiac anomalies, renal agenesis/dysgenesis, gastrointestinal atresia, and skeletal anomalies. 2, 3

The clinical course of prenatally detected CPAM is variable and is related to the size of the lesions. The mass often remains stable or may spontaneously regress in size before birth, particularly after 25 weeks of gestation. The majority of infants are asymptomatic at birth. Therefore, most patients can continue to receive care from their primary obstetrical provider and, after careful monitoring by our program team, will be cleared to deliver at their local hospital. Because of the risk of infection and of malignant transformation, resection of CPAM is recommended for all such infants, although often the surgery can be deferred until several months after birth.

Unfortunately, some infants will display respiratory distress and require emergent lobectomy after birth, and a few infants may have lung hypoplasia and require extracorporeal membrane oxygenation. Much more rarely, large CPAM lesions can result in polyhydramnios, mediastinal shift, hydrops fetalis, and relative pulmonary hypoplasia in the contralateral lung. The small percentage of CPAMs that lead to hydrops fetalis are associated with very high fetal and neonatal mortality rates. 3, 4

Determining which fetuses have a poor prognosis is critical to formulating appropriate surveillance and therapeutic strategies. In addition to 2D ultrasound imaging of the fetal anatomy, our team has access to the leading-edge Voluson® E8 ultrasound system, which produces high-quality 3D/4D images, allowing for earlier and more accurate diagnosis and prognosis. This enables us to formulate the most effective and least invasive management plan, which may include maternal steroid treatment, serial throacentesis, placement of a fetal thoracoamniotic shunt, or Extrauterine Intrapartum Treatment (EXIT).

References

1. Egbe A, Uppu S, Lee S, Stroustrup A, Ho D, Srivastava S. Congenital malformations in the newborn population: a population study and analysis of the effect of gender and prematurity. Pediatr Neonatol. 2014 Sep 26. pii:S1875-9572(14)00132-6. doi: 10.1016/j.pedneo.2014.03.010.

2. Shanti CM, Klein MD. Cystic lung disease. Semin Pediatr Surg. 2008;17:2-8.

3. Priest JR, Williams GM, Hill DA, Dehner LP, Jaffé A. Pulmonary cysts in early childhood and the risk of malignancy. Pediatr Pulmonol. 2009;44:14-30.

4. Illanes S, Hunter A, Evans M, et al. Prenatal diagnosis of echogenic lung: evolution and outcome. Ultrasound Obstet Gynecol. 2005;26:145-9.

When to refer

The Maternal-Fetal Medicine Center offers consultative or complete maternal and fetal care for pregnant patients with known or suspected maternal or fetal health problems. The dedicated team of specialists is accessible by referral to the Perinatal Assessment Center (PAC) for the care of maternal conditions or the Fetal Diagnosis and Treatment Center (FDTC) for the care of fetal conditions. Our University of Minnesota Health physicians create a custom team of caring experts based on your patient’s unique needs. Referral indications include women who:

  • Are of advanced maternal age
  • Are pregnant with a child with indications of a congenital abnormality
  • Are pregnant with multiples
  • Have pre-existing medical conditions
  • Have a history of preterm labor or delivery
  • Have other special needs related to pregnancy that require high-risk case management.

Collaborative Care

We offer consultation and recommendations, ongoing co-management or complete care at the discretion of the referring provider. Please contact us at any time with questions about your patients during business hours at 612-273-2223 or after hours at 1-800-MFM-FOR-U (636-3678) .

Our physicians are committed to maintaining timely, ongoing communication with you, including regular status reports. We make a special effort to partner with you to ensure that your patient can receive as much of her care as possible close to home. In some cases, the patient can be monitored at our program but continue to receive routine obstetrical care with you, and in some cases, she may also be able to deliver at her local hospital.

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