1. Aetna considers fetal echocardiograms, Doppler and color flow mapping medically necessary for any of the following conditions:

   1. A mother with insulin dependent diabetes mellitus or systemic lupus erythematosus; or
   2. As a screening study in families with a first-degree relative with a history of congenital heart disease; or
   3. Fetal nuchal translucency measurement of 3.5 mm or greater in the first trimester; or
   4. Following an abnormal or incomplete cardiac evaluation on an anatomic scan, 4-chamber study

      (Note: When the 4-chambered view is adequate and there are no other indications of a cardiac abnormality, a fetal echocardiogram is not considered medically necessary); or

   5. For ductus arteriosus dependent lesions and/or with other known complex congenital heart disease; or
   6. For pregnancies conceived by in vitro fertilization (IVF) or intra-cytoplasmic sperm injection (ICSI); or
   7. In cases of single umbilical artery; or
   8. In cases of suspected or known fetal chromosomal abnormalities; or
   9. In suspected or documented fetal arrhythmia: to define the rhythm and its significance, to identify structural heart disease and cardiac function; or
   10. In members with autoimmune antibodies associated with congenital cardiac anomalies [anti-Ro (SSA)/anti-La (SSB)]; or
   11. In members with familial inherited disorders associated with congenital cardiac abnormalities (e.g., Marfan syndrome); or
   12. In cases with monochorionic twins or multiple gestation and suspicion of twin-twin transfusion syndrome; or
   13. In members with seizure disorders, even if they are not presently taking anti-seizure medication; or
   14. In cases with non-immune fetal hydrops or unexplained severe polyhydramnios; or 
   15. When members' fetuses have been exposed to drugs known to increase the risk of congenital cardiac abnormalities including but not limited to:

       1. Anti-seizure medications; or
       2. Excessive alcohol intake; or
       3. Lithium; or
       4. Paroxetine (Paxil); or
       5. Retinoids; or

   16. When other structural abnormalities are found on ultrasound; or 

2. Aetna considers repeat studies of fetal echocardiograms medically necessary when the initial screening study indicates any of the following:

   1. A ductus arteriosus dependent lesion; or
   2. Structural heart disease with a suggestion of hemodynamic compromise; or
   3. Tachycardia other than sinus tachycardia or heart block.
       

3. Aetna considers fetal echocardiograms experimental and investigational for all other indications (e.g., suspected cystic fibrosis, as a screening test in advanced maternal age) because their effectivenes for these indications has not been established.

Definition of fetal cardiac structures is currently possible at 10 to 12 weeks of gestation with the use of vaginal probes with high-resolution transducers.  With current technologies, accurate segmental analysis of cardiac structures and blood flow across valves, shunts, and the ductus arteriosus is possible with a conventional transabdominal approach by 16 to 18 weeks of gestation.

Patients are referred for fetal echocardiography because of an abnormality of structure or rhythm noted on ultrasound examination or because the patient is in a high-risk group for fetal heart disease.  Treatment of the patient is facilitated by the early recognition of the exact nature of the cardiac problem in the fetus.  The correct diagnosis may be difficult because of fetal physiology, the effect on flow across defects and valves, inability to see the fetus for orientation reference, and inability to examine the fetus for clinical findings.  For these reasons, fetal echocardiography should be performed only by trained fetal echocardiographers.

A single umbilical artery (SUA) is present in 0.2 % to 0.6 % of live births, occurring more frequently in twins and in small for gestational age and premature infants.  In infants with SUA, there is an increased rate of chromosomal and other congenital anomalies.  Studies have shown that 20 % to 30 % of neonates with SUA had major structural anomalies, frequently involving multiple organs (Palazzi and Brandt, 2009; Thummala et al, 1998).  The most commonly affected organ is the heart.  Single umbilical artery is an isolated finding in the remaining 70 % to 80 % of infants. 

Conception by in vitro fertilization (IVF) or intra-cytoplasmic sperm injection (ICSI) has been associated with an increased incidence of fetal heart defects.  A meta-analyses on the prevalence of birth defects in infants conceived following IVF and/or ICSI compared with spontaneously conceived infants reported a 30 % to 40 % increased risk of birth defects associated with IVF and/or ICSI (Hansen et al, 2005).  Researchers have reported that infants conceived with the use of IVF and/or ICSI have a 2-to-4-fold increase of heart malformations compared with naturally conceived infants.

Kurinczuk and Bower (1997) examined the prevalence of birth defects on 420 liveborn infants who were conceived after ICSI in Belgium compared with 100,454 liveborn infants in Western Australia delivered during the same period.  Infants born after ICSI were twice as likely as Western Australian infants to have a major birth defect [odds ratio (OR) 2.03, 95 % confidence interval (CI): 1.40 to 2.93); p = 0.0002] and nearly 50 % more likely to have a minor defect (OR 1.49 (0.48 to 4.66); p = 0.49).  Secondary data-led analyses found an excess of major cardiovascular defects (OR 3.99).

Koivurova et al (2002) evaluated the neonatal outcome and the prevalence of congenital malformations in children born after IVF in northern Finland in a population-based study with matched controls.  Children born after IVF (n = 304) in 1990 to1995 were compared with controls (n = 569), representing the general population in proportion of multiple births, randomly chosen from the Finnish Medical Birth Register (FMBR) and matched for sex, year of birth, area of residence, parity, maternal age and social class.  Plurality matched controls were randomly chosen from the FMBR and analyzed separately.  Additionally, IVF singletons were compared with singleton controls. The prevalence of heart malformations was four-fold in the IVF population than in the controls representing the general population (OR 4.0, 95 % CI: 1.4 to 11.7). 

Reefhuis et al (2009) analyzed data from the National Birth Defects Prevention Study, a population-based, multi-center, case-control study of birth defects.  Included were mothers of fetuses or live-born infants with a major birth defect (case infants) and mothers who had live-born infants who did not have a major birth defect (control infants), delivered during the period October 1997 to December 2003.  Mothers who reported IVF or ICSI use were compared with those who had unassisted conceptions.  Among singleton births, IVF or ICSI use was associated with septal heart defects (adjusted odds ratio [aOR] = 2.1, 95 % CI: 1.1 to 4.0).

As fetal heart disease is typically associated with structural abnormalities and consequent aberrant blood flow through the heart, it is necessary to perform Doppler studies and color flow mapping when such abnormalities are detected with 2D fetal echocardiography.

The American College of Obstetricians and Gynecologists' Committee Opinion on the treatment with selective serotonin reuptake inhibitors during pregnancy (ACOG, 2006) noted that paroxetine use among pregnant women and women planning pregnancy should be avoided, if possible.  Fetal echocardiography should be considered for women who were exposed to paroxetine in early pregnancy.

In a practice bulletin on screening for fetal chromosomal anomalies, ACOG (2007) has stated that patients who have a fetal nuchal translucency measurement of 3.5 mm or greater in the first trimester, despite a negative result on an aneuploidy screen, normal fetal chromosomes, or both, should be offered a targeted ultrasound examination, fetal echocardiogram, or both, because such fetuses are at a significant risk for non-chromosomal anomalies, including congenital heart defects, abdominal wall defects, diaphragmatic hernias, and genetic syndromes.

Twin-twin transfusion syndrome (TTTS) is a severe complication of monochorionic (1 placenta) twin pregnancies, characterized by the development of unbalanced chronic blood transfer from one twin, defined as donor twin, to the other, defined as recipient, through placental anastomoses.  If left untreated, TTTS is associated with very high peri-natal mortality and morbidity rates; and fetuses who survive are at risk of severe cardiac, neurological, and developmental disorders.

The American Society of Echocardiography's guidelines and standards for performance of the fetal echocardiogram (Rychik et al, 2004) stated that multiple gestation and suspicion of TTTS is an indication of fetal echocardiography.

Bahtiyar et al (2007) noted that congenital heart defects (CHDs) affect approximately 0.5 % of all neonates.  Recent literature points to a possible increase in the CHD prevalence among monochorionic/diamniotic (MC/DA) twin gestations.  These researchers hypothesized that MC/DA twin pregnancy is a risk factor for CHD.  A systematic review of all published English literature was conducted on MEDLINE (Ovid and PubMed) from January 2000 through April 2007 using the medical subject heading terms "congenital heart defect" and "monozygotic twins".  Four observational studies were included in the final analysis.  Published historical data were used for the population background risk of CHD.  Relative risk (RR) estimates with 95 % confidence intervals (CIs) were calculated by fixed and random effect models.  These investigators included a total of 40 fetuses with CHDs among 830 fetuses from MC/DA twin gestations.  Compared with the population, CHDs were significantly more prevalent in MC/DA twins regardless of the presence of TTTS (RR, 9.18; 95 % CI: 5.51 to 15.29; p < 0.001).  Monochorionic/diamniotic twin gestations affected by TTTS were more likely to be complicated by CHDs than those that did not have TTTS (RR, 2.78; 95 % CI: 1.03 to 7.52; p = 0.04).  Ventricular septal defects were the most frequent heart defects.  Pulmonary stenosis and atrial septal defects were significantly more prevalent in pregnancies complicated with TTTS.  The authors concluded that MC/DA twin gestation appears to be a risk factor for CHDs.  Conditions that lead to abnormal placentation may also contribute to abnormal heart development, especially in MC/DA twin pregnancies complicated with TTTS.  Fetal echocardiography may be considered for all MC/DA twin gestations because ventricular septal defects and pulmonary stenosis are the most common defects.

The Royal College of Obstetricians and Gynaecologists' clinical practice guidelines on "Management of monochorionic twin pregnancy" (RCOG, 2008) stated that a fetal echocardiographic assessment should be considered in the assessment of severe TTTS.

Appendix

Documentation Requirements for Fetal Echocardiography:

According to guidelines from the American Institute for Ultrasound in Medicine (AIUM), fetal echocardiography should include the following cardiac images:

• Aortic arch;
• Ductal arch;
• Four-chamber view;
• Inferior vena cava;
• Left ventricular outflow tract;
• Right ventricular outflow tract;
• Short-axis views (“low” for ventricles and “high” for outflow tracts);
• Superior vena cava; and
• Three-vessel and trachea view.

According to the 2010 AIUM's practice guideline on "Performance of Fetal Echocardiography", indications for fetal echocardiography are often based on a variety of parental and fetal risk factors for congenital heart disease.  However, most cases are not associated with known risk factors.  Common indications for a detailed scan of the fetal heart include but are not limited to:

Maternal Indications Associated with Congenital Heart Disease:

• Autoimmune antibodies [anti-Ro (SSA)/anti-La (SSB)]
• Familial inherited disorders (e.g., Marfan syndrome)
• First-degree relative with congenital heart disease
• In-vitro fertilization
• Metabolic disease (e.g., diabetes mellitus and phenylketonuria)
• Teratogen exposure (e.g., lithium and retinoids)

Fetal Indications:

• Abnormal cardiac screening examination
• Abnormal heart rate or rhythm
• Fetal chromosomal anomaly
• Extra-cardiac anomaly
• Hydrops
• Increased nuchal translucency
• Monochorionic twins
• Unexplained severe polyhydramnios

This AIUM practice guideline was published in conjunction with the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM).  Furthermore, this practice guideline was endorsed by the American College of Radiology (ACR).

Source: AIUM, February 2010. Available at: https://www.smfm.org/attachedfiles/fetalEchoaiumsmfm.pdf