Appeal type: Experimental/Investigational
Decision: Overturned

Physician 1The patient is a 41-year-old woman who is currently at 11 weeks gestation. She will be age 42 at the time of delivery. Her last pregnancy was in 2003. At that time, she underwent chorionic villus sampling (CVS) for prenatal diagnosis of fetal chromosomal abnormalities and unfortunately had a spontaneous miscarriage at approximately 15 weeks gestation. The patient is concerned about undergoing a CVS this pregnancy because of the bad outcome in her last pregnancy. The patient wishes to undergo integrated screening such as nuchal translucency instead of CVS to diagnose any chromosomal abnormalities in the current pregnancy. The Health Plan has denied authorization for the requested services on the basis that integrated screening is considered investigational. A screening test is used to determine if a given population is at risk for certain disease or conditions. A screening test for Down syndrome examines a group of individuals who are at low risk for having a fetus with Down syndrome. The screening test then identifies which of these low risk individuals are at a higher risk of having a Down syndrome fetus and therefore, warrant having a diagnostic test to determine if the fetus actually has Down syndrome. Because maternal age is a very strong factor, the American College of Obstetricians and Gynecologists (ACOG) recommends that all women who will be age 35 or older at time of delivery be offered a diagnostic test for fetal aneuploidy. The two main diagnostic tests for fetal aneuploidy are CVS and amniocentesis. ACOG states that the advantages of amniocentesis are: it is easier to perform because it tests the amniotic fluid, it offers a lower risk of miscarriage than CVS, and it can test for neural tube defects because it tests the amniotic fluid.The medical literature indicates there is a 5 to 10 times increase in miscarriage with CVS as compared to amniocentesis at 16 to 18 weeks gestation. The only advantage of CVS is finding out the fetus has Down syndrome earlier in the pregnancy.A few centers are investigating the use of ultrasonographic screening for Down syndrome in high-risk women to avoid invasive testing; however, ACOG considers this as controversial as CVS. These centers are using both first and second trimester ultrasounds. A fetal nuchal translucency test is a screening test and will not determine if the fetus has Down syndrome. Based on the results of studies performed to date, there is an 11 to 73% chance the fetal nuchal translucency test will miss a fetus with Down syndrome. Even the integrated screening test for Down syndrome (in which protein A is measured and an ultrasound for fetal nuchal translucency is performed) has a 15% chance of missing a fetus with Down syndrome. This patient will be age 42 at time of her delivery, which means she has a risk of 1 out of 5 of having a fetus with Down syndrome. Since the patient is already considered a high risk of having a fetus with Down syndrome she warrants a diagnostic test to determine if the fetus actually has Down syndrome, regardless of the results of a fetal nuchal translucency test. Since an amniocentesis has more medical advantages and the patient has had a previous fetal loss with CVS, she should be offered an amniocentesis at 16 to 18 weeks gestation. There is no indication for integrated screening in this patient.Based upon the information set forth above, I have determined that the requested services are not likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. The Health Plans denial should be upheld.Physician 2The patient is a 41-year-old female who is 11 weeks pregnant. Of note, the patient had some difficulties conceiving and after more than six months of attempting conception, was referred to an infertility specialist. The patient became pregnant shortly thereafter. Because of her advanced age, the patient was appropriately referred for genetic counseling and has opted for the less invasive first and second trimester integrated testing. She declined first trimester chorionic villus sampling (CVS) because she had undergone CVS at 10 weeks with her last pregnancy, and miscarried shortly thereafter. The chromosomal analysis of that pregnancy was normal (46xx) and the pathology on the D&C specimen indicated choriamnionitis, thereby implicating the CVS procedure as at least a contributing factor to her miscarriage. The Health Plan has denied authorization for integrated screening on the basis that it is considered investigational. The American College of Obstetricians and Gynecologists Committee Opinion of July 2004 endorses first trimester screening as well as first and second trimester integrated screening as options for diagnosing aneuploidy. The accuracy and sensitivity of these methods has been established, and when the results of the SURUSS trial from the UK and the Faster study from North America are available, it is likely integrated screening will become a more utilized option.This patients history of a miscarriage in 2003 following CVS emphasizes the risk of these invasive procedures, i.e., approximately 0.6% miscarriage rate for amniocentesis and 0.8% for CVS. Given the patients age, the difficulty she had conceiving, and her history of a prior miscarriage following CVS, noninvasive first and second trimester integrated screening is medically indicated. Therefore, I have determined that the requested services are likely to be more beneficial for evaluation of the patients medical condition than any available standard therapy. The Health Plans denial should be overturned.Physician 3The patient is a 41-year-old female at 11 weeks gestation who desires integrated screening. Because of a previous loss following chorionic villus sampling (CVS), the patient would prefer to undergo noninvasive integrated screening to reassess her risk. If the results of the screening indicate her risk is lowered sufficiently, the patient would not pursue invasive testing and therefore, would avoid the risk of a procedure related loss. The Health Plan has denied authorization for integrated screening on the basis it is considered investigational.First trimester screening (ultrasound measurement of nuchal translucency, serum PAPP-A, and -hCG) has been shown to be equivalent to or slightly better than second trimester screening at both detecting Down syndrome and maintaining a screen positive rate of less than 5%. Integrated screening (combining 1st and 2nd trimester screening) has the highest detection rate (90%) with the lowest screen positive rate (1%). None of these screening tests will diagnose Down syndrome; however, integrated testing will give the patient the best chance of avoiding a CVS or amniocentesis while still minimizing the risk of missing a fetus with Down syndrome. Therefore, I have determined that the requested services are likely to be more beneficial for evalua