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Prenatal Down Syndrome Screening

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Prenatal Down Syndrome Screening 가정의학회지 2003;24:775-780 J Korean Acad Fam Med ◇ 종 설 ◇ Prenatal Down Syndrome Screening Department of Obstetrics & Gynecology, College of Medicine, Korea University Min Jeong Oh, M.D. ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ Down syndrome is known as one of the most common causes of mental retardation. Screening for Down's syndrome in the second trimester of pregnancy, based on the concentrations of various markers in serum and maternal age, has become widely used in the past decade. Down's syndrome is associated with low maternal serum alpha-fetoprotein and unconjugated estriol concentrations and high maternal serum human chorionic gonadotropin and inhibin A concentrations. Measurements of the first three markers, in addition to age, constitute the widely used triple test; measurements of all four markers with age make up the quadruple test. The triple test shows 62% of detection rate and the quadruple test was substantially better than the triple test (70%). Also several sonographic markers, especially nuchal translucency and nasal bone apprears to be a highly effective method to screen for Down syndrome. ꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚꠚ INTRODUCTION and over 50% will be expected to survive beyond 50 years.3) This disorder is therefore one of the most important potential Screening has been defined as 'the systematic application of causes of mental retardation in the population. Women with a test or inquiry, to identify individuals at sufficient risk of a a Down syndrome affected fetus frequently choose to terminate specific disorder to benefit from further investigation or direct their pregnancy. However, this is not the goal of prenatal preventative action, among persons who have not sought screening and diagnosis. The aim of genetic screening programs medical attention on account of symptoms of the disorder. and prenatal diagnosis should be to maximize the options Criteria for worthwhile screening programs include a well- available to families rather than to reduce the prevalence of the defined medically important disorder with known prevalence disease. and tests that are cost-effective, safe, accessible, and have TRIPLE TEST (MSAFP+uE3+hCG) well-defined performance.1) Identification of women who are at high risk for fetal Down syndrome is consistent with this 1. Alpha-fetoprotein definition. In 1984, Merkatz et al. reported that maternal serum alpha- Down syndrome is clinically characterized by mental fetoprotein (MSAFP) levels were lower in pregnancies in which retardation, birth defects, and specific physical features that are fetal chromosomal abnormalities (primarily Down syndrome) identifiable at birth. Mental retardation ranges from mild to were present.4) The maternal age-specific risk is multiplied by severe with most cases showing a moderate level. At birth, a likelihood ratio determined by the heights of the MSAFP cardiac defects are present in approximately 56% of Down Gaussian distributions in affected and unaffected pregnancies. syndrome individuals, 11% show digestive tract anomalies and Fig. 1 illustrates the principle of using Gaussian distributions a diverse group of other anatomical defects may also be to modify risk. Using a 1：270 second trimester Down present.2) Approximately 85∼90% of individuals born with syndrome risk cut-off (equivalent to maternal age 35 in the Down syndrome can be expected to survive to 1 year of age absence of serum screening), it was estimated that MSAFP screening would allow an additional 20% of all affected 교신저자: 오민정 pregnancies to be identified. The biological function of AFP Tel: 02-818-6347, Fax: 02-838-1560 in the fetus remains poorly defined and the reason why MSAFP E-mail: [email protected] levels are lower in Down syndrome pregnancies is also unclear. Vol. 24, No. 9 775 Min Jeong Oh : Prenatal Down Syndrome Screening ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ Table 1. Expected detection rates for second trimester tests when the false positive rate is held at 5%. ꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧꠧ Screening test Detection rate (%) ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ Maternal age alone ≥38 years at delivery 32 Maternal age, plus MSAFP 36 Total hCG 49 uE3 48 INH-A 45 MSAFP+hCG 63 MSAFP+uE3+hCG 71 MSAFP+uE3+hCG+INH-A 79 ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ Figure 1. Use of Gaussian distributions to adjust risk. In this Detection rates for maternal age plus serum tests are based on example, the test result is 1.5 MoM. The relative probability that pregnancies dated by ultrasound, with correction for maternal the result is from the unaffected population is given by the height, weight. n, of the unaffected distribution at 1.5 MoM and the relative probability that the result is from the affected population is given by the height, d, of the affected distribution. The likelihood ratio little advantage over those that measure total hCG. is d/n=3.2/1.1=2.91. If the maternal age specific risk for Down syndrome is 1：500, the risk following the screening test is 2.91： 3. Unconjugated estriol 500 or 1：172. Likelihood ratios derived from independent tests can be multiplied together. When tests are not completely Isolated case reports and an early study noted lower than independent, the correlation factors need to be factored into the normal levels of estriol in maternal urine when fetal Down calculations. syndrome was present. Subsequent analysis of second trimester maternal serum indicated that a reduction of unconjugated uE3 High levels of AFP have been found in the placentas of affected is nearly as useful as hCG and is more powerful than MSAFP pregnancies suggesting a defect in the secretion of AFP into in distinguishing between affected and unaffected pregnancies the maternal circulation. (Table 1).6) UE3 is produced by the placenta from the fetal precursor mol- 2. Human chorionic gonadotropin ecule 16 alpha-hydroxydehydroepiandrosterone sulfate (DHEAS). Bogart et al. showed that second trimester maternal serum In Down syndrome pregnancies, both uE3 and DHEAS appear human chorionic gonadotropin (hCG) levels are generally to be lower than normal in the fetal liver, placental tissue, and higher in maternal serum when fetal Down syndrome is maternal serum. This indicates that Down syndrome preg- present.5) They noted that hCG appeared to be superior to nancies are characterized by a diminished supply of DHEAS. MSAFP in detecting fetal chromosome abnormalities. HCG is The concentration of uE3 rises very rapidly during the a glycoprotein composed of two dissimilar subunits, α and β, second trimester and this analyte may therefore be particularly produced by the placenta. In addition to intact hCG, maternal sensitive in identifying those pregnancies where the fetus is serum contains free α, free β, and degradation products small or underdeveloped at the time of screening. (nicked hCG). Intact hCG and free β-hCG show peak concentrations at 8∼10 weeks gestation while free α-hCG QUADRUPLE TEST does not peak until much later in pregnancy. In the second (MSAFP+uE3+hCG+Inhibin-A) trimester, assays to both α- and β-subunits will help identify Down syndrome pregnancies. However, testing with an The use of inhibin as an additional marker for Down antibody that identifies all β-subunits (intact hCG and free syndrome screening was first suggested by Van Lith et al.7) β-hCG combined) appears to be superior. Assays also exist Inhibins are dimeric glycoproteins synthesized by gonads and that identify only the free β-hCG but these appear to have placental tissue. There are two subunits, α and β, the latter 776 가정의학회지 오민정 : 산전 다운증후군 선별검사 ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏ existing in two forms, βA and βB, to form inhibin-A or (14%), ad the odds of being affected in those with a positive inhibin-B. It is the inhibin-A (INH-A) form that has been result less favourable (1：147) than those obtained with the shown to have the greatest practical utility in Down syndrome quadruple test (Table 2). screening. INH-A and hCG secretions appear to be in- Tabel 3 shows detection rates for a 5% false-positive rate terdependent, with increased production of INH-A by placental for all methods, before and after adjustment for the trophoblasts in pregnancies complicated by Down syndrome. spontaneous fetal loss of affected pregnancies after about 16 There is a moderately strong correlation between the maternal weeks of gestation. The adjusted detection rates show that the serum concentrations of hCG and INH-A in both affected and quadruple test was substantially better than the double test unaffected pregnancies.8) Nevertheless, INH-A still provides (70% vs 57%) and moderately better than the triple test (70% good distinction between affected and unaffected pregnancies, vs 62%). The additional advantage of the quadruple test over alone, or in combination with other tests and this can include the triple test is that, at the same 5% false-positive rate, it hCG (Table 1).9) detected 21% of the cases missed by the triple test. Procedures for performing the INH-A immunoassay were The quadruple test meets or exceeds performance ex- initially complex, limiting its practical adaptation to a routine pectations and appears to represent an improvement over the
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