Integrated first- and second-trimester Down syndrome screening test among unaffected IVF pregnancies. 2004

Ron Maymon, and Adrian Shulman
Department of Obstetrics and Gynecology, Assaf Harofe Medical Center, Zerifin, and the Sackler Faculty of Medicine, Tel Aviv University, Israel. intposgr@post.tau.ac.il

OBJECTIVE The aim of the current study was to assess the profile of markers that constitute the integrated test and to measure its false-positive rates (FPR) among a preselected group of unaffected IVF pregnancies. These results were compared with the reference laboratory values that reflect the general obstetric population, which underwent the same investigative protocol. METHODS Ninety-nine unaffected singletons from IVF-pregnant women and 1781 controls, all evaluated by the same laboratory, underwent a nondisclosure integrated Down syndrome screening test. This test comprised first-trimester nuchal translucency (NT) and pregnancy-associated plasma protein-A (PAPP-A) assessment, followed by a midgestation quadruple test. Only upon completion of the integrated screening test, the parturient women were informed of its results. RESULTS The mean maternal age of the study and the control group was 32.2 +/- 4 and 30.4 +/- 4 years respectively (t-test <0.005). The marker levels were expressed as multiples of the gestation-specific normal medians. The IVF group had lower PAPP-A (0.78 vs 1.03, t-test P < 0.05) and higher NT (1.14 vs 1.01, t-test P < 0.05) values, respectively. All the other markers were similar for both groups. On the basis of the integrated test, a higher rate of IVF pregnancies were defined as being screen-positive (6.1% vs 3.7%), although the values did not reach a level of statistical significance. CONCLUSIONS Since NT alone yielded the same FPR as the integrated test, the option of various sonographic screening combinations in this group warrants further investigation.

UI MeSH Term Description Entries
D007265 Inhibins Glycoproteins that inhibit pituitary FOLLICLE STIMULATING HORMONE secretion. Inhibins are secreted by the Sertoli cells of the testes, the granulosa cells of the ovarian follicles, the placenta, and other tissues. Inhibins and ACTIVINS are modulators of FOLLICLE STIMULATING HORMONE secretions; both groups belong to the TGF-beta superfamily, as the TRANSFORMING GROWTH FACTOR BETA. Inhibins consist of a disulfide-linked heterodimer with a unique alpha linked to either a beta A or a beta B subunit to form inhibin A or inhibin B, respectively Female Inhibin,Inhibin,Inhibin-F,Inhibins, Female,Inhibins, Testicular,Ovarian Inhibin,Testicular Inhibin,Female Inhibins,Inhibin F,Inhibin, Female,Inhibin, Ovarian,Inhibin, Testicular,Testicular Inhibins
D008137 Longitudinal Studies Studies in which variables relating to an individual or group of individuals are assessed over a period of time. Bogalusa Heart Study,California Teachers Study,Framingham Heart Study,Jackson Heart Study,Longitudinal Survey,Tuskegee Syphilis Study,Bogalusa Heart Studies,California Teachers Studies,Framingham Heart Studies,Heart Studies, Bogalusa,Heart Studies, Framingham,Heart Studies, Jackson,Heart Study, Bogalusa,Heart Study, Framingham,Heart Study, Jackson,Jackson Heart Studies,Longitudinal Study,Longitudinal Surveys,Studies, Bogalusa Heart,Studies, California Teachers,Studies, Jackson Heart,Studies, Longitudinal,Study, Bogalusa Heart,Study, California Teachers,Study, Longitudinal,Survey, Longitudinal,Surveys, Longitudinal,Syphilis Studies, Tuskegee,Syphilis Study, Tuskegee,Teachers Studies, California,Teachers Study, California,Tuskegee Syphilis Studies
D009098 Multiphasic Screening The simultaneous use of multiple laboratory procedures for the detection of various diseases. These are usually performed on groups of people. Automated Multiphasic Health Testing,Multiphasic Screenings,Screening, Multiphasic,Screenings, Multiphasic
D009333 Neck The part of a human or animal body connecting the HEAD to the rest of the body. Necks
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011261 Pregnancy Trimester, First The beginning third of a human PREGNANCY, from the first day of the last normal menstrual period (MENSTRUATION) through the completion of 14 weeks (98 days) of gestation. Early Placental Phase,Pregnancy, First Trimester,Trimester, First,Early Placental Phases,First Pregnancy Trimester,First Pregnancy Trimesters,First Trimester,First Trimester Pregnancies,First Trimester Pregnancy,First Trimesters,Phase, Early Placental,Phases, Early Placental,Placental Phase, Early,Placental Phases, Early,Pregnancies, First Trimester,Pregnancy Trimesters, First,Trimesters, First
D011262 Pregnancy Trimester, Second The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation. Midtrimester,Pregnancy, Second Trimester,Trimester, Second,Midtrimesters,Pregnancies, Second Trimester,Pregnancy Trimesters, Second,Second Pregnancy Trimester,Second Pregnancy Trimesters,Second Trimester,Second Trimester Pregnancies,Second Trimester Pregnancy,Second Trimesters,Trimesters, Second
D011266 Pregnancy-Associated Plasma Protein-A A product of the PLACENTA, and DECIDUA, secreted into the maternal circulation during PREGNANCY. It has been identified as an IGF binding protein (IGFBP)-4 protease that proteolyzes IGFBP-4 and thus increases IGF bioavailability. It is found also in human FIBROBLASTS, ovarian FOLLICULAR FLUID, and GRANULOSA CELLS. The enzyme is a heterotetramer of about 500-kDa. PAPP-A,IGFBP-4 Metalloproteinase,IGFBP-4 Protease,IGFBP-4-Specific Proteinase,Insulin-Like Growth Factor-Dependent IGF Binding Protein-4 Protease,Insulin-Like-Growth Factor Binding Protein-4 Protease,PAPP-alpha,Pregnancy Associated alpha Plasma Protein,Pregnancy-Associated alpha-Plasma Protein,IGFBP 4 Metalloproteinase,IGFBP 4 Protease,Insulin Like Growth Factor Binding Protein 4 Protease,Insulin Like Growth Factor Dependent IGF Binding Protein 4 Protease,Metalloproteinase, IGFBP-4,PAPP alpha,Pregnancy Associated Plasma Protein A,Protease, IGFBP-4
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's

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