In current screening test for Down’s syndrome (namely maternal serum alpha-fetoprotein-AFPhuman chronic gonadotropinhCG-, unconjugated estriol plus maternal age) an elevated level of hCG is an important predictor of fetal aneuploidy (1). The positive predictive value of the multiple marker screening test is approximately 4.3% (2). Besides Down’s syndrome, triploidy, trophoblastic diseases, and ...

Case presentation: Male patient, 11 years of age, referred to the service at 1 old, due developmental delay and hypotonia. At birth, presented with difficulty in feeding, 6 months hypotonia was identified. Sat old currently walks assistance, is able speak monosyllabic words tonic syllables, grabs objects difficulty. Electroneuromyography, cranial magnetic resonance, autoimmune tests, urine orga...

Featured article: Wald NJ, Cuckle HS, Densem JW, Nanchahal K, Royston P, Chard T, et al. Maternal serum screening for Down’s syndrome in early pregnancy. BMJ 1988;297:883–7. The era of organized prenatal screening began in the mid-1970s with the discovery that maternal serum -fetoprotein (AFP) could be used as a screening test for neural tube defects. This discovery led to work on how screening...

OBJECTIVE To review the obstetrical outcomes associated with abnormally elevated or decreased level of one or more of the most frequently measured maternal serum marker analytes used in screening for aneuploidy. To provide guidance to facilitate the management of pregnancies that have abnormal levels of one of more markers and to assess the usefulness of these markers as a screening test. OPT...

UNLABELLED Congenital syphilis (CS) is an important health problem in Chile, with a rate of 0.25/1,000 live newborn (NB) during year 2004. In 2000, the Chilean Ministry of Public Health recommended to perform a screening in cord blood at the moment of delivery. Instead, the Centers for Disease Control and Prevention guidelines recommend the screening in maternal serum since cord blood has up to...

Background: Autism is a neurodevelopmental disorder that onset in the first 3 years of life and led to lifelong disability.Despite the early onset of symptoms, diagnosis of thissyndromedoes not happenuntil severalyears later, somany childrenlosethe opportunityfor earlyintervention.There arevarious toolsforscreening anddiagnosis, buttheirdesign, strengths and weaknesses aredifferent. The aim of ...

UNLABELLED In the following paper we have presented the results of non-invasive and invasive prenatal diagnostic tests performed on 2285 pregnant women from the Western-Pomeranian Region between 2005 and 2006. MATERIAL AND METHODS Retrospective analysis of screening tests on 2285 pregnant women. Medical history, including age, weight, familial data pedigrees up to third degree relatives, acco...

Since the introduction of antenatal serum screening for Down's syndrome (DS) more than two decades ago, several screening approaches have been utilized in routine clinical practice. The current DS screening strategies involve mid-trimester serum biochemistry tests, first trimester tests combining sonographic markers and serum biochemistry and integration of first and second trimester markers. I...

The aim of the present study was to evaluate the efficacy of the first trimester screening for Down syndrome (DS) in an unselected low-risk Finnish population. The study involved 4,617 women who attended screening between the 8th and 14th weeks of pregnancy in 1998-2000. They gave a blood sample for the measurement of pregnancy associated plasma protein A (PAPP-A) and free beta human chorionic ...

BACKGROUND Alpha-fetoprotein (AFP) is the major serum protein in the embryonic stage and in the early fetal stage. The aim of this study was to determine any possible association between an "unexplained" elevation of maternal serum alpha-fetoprotein (MSAFP) levels in the second trimester of pregnancy and adverse maternal/fetal outcome. METHODS A retrospective cohort study, was carried out in ...