Abstract: A method of determining an inclusive residual risk that a pregnancy is affected by at least one phenotypic disorder included in a disorder set is provided. The method includes calculating a prior risk for a disorder set, calculating posterior risks for the individual disorders or groups of disorders in the disorder set that can be screened for and/or diagnosed prenatally, and calculating an inclusive residual risk for the disorder set by combining the prior risks for disorders for which no tests have been performed and the individual posterior risks.

Abstract: A method of determining an inclusive residual risk that a pregnancy is affected by at least one phenotypic disorder included in a disorder set is provided. The method includes calculating a prior risk for a disorder set, calculating posterior risks for the individual disorders or groups of disorders in the disorder set that can be screened for and/or diagnosed prenatally, and calculating an inclusive residual risk for the disorder set by combining the prior risks for disorders for which no tests have been performed and the individual posterior risks.

Abstract: This invention represents a significant advance in prenatal diagnosis by providing urinary screening to detect fetal aneuploidies. Herein disclosed are methods for prenatally assessing risks of a pregnancy being affected by Down syndrome and other aneuploidies by testing maternal urine samples for levels of .beta.-core-hCG. Levels of maternal urinary .beta.-core-hCG above normal indicate a risk that the pregnancy is affected with Down syndrome, and in general risks of other fetal aneuploidies are indicated by either lower than normal or higher than normal maternal urinary .beta.-core-hCG levels. Assessments can be made based on urinary .beta.-core-hCG levels alone or in conjunction with levels of other urinary and/or serum markers, ultrasound parameters and other factors, such as, maternal age.

Abstract: Herein disclosed are methods for prenatally assessing risks of a pregnancy being affected by Down syndrome by testing maternal urine samples for levels of urinary gonadotropin peptide (UGP) elevated above normal. The methods employ immunoassays that are highly specific for UGP and have molar cross-reactivities of less than about 10% with intact hCG, with .beta.-subunit hCG, and with .alpha.-subunit hCG. The immunoassay methods of this invention are useful to test first trimester maternal urine samples. Among other benefits, first trimester prenatal screening provides the opportunity to terminate the pregnancy at an early gestational age, in the case of an unfavorable outcome.

Abstract: Kits are provided for prenatal screening tests for risk of Down's syndrome which are carried out on a maternal serum sample obtained before the beginning of the third trimester of pregnancy. The kits contain immunoassay means to determine alpha-fetoprotein, unconjugated oestriol, human chorionic gonadotrophin, and/or dehydroepiandrosterone sulfate (DHEAS).

Abstract: A prenatal screening test for risk of Down's Syndrome in a foetus, which is carried out on a maternal blood sample before the beginning of the third trimester of pregnancy, by assaying the sample for a metabolite of feto-placental activity which is affected by the presence of Down's Syndrome, selected from unconjugated oestriol; progesterone; 16-alpha-hydroxy-dehydroepiandrosterone sulphate (16-alpha-hydroxy-DHEAS); and dehydroepiandrosterone sulphate (DHEAS). An additional assay for alpha-fetroprotein and/or human chorionic gonadotrophin may be included.