Second-trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies. 2008

Aurélie Garchet-Beaudron, and Sophie Dreux, and Nathalie Leporrier, and Jean-François Oury, and Françoise Muller, and , and
Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris, France.

OBJECTIVE To analyze the value of Down syndrome (DS) second-trimester maternal serum screening in large series of twin pregnancies. METHODS Prospective study of second-trimester maternal serum markers [alpha fetoprotein (AFP) and free beta-human chorionic gonadotrophin (beta-hCG)] in 11,040 twin pregnancies, 27 of which were trisomy 21-affected. Comparison with 64,815 singleton pregnancies, of which 86 were trisomy 21-affected. Markers were expressed in multiple of median (MoM) corrected by a previously defined coefficient (2.1 for AFP and 2.07 or 2.16 for free beta-hCG, dichorionic or monochorionic, respectively). RESULTS Trisomy 21 frequency was 1/649 for twins and 1/754 in singletons (NS). Mean detection rate was 63% (71% when both twins were affected and 60% when one was affected), versus 74.4% in singletons. False-positive rates were 10.8% in twins versus 10.3% in singletons (NS). No significant differences in MoM AFP and free beta-hCG values were noted between twins and singletons (0.92 and 0.78 for AFP and 1.54 and 2.68 for free beta-hCG, respectively). CONCLUSIONS Our study demonstrates that second-trimester DS maternal serum marker screening can be performed in twin pregnancies.

UI MeSH Term Description Entries
D009035 Mothers Female parents, human or animal. Mothers' Clubs,Club, Mothers',Clubs, Mothers',Mother,Mother Clubs,Mother's Clubs,Mothers Clubs,Mothers' Club
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
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
D011272 Pregnancy, Multiple The condition of carrying two or more FETUSES simultaneously. Multiple Pregnancy,Multiple Pregnancies,Pregnancies, Multiple
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
D011446 Prospective Studies Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group. Prospective Study,Studies, Prospective,Study, Prospective
D004200 Diseases in Twins Disorders affecting TWINS, one or both, at any age. Diseases in Twin,Twin, Diseases in,Twins, Diseases in,in Twin, Diseases,in Twins, Diseases
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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