Very low alpha-fetoprotein in Down syndrome maternal serum screening. 2003

Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
Service de Biochimie, Hôpital Ambroise Paré, 92104 Boulogne, France. francoise.muller@apr.ap-hop-paris.fr

OBJECTIVE To establish the frequency of very low maternal serum AFP and to differentiate congenital AFP deficiency from those diseases known to be associated with low AFP. METHODS AFP values below 2 microg/L and borderline values up to 3 microg/L were retrospectively analysed in 839 773 singleton pregnancies included in a programme for routine screening of trisomy 21 maternal serum markers. RESULTS Serum AFP was undetectable (< or =2 microg/L) in 8 cases, giving a frequency of 1/105 000. The calculated risk of Down syndrome was > or =1/250 in 5 cases. Fetal karyotype was normal. Seven of these pregnancies went to term (39-41 weeks) uneventfully, and birth weight was normal (3050-4110 g). In the 8th case, fetal death occurred at 35 weeks due to severe maternal diabetes. AFP levels between 2.1 and 3.0 microg/L were noted in 7 other cases. The calculated risk of Down syndrome was > or =1/250 in 5 cases, and fetal karyotype was normal. Pregnancies went to term in 4 cases (33-41 weeks), and birth weight was normal (3000-3380 g). In 3 cases, low hCG (<0.6 MoM) was associated with low AFP, and fetal death occurred at 15 to 16 weeks. CONCLUSIONS Once technical errors have been excluded (repeat assay in a second run, calcium assayed to exclude the interference of EDTA for fluorimetric methods, dilution to exclude interfering antibodies, running on an alternative analyser, checking a second sample), very low second-trimester maternal serum AFP should prompt ultrasound examination in order to check fetal viability. Congenital AFP deficiency, an extremely rare disorder (1/100 000), should be suspected. It has no consequences for fetal and infant development, and parents should be reassured.

UI MeSH Term Description Entries
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
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
D011256 Pregnancy Outcome Results of conception and ensuing pregnancy, including LIVE BIRTH; STILLBIRTH; or SPONTANEOUS ABORTION. The outcome may follow natural or artificial insemination or any of the various ASSISTED REPRODUCTIVE TECHNIQUES, such as EMBRYO TRANSFER or FERTILIZATION IN VITRO. Outcome, Pregnancy,Outcomes, Pregnancy,Pregnancy Outcomes
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
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
D003677 Deficiency Diseases A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) Deficiency Disease,Disease, Deficiency,Diseases, Deficiency
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
D005315 Fetal Diseases Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES. Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D005602 France A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris. Corsica,Saint Pierre and Miquelon,Miquelon and Saint Pierre,Miquelon and St. Pierre,St. Pierre and Miquelon

Related Publications

Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
November 1990, The Australian & New Zealand journal of obstetrics & gynaecology,
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
February 1985, Lancet (London, England),
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
October 1987, Prenatal diagnosis,
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
July 1989, Alabama medicine : journal of the Medical Association of the State of Alabama,
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
May 1986, Orvosi hetilap,
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
September 1988, American journal of medical genetics,
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
June 1984, Lancet (London, England),
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
April 1984, Lancet (London, England),
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
January 1986, Lancet (London, England),
Françoise Muller, and Sophie Dreux, and Corinne Sault, and Armelle Galland, and Hugues Puissant, and Gisèle Couplet, and Catherine Lemay, and Marie-Estelle Larcher, and Gilles Renom, and
March 1995, Nihon Sanka Fujinka Gakkai zasshi,
Copied contents to your clipboard!