[Genetic amniocentesis: technique and results in 1,000 first trimester amniocenteses (author's transl)]. 1980

W Schmidt, and J Gabelmann, and U Müller, and T Voigtländer, and H D Hager, and T M Schroeder, and L Garoff, and F Kubli

The results of 1,000 transabdominal amniocenteses between 15 and 20 weeks gestation are reported. The method is described. The bio-chemical and cytogenetic results are reported. - Amniocentesis in the first trimester is not a routine investigation since fetal and maternal risks are associated with this procedure. The risk of abortion following amniocentesis was lowered from 6/1000 to 2/500 by improvement of the technique under ultra-sound control. The worst maternal complication observed was a septic abortion one day after amniocentesis. 96% of all cyto-genetic examinations showed normal karotypes. The largest group at risk were mothers over 35 years of age. In this group chromosome anomalies were found in 17 cases. All neural tube defects were found by determination of the alpha-fetoprotein in the amniotic fluid. 26 terminations of pregnancy for fetal indications were carried out. Two patients refused therapeutic abortions despite trisomy 21 for ethical reasons. One patient continues her pregnancy with a 47 XYZ pregnancy.

UI MeSH Term Description Entries
D008423 Maternal Age The age of the mother in PREGNANCY. Age, Maternal,Ages, Maternal,Maternal Ages
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
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
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
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
D000028 Abortion, Induced Intentional removal of a fetus from the uterus by any of a number of techniques. (POPLINE, 1978) Embryotomy,Abortion (Induced),Abortion Failure,Abortion History,Abortion Rate,Abortion Technics,Abortion Techniques,Abortion, Drug-Induced,Abortion, Rivanol,Abortion, Saline-Solution,Abortion, Soap-Solution,Anti-Abortion Groups,Fertility Control, Postconception,Induced Abortion,Previous Abortion,Abortion Failures,Abortion Histories,Abortion Rates,Abortion Technic,Abortion Technique,Abortion, Drug Induced,Abortion, Previous,Abortion, Saline Solution,Abortion, Soap Solution,Abortions (Induced),Abortions, Drug-Induced,Abortions, Induced,Abortions, Previous,Abortions, Rivanol,Abortions, Saline-Solution,Abortions, Soap-Solution,Anti Abortion Groups,Anti-Abortion Group,Drug-Induced Abortion,Drug-Induced Abortions,Embryotomies,Failure, Abortion,Failures, Abortion,Group, Anti-Abortion,Groups, Anti-Abortion,Histories, Abortion,History, Abortion,Induced Abortions,Postconception Fertility Control,Previous Abortions,Rate, Abortion,Rates, Abortion,Rivanol Abortion,Rivanol Abortions,Saline-Solution Abortion,Saline-Solution Abortions,Soap-Solution Abortion,Soap-Solution Abortions,Technic, Abortion,Technics, Abortion,Technique, Abortion,Techniques, Abortion
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000649 Amniocentesis Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. Amniocenteses

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