Journal ArticleDOI
Chorion biopsy in early pregnancy: A method of early prenatal diagnosis for inherited disorders
TLDR
Chorion biopsy was performed in 165 cases at 6–12 weeks of pregnancy, following an ultrasonic or embryo‐fetoscopic chorion frondosum localization, and pregnancies resulted in the timely delivery of full‐term healthy infants.Abstract:
Chorion biopsy was performed in 165 cases at 6–12 weeks of pregnancy, following an ultrasonic or embryo-fetoscopic chorion frondosum localization. One hundred patients had their biopsies taken immediately before induced abortion. In 39 cases abortion was carried out 5–10 days after biopsy. In 26 pregnant patients biopsy was performed for genetic reasons. Fetal sex was determined in ‘native’ smears from biopsy specimens for cytological investigation, using X- and Y-chromatin assays. Fetal sex diagnosis proved correct in all the cases. In 40 observations, the origin of the biopsy specimen was histologically checked. In 16 biopsy specimens, a number of enzymes were simultaneously assayed: β-D-ghcosidase, β-D-galacto-sidase, β-D-hexosaminidase, β-D-glucuronidase, α-L-fucosidase, β-D-mannosidase, sphingo-myelinase and arylsulphatase A. The levels of the above enzymes were compared to those observed in tissue cultures of amniotic cells obtained through amniocentesis at 16–18 weeks of pregnancy. The amniotic sac remained intact in all cases of chorion biopsy. If the pregnancy was maintained after the biopsy, no spontaneous abortions were recorded, and pregnancies resulted in the timely delivery of full-term healthy infants. Therefore, the method described is a valuable means of diagnosing inherited disorders, with promising applications in prenatal medicine.read more
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Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
Giuseppe Simoni,Bruno Brambati,Cesare Danesino,F. Rossella,G. L. Terzoli,Maurizio Ferrari,M. Fraccaro +6 more
TL;DR: Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures, and testing for the activity of eight enzymes directly from the villi samples showed that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases.
Journal ArticleDOI
The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities
George G. Rhoads,L. Jackson,Sarah E. Schlesselman,de la Cruz Ff,Robert J. Desnick,M S Golbus,David H. Ledbetter,Herbert A. Lubs,Maurice J. Mahoney,Eugene Pergament +9 more
TL;DR: It is concluded that chorionic villus sampling is a safe and effective technique for the early prenatal diagnosis of cytogenetic abnormalities, but that it probably entails a slightly higher risk of procedure failure and of fetal loss than does amniocentesis.
Journal ArticleDOI
Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound.
TL;DR: The technique of chorionic villous sampling using real time ultrasound is simple to learn and yields material for biochemical analysis and chromosomal study without the need for tissue culture.
Journal ArticleDOI
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.
Michel Goossens,Yves Dumez,Liliana Kaplan,Mieke Lupker,Claude Chabret,Roger Henrion,Jean Rosa +6 more
TL;DR: The study shows that chorionic biopsy is feasible for the prenatal diagnosis of sickle-cell disease before the 10th gestational week, and the ability to test in early pregnancy may make prenatal diagnosis acceptable to more couples at risk for serious genetic disorders.
Journal ArticleDOI
Diagnostic application of first trimester trophoblast sampling in 100 pregnancies
Giuseppe Simoni,Bruno Brambati,Cesare Danesino,G. L. Terzoli,L. Romitti,F. Rossella,M. Fraccaro +6 more
TL;DR: It is found that short-term incubation of villi permits the application of many experimental methods, such as visualization of sister chromatid exchanges and bromodeoxyuridine (BrdU) incorporation, which indicates the need for extensive characterisation in chorionic villi of the series of enzymes involved in metabolic diseases.
References
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Journal ArticleDOI
Fetal Chromosome Analysis After Transcervical Placental Biopsies During Early Pregnancy
Stig Kullander,Björn Sandahl +1 more
TL;DR: With an endocervicoscope 5 mm in diameter, and a fibre‐optic system, it was possible to biopsy the chorion through the cervical canal, during early human pregnancies from 8 to 20 weeks of duration, which tried in two cases of imminent abortion.
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Results and Pitfalls in Prenatal Cytogenetic Diagnosis
TL;DR: It is found that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotics fluids is used.
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Amniocentesis for antenatal diagnosis. Review of problems and outcomes in a large series.
TL;DR: The results of amniocentesis for diagnostic genetic studies on 242 patients are presented in detail as discussed by the authors, which suggest that obtaining fluid free from contaminating red blood cells is important to successful cell culture.
Journal ArticleDOI
A Preliminary Report about Transcervical Embryoscopy
TL;DR: The transcervical approach- using CO2-gas-hysteroscopy to visualize the amnion sac and its contents is reported about.