title: Genetic diagnosis before the eighth gestational week.
abstract: Transabdominal chorionic villus sampling (CVS) by a freehand, ultrasound-guided technique was offered to 210 high-genetic-risk women at 6-7 weeks' gestation. It was carried out in 201 cases and postponed in nine cases (4.3%). Sampling was successful in 86 and 100% of cases after the first and the second needle insertions, respectively. Chorionic tissue specimens weighed at least 20 mg in 86% of cases, and only 2% were below 10 mg. Early complications were present in 7.9% of cases, apparently without any adverse effect on maternal or fetal outcome. The rate of fetal loss was 3.5%. Genetic diagnosis was concluded in 1-3 days by rapid diagnostic methods. Although more extensive laboratory and clinical experience is necessary to evaluate adequately the safety of early transabdominal CVS, it may be advantageous to offer this technique to certain high-genetic-risk patients. The availability of genetic diagnosis before the eighth week makes clinical abortion by antiprogestins and prostaglandins a viable option in cases of affected embryos.
authors.affiliation: Clinica L. Mangiagalli, University of Milan, Italy.
authors.forename: B
authors.initials: B
authors.lastname: Brambati
authors.forename: L
authors.initials: L
authors.lastname: Tului
authors.forename: G
authors.initials: G
authors.lastname: Simoni
authors.forename: M
authors.initials: M
authors.lastname: Travi
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling / Q000379:methods*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal