We collected data on 39 prenatally diagnosed osteochondrodysplasias. We detected 30 (76.9%) cases in the first and second trimesters, including 18 (46.2%) with two twins before the 24th week of gestation. Of 39 cases 11 (28.2%) had osteogenesis imperfecta (01) type 11. Verification of the prenatal d
Prenatal Diagnosis in High Risk Pregnancies for Zellweger Syndrome
β Scribed by Junichiro Aikawa; Koji Sato; Shigeaki Miyabayashi; Keiya Tada; Kuniaki Narisawa; Nobukazu Chida; Takashi Hashimoto
- Book ID
- 118711777
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 377 KB
- Volume
- 34
- Category
- Article
- ISSN
- 1328-8067
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
This study is a prospective clinical trial with fluorescent in situ hybridization (FISH) as a "routine" test for prenatal detection of the most common aneuploidies in high-risk pregnancies. Since April 1996, FISH studies with multicolor, commercially available, specific probes for chromosomes 13, 18
Fifteen pregnancies at risk for Lesch-Nyhan syndrome were investigated between 8 and 17 weeks' gestation by measurement of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) and adenine phosphoribosyl transferase (APRT) enzyme activities in chorionic villus samples (cultured and uncultured) or