[Use of modern methods in prenatal diagnosis of congenital adrenal hyperplasia--examination protocol].
The prenatal diagnosis of congenital adrenal hyperplasia (CAH) in the second trimester of gestation (as done so far in this country) is late and unsuitable with regard to possible interruption of pregnancy. Modern methods of early prenatal diagnosis are based on examination of material from chorionic villi (6th-10th week of gestation) or early amniocentesis (10th-12th week of gestation). The authors present their decision taking scheme, examination protocol and their own experience with the use of molecular genetic analysis and assessment of 17-hydroxyprogesterone from early amniocentesis in the prenatal diagnosis of CAH. This procedure is a priority in this country.
Snajderová
M
M
II. dĕtská klinika, 2. LF a FN v Motole, Praha.
Kolousková
S
S
Sulcová
J
J
Hampl
R
R
Smeral
P
P
Zd'árský
E
E
Stroufová
A
A
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis