妇产科学-Prenatal Diagnosis.ppt

Prenatal diagnosis Jianghua Congenital Abnormalities Definition: Abnormalities of the neonate, evident at birth. (With the use of antenatal diagnostic tests, these same defects may be detected before birth, and are still classified as congenital defects) Congenital Abnormalities Incidence Major: 2-3% Minor: 14% cause of 20% of deaths in first week of life. Congenital Abnormalities Congenital Abnormalities Chromosomal defects (numerical defects) Down syndrome (trisomy 21) 1 in 600-700 livebirths Edward’s syndrome (trisomy 18) Patou’s syndrome (trisomy 13) Sex-chromosome aneuploidies Turner’s syndrome (45,X) Klinefelter’s syndrome (47,XXY) 47,XXX; 47,XYY Congenital Abnormalities Gene defects - inheritance Autosomal recessive Autosomal dominant chance mutation Causes base substitution, deletion or addition Congenital Abnormalities Gene defects - examples Cystic fibrosis thalassemia Fragile-X Prader- Willi etc etc Congenital Abnormalities Maternal conditions Diabetes PKU alcoholism smoking Infectious causes (see later lecture) Congenital Abnormalities Mechanical problems amniotic bands / early amnion rupture sequence umbilical cord constraint lack of liquor Chemicals, drugs, radiation etc (see later lecture notes) Antenatal Diagnosis Methods available ultrasound amniocentesis chorionic villous sampling cordocentesis Antenatal Diagnosis SCREENING ? DIAGNOSIS Antenatal Diagnosis Diagnostic tests ultrasound amniocentesis CVS cordocentesis Screening tests ultrasound nuchal translucency (NT) maternal serum 2nd trimester 1st trimester ? fetal cells in maternal circulation (in the future) Antenatal Diagnosis Diagnostic tests - amniocentesis performed between 15-20 weeks’ 22G needle passed into amniotic sac ?20 mls of fluid obtained karyotype Alpha-fetoprotein (AFP) level (rarely other biochemical tests) PCR and FISH for rapid cytogenetic result Risk of miscarriage: ? ?% Result: 2 weeks Antenatal Diagnosis Diagnostic tests - CVS Performed between 10+ and 12 week