CASE #887766S – The J. Smith Family

The J. Smith Family James and Judy Smith Expecting third child Judy is in her forties Pregnancy considered high risk Means Judy will get the care she needs to ensure her and her unborn baby stay as well as possible. Doctor suggested genetic testing and screening to monitor pregnancy and identify potential complications

Complications Judy’s twice as likely to experience: Gestational diabetes - too much sugar (glucose) in your blood during pregnancy.  Pre-eclampsia - high blood pressure Placenta praevia – low lying placenta Placenta abruption - placenta comes away from the uterus wall Birth experience may be harder as well. She is more likely to have: C-section Baby presenting in awkward position at birth Baby born with low birth weight Baby born early

Tests Odds of having chromosomal problems jump as you get older 1 in 200 babies born to women aged 40 or over have Down Syndrome. Compares with 1 in 1500 babies born to women aged 20 to 24 Screening tests offered for genetic conditions like Down’s. Age is factored in to the result to determine whether baby has any problems Diagnostic tests such as amniocentesis and chorionic villus sampling are suggested

Tests Amniocentesis Chorionic Villus Sampling Small sample of amniotic fluid containing baby’s cells taken from uterus and examined Used to confirm genetic conditions (Down’s) or inherited blood conditions (SCD) and neural tube defects Done between week 15 and 20 of pregnancy 6% risk of miscarriage Chorionic Villus Sampling a sample of chorionic villi is removed from the placenta for testing. The sample can be taken through the cervix (transcervical) or the abdominal wall (transabdominal). Used to detect chromosomal condition like Down’s but also single gene disorders such as Tay-sachs and cystic fibrosis Done between 10 and 13 weeks 7% risk of miscarriage