Diagnostic Testing

-What: Chorionic Villus Sampling, which examines the placenta to examine the fetus for genetic abnormalities.

-When: 10-13 weeks

-Why: This procedure is optional, and a mother or doctor with higher concerns who are more likely to develop. Gestational pregnancy, family history of chromosomal disorders, an ultrasound which showed concern, family wants more information early on in pregnancy.

-Procedure: Ultrasound is used to determine baby locations, the abdomen is sanitized, there is local anastetic or numbing on the site, a thin needle inserts through the abdomen to reach outer edge of the placenta, and a smaller needle threads through larger needle to retrieve a small piece of the placenta. Baby and placenta are checked during the entire procedure. Also, another form of the procedure is a Vaginal CVS which uses two needles to retreave placenta through the vagina which is slightly higher risk.

-What can be learned: Checks for downsyndrome and Edwards syndrome.

-Why is it carried out: For patients looking for more information and who are predisposed to having a child with Down syndrome.

Key Information- Procedure is invasive and has risks involved. While chances are low there is a chance of an amniotic rupture and miscarriage. Complications/ After : cramps and lightheadness.

-What: Amniotic fluid is removed for genetic testing to test the cells for genetic disorders.

-When: 14-20 weeks

-Why: The paitent has concerns with Down syndrome and spina bifida or if regular testing or ultrasound shows signs of concern. Or family history concerns.

-Procedure: Ultrasound during the procedure, clean abdomen, thin needle inserted in uterus to pull amniotic fluid through the syringe that enters through the thin needle. Possible cramping or pelvic pain.

-What can be learned: Can confirm or deny the diagnosis of Down syndrome.

-Why is it carried out: It is less risky then CVS.