CHORIONIC VILLUS SAMPLING (CVS)

Chorionic Villus Sampling is an important prenatal diagnostic exam: under the constant guidance of the ultrasound scan, a 18-20 Gauge needle is inserted through the abdomen, and reaches the trophoblast where it extracts a small sample of chorionic villi which is then sent for a scheduled analysis.

The procedure can be performed after the completed 10th week of pregnancy, in an outpatient facility without the need of anaesthesia.

Reporting times are 7 days for a preliminary result (direct method); for the conclusive result, it takes about 20 days (culturing method).

The objectives of Chorionic Villus Sampling, as per indications, can be summarized as follows:

FOETAL KARYOTYPE:

• Mother’s age = 35-years-old or older
• previous foetal aneuploidy.
• chromosomal rearrangements in the parents.
• family history of aneuploidy.
• A “positive” first trimester screening.
• foetal malformations detected during ultrasound examination.
• sex diagnosis for diseases linked to chromosome X.
  
  

ANALYSIS OF THE FOETAL DNA:

• genetic diseases
• inborn errors of metabolism
• research of biological paternity.
  
  

BIOCHEMICAL TESTS:

• inborn errors of metabolism (that do show any known mutations/of which mutations are unknown)
• previous multiple miscarriages.
• Previous intrauterine foetal death.