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CVS
Chronic villus sampling (CVS) is another procedure
that can be used to detect genetic disorders in a fetus. This can
be done in place of amniocentesis. Like amniocentesis, it tests
for chromosomal abnormalities in your baby. Unlike amniocentesis,
it cannot test for other abnormalities such as neural tube defects.
A perinatologist usually performs CVS in the first trimester, around
10 to 12 week gestation. Prior to the procedure, an ultrasound is
done to confirm gestational age and fetal viability (a live baby),
as well as to check the location of the placenta. The procedure
involves inserting a thin plastic catheter with a metal insert through
your cervix or through the abdomen into the placenta, after the
area has been cleaned with an antiseptic iodine solution. If the
procedure is done through the cervix, a speculum is placed in the
vagina (similar to performing a Pap smear) to expose the cervix.
Small fragments of the placental tissue are then obtained through
the catheter via suctioning from an attached syringe. The catheter
is then removed, and the tissue fragments are isolated and sent
to the cytogenetics laboratory. The entire procedure is done under
continuous ultrasound monitoring to help guide the catheter correctly.
Complications of CVS include, but not limited to: hemorrhage, uterine
perforation, rupture of the amniotic membranes, premature labor,
and miscarriage. In addition, the possibility that the procedure
could produce a birth defect cannot be totally excluded, although
this risk appears to be very negligible. In experienced hands, the
rate of complications with CVS and amniocentesis are equal.
The main advantage of CVS over amniocentesis is the fact that it
is done early in pregnancy and therefore, if termination of pregnancy
is desired for an abnormal finding, it is much safer than if done
in the mid second trimester.
The main disadvantage of CVS is that it cannot check for neural
tube or abdominal wall defects. Therefore, a maternal serum AFP
(alpha-fetal protein) screening and/or a Level II ultrasound are
recommended in the second trimester
| AGE-SPECIFIC RISKS FOR CYTOGENETIC
DISORDERS |
| MATERNAL AGE |
RISK OF DOWN'S SYNDROME |
RISK FOR ALL CHROMOSOMAL ANOMALIES |
| 20 |
1 in 1923 |
1 in 526 |
| 25 |
1 in 1205 |
1 in 476 |
| 30 |
1 in 885 |
1 in 384 |
| 35 |
1 in 365 |
1 in 178 |
| 40 |
1 in 109 |
1 in 63 |
| 45 |
1 in 32 |
1 in 18 |
| 49 |
1 in 12 |
1 in 7 |
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