Chorionic villus sampling (CVS), sometimes called "chorionic ''villous'' sampling" (as "villous" is the adjectival form of the word "villus"), is a form of

prenatal diagnosis Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health ...

done to determine

chromosomal A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...

genetic disorders A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

in the

fetus A fetus or foetus (; plural fetuses, feti, foetuses, or foeti) is the unborn offspring that develops from an animal embryo. Following embryonic development the fetal stage of development takes place. In human prenatal development, fetal develo ...

. It entails sampling of the chorionic villus (

placenta The placenta is a temporary embryonic and later fetal organ that begins developing from the blastocyst shortly after implantation. It plays critical roles in facilitating nutrient, gas and waste exchange between the physically separate mater ...

l tissue) and testing it for chromosomal abnormalities, usually with

FISH Fish are aquatic, craniate, gill-bearing animals that lack limbs with digits. Included in this definition are the living hagfish, lampreys, and cartilaginous and bony fish as well as various extinct related groups. Approximately 95% of li ...

PCR PCR or pcr may refer to: Science * Phosphocreatine, a phosphorylated creatine molecule * Principal component regression, a statistical technique Medicine * Polymerase chain reaction ** COVID-19 testing, often performed using the polymerase chain r ...

. CVS usually takes place at 10–12 weeks' gestation, earlier than

amniocentesis Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is ne ...

percutaneous umbilical cord blood sampling Percutaneous umbilical cord blood sampling (PUBS), also called cordocentesis, fetal blood sampling, or umbilical vein sampling is a diagnostic genetic test that examines blood from the fetal umbilical cord to detect fetal abnormalities. Fetal and m ...

. It is the preferred technique before 15 weeks. CVS was performed for the first time in

Milan Milan ( , , Lombard: ; it, Milano ) is a city in northern Italy, capital of Lombardy, and the second-most populous city proper in Italy after Rome. The city proper has a population of about 1.4 million, while its metropolitan city has ...

by Italian biologist Giuseppe Simoni, scientific director of Biocell Center, in 1983. Use as early as eight weeks in special circumstances has been described. It can be performed in a transcervical or transabdominal manner. Although this procedure is mostly associated with testing for

Down syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual di ...

, overall, CVS can detect more than 200 disorders.

Indications

Possible reasons for having a CVS can include: *Abnormal first trimester screen results *Increased nuchal translucency or other abnormal

ultrasound Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies ...

findings *Family history of a chromosomal abnormality or other

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

*Parents are known carriers for a

* Advanced maternal age (maternal age above 35). AMA is associated with increase risk of

Down's syndrome Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual dis ...

and at age 35, risk is 1:400. Screening tests are usually carried out first before deciding if CVS should be done.

Risks

The risk of miscarriage in CVS is estimated to be potentially as high as 1–2%. However some recent research has suggested that only a very small number of miscarriages that occur after CVS are a direct result of the procedure. Apart from a risk of miscarriage, there is a risk of infection and

amniotic fluid The amniotic fluid is the protective liquid contained by the amniotic sac of a gravid amniote. This fluid serves as a cushion for the growing fetus, but also serves to facilitate the exchange of nutrients, water, and biochemical products betwee ...

leakage. The resulting amniotic fluid leak can develop into a condition known as

oligohydramnios Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. It is typically diagnosed by ultrasound when the amniotic fluid index (A ...

, which is low amniotic fluid level. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs). Additionally, there is also mild risk of limb reduction defects associated with CVS, with the risk being higher the earlier the procedure is carried. It is important after having CVS that the

obstetrician Obstetrics is the field of study concentrated on pregnancy, childbirth and the postpartum period. As a medical specialty, obstetrics is combined with gynecology under the discipline known as obstetrics and gynecology (OB/GYN), which is a surgi ...

follows the patient closely to ensure the patient does not develop infection.

Chorionic villi and stem cells

Recent studies have discovered that chorionic villi can be a rich source of fetal stem cells, multipotent

mesenchymal stem cells Mesenchymal stem cells (MSCs) also known as mesenchymal stromal cells or medicinal signaling cells are multipotent stromal cells that can differentiate into a variety of cell types, including osteoblasts (bone cells), chondrocytes (cartilage ce ...

. A potential benefit of using fetal stem cells over those obtained from embryos is that they side-step ethical concerns among anti-abortion activists by obtaining pluripotent lines of undifferentiated cells without harm to a fetus or destruction of an embryo. These stem cells would also, if used to treat the same individual they came from, sidestep the donor/recipient issue which has so far stymied all attempts to use donor-derived stem cells in therapies. Artificial heart valves, working tracheas, as well as muscle, fat, bone, heart, neural and liver cells have all been engineered through use of fetal stem cells. The first fetal stem cells bank in US is active in Boston, Massachusetts.

Limitations

A small percentage (1-2%) of pregnancies have confined placental mosaicism, where some but not all of the

l cells tested in the CVS are abnormal, even though the pregnancy is unaffected. Cells from the mother can be mixed with the

l cells obtained from the CVS procedure. Occasionally if these maternal cells are not completely separated from the

l sample, this can lead to discrepancies with the results. This phenomenon is called Maternal Cell Contamination (MCC). CVS cannot detect all birth defects. It is used for testing

chromosomal abnormalities A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder, is a missing, extra, or irregular portion of chromosomal DNA. These can occur in the form of numerical abnormalities, where ther ...

or other specific

only if there is family history or other reason to test.

References

External links

Chorionic Villus Sampling - March of Dimes
*
Cleveland Clinic

CVS Test: Six Months of Worry Free Pregnancy

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