Chorionic Villus Sampling

The diagnostic procedure of taking out a sample tissue (Choroinic Villi) from the placenta to detect congenital abnormalities in a fetus is known as Chorionic Villus Sampling (CVS). With the guidance of ultrasound, the position of placenta is first determined. There are two methods - trans-cervical and trans-abdominal to perform this test. The position of the placenta helps the physician choose a suitable method. For trans-cervical CVS, parameters like the position of the uterus, the size of the gestational sac and the position of the placenta inside the uterus are first determined using abdominal ultrasound. Using a good antiseptic, the vulva, vagina and the cervix are cleansed. The abdomen is also cleansed for trans-abdominal procedure.

Trans cervical procedure: A thin plastic tube is inserted through the vagina and cervix for the trans-cervical procedure to reach the placenta. A tiny sample of chorionic villus tissue is taken out after locating the exact position of the placenta.

Trans-abdominal procedure: This procedure is similar to the earlier one, but a needle is inserted through the abdomen in this test to reach the uterus and then to the placenta. The chorionic villus sample tissue is drawn into the syringe, while the needle is guided by ultrasound.

This sample is then taken to the laboratory for evaluation. This procedure can be conducted even earlier than amniocentesis to detect any congenital defects present in the fetus. It is done at around 10 to 12 weeks after the last menstruation. Study of the DNA, chromosomes and enzymes of the fetus can be conducted using the sample taken out during the test. Results are available within a week or two. If there are any abnormalities found in the fetus, it is easy to conduct a therapeutic abortion, in case it is necessary. Pregnant women over the age of 35 who are at risk for giving birth to a baby with Downs Syndrome or those who have had birth defects in an earlier pregnancy are advised this test. For detecting neural tube defects and the Rh-incompatibility, amniocentesis is a better option. Hemoglobinopathies and Tay-Sachs disease can be detected through Chorionic Villus Sampling.

The risk involved in using CVS is slightly higher when compared to amniocentesis. Some complications like rupture of the amniotic membrane, miscarriage, infection, bleeding, Rh-incompatibility in the mother if she is Rh-negative and contamination of the sample with maternal cells can occur. When CVS is performed after 10 weeks of gestational period, there is a risk for limb defects in the fetus. If the mother's blood is Rh-negative, she has to receive Rho GAM to avoid Rh incompatibility. After the CVS, it is advised to have an ultrasound done after about two or four days to ensure the fetus is fine.

Genetic testing

Genetic testing is a method of genetic diagnosis to check for the susceptibility to hereditary diseases and can also be used to establish the ancestry of any person. Genetic testing studies the chromosome, breaking it to individual genes. In a broader sense, it can be used as a biochemical test for scrutinizing the existence and nonexistence of main proteins that hint abnormalities of certain genes. Genetic testing studies the abnormality in the chromosomes, genes or proteins. It can be used to find out whether a particular genetic condition is developing and it's chances of being passed over to the future generations.

The most widely used type of genetic testing is newborn screening. Genetic testing during pregnancies is called as prenatal genetic testing and is performed during pregnancy to screen or identify birth defects. This provides ample information on the developing fetus both for the parents and the physician. Amniocentesis and chorionic villus sampling is the common diagnostic test performed to diagnose any defect in the fetus. These diagnostic tests are ordered for if the triple test (AFP test, hCG blood test, and UE3) returns abnormal results.

Fetal Surgery

Fetal surgery refers to the surgical treatment of the developing baby in the womb to rectify congenital defects. Surgery of the fetus is performed to fix the prenatally diagnosed anomalies. However fetal surgery is a complicated procedure and comes with lot of risks to both mother and the baby. Yet, doctors recommend fetal surgery, if the risks associated with continuing the pregnancy, without surgical intervention, outweighs the risks that come with fetal surgery. Certain abnormalities, if left to progress in the womb, may turn fatal and infant may die soon after the birth. However fetal intervention is initiated only after taking the safety of the mother into consideration. The common risks that are associated with fetal surgery are premature delivery, infection of the uterus, leaking of amniotic fluid through the membrane, potential infertility and the risk of anesthesia.

There are various techniques followed to diagnose fetal anomalies. The diagnostic method can be non invasive such as ultrasound, fetal echocardiography, MRI, Radiography, Measuring MSAFP (maternal serum alpha-fetoprotein) and Measuring maternal serum beta-human chorionic gonadotropin (HCG) or invasive procedure such as amniocentesis, Chorionic villus sampling and Percutaneous umbilical blood sampling (PUBS) are used to detect the birth defects.

Types of Fetal Surgery

Depending on the incision level, fetal surgery is classified into three types.

Open Fetal Surgery

Open fetal surgery is almost similar to cesarean section and involves a total opening of the uterus. In this type of surgery, a long incision is made in the mother's abdomen and then on the uterus to reach the fetes. Once the surgical correction is performed on the fetus to treat the birth defect, the uterus and abdominal is closed back leaving the fetus intact. Open fetal surgery is performed under general anesthesia. Surgery is performed using special instruments containing staples to prevent bleeding from uterus. During the operation, warm saline water is infused to maintain the position of placenta and umbilical cord and surgeon will keep a vigil on the pulse and heart rate of the baby with the help of the oximeter. After the surgery, the mother is hospitalized for close to a week to facilitate close monitoring. One should remember that, with open fetal surgery, mother will forgo the option of vaginal delivery for the present and future deliveries. She can deliver the baby only through C-section. She may be given some medication to avoid pre term labor. Open fetal surgery is followed for the conditions like chest mass, neck mass, spinbifida, myelomeningocele and Sacrococcygeal teratoma (SCT) (a tumor at the base of the child's tail bone).

There is one more variation to the open fetal surgery called the EXIT (Ex Utero Intrapartum Treatment) Procedure. EXIT surgery is performed at the end of the full term and just before the delivery. In this method the baby is partially delivered by bringing out only a part of the fetes from uterus and keeping rest of the fetes attached to placenta and umbilical cord to allow blood circulation. Once the defect is rectified, the baby is delivered fully. Exit procedure is essentially followed to correct the airway blockage in the baby.

Fetoscopic surgery

Fetoscopic surgery is minimally invasive and unlike open fetal surgery, fetes remains inside the uterus while operating. Surgeon uses special instruments such as laser and makes a small incision with the help of the fetoscope to correct the birth defects. Fetoscopic surgery has shown high success rate in conditions such as Twin-Twin Transfusion Syndrome (TTTS), Twin Reversed Arterial Perfusion (TRAP), Amniotic band syndrome, and Tracheal occlusion for CDH. Fetoscopic surgery does not pose a risk of pre term labor and also eliminates most of the risks associated with open fetal surgery. This is essentially why fetoscopic surgery is the preferred choice, yet one should note that few complicated birth defects can be corrected only through open fetal surgery.

Fetal image guided surgery

Fetal image guided surgery is the least invasive of all wherein surgery is performed with the guidance of images of fetus produced on the external screen by ultrasound. Very thin instruments are inserted through a small opening in the abdomen and the correction is made without any endoscopic view and the whole procedure is guided by the sonogram images.

Various congenital conditions treated through fetal intervention

Congenital diaphragmatic hernia (CDH): Congenital diaphragmatic hernia (CDH) refers to the opening in the diaphragm through which the contents of the abdomen enter the chest cavity leaving no space for the lungs to develop properly. This is a serious condition and may lead to respiratory failure after birth. This condition, depending upon its severity, is treated through fetal intervention.

Spina bifida: Spina bifida refers to a condition wherein spinal column of the baby does not close properly around the spinal cord and the nerves start to protrude through the opening. Spina bifida can range from mild to severe form, and the severe cases lead to serious neurological problems after the birth. Only the severe form of spina bifida like Meningocele and Myelomeningocele call for fetal intervention through open fetal surgery.

Neck masses: Neck masses are the tumors of the neck that may obstruct the airway and esophagus of the child and also increase the level of amniotic fluid surrounding the baby. Typically, tumors of any kind are treated after birth. In rare cases they grow very large and may even cause heart failure. In such cases fetal intervention becomes necessary to remove the tumors.

Lung lesions: Lung lesions refer to the abnormal growth of lung tissue and these lesions can be cystic (fluid filled) or solid. There are various types of lung lesions and treatment depends upon their size and location. During pregnancy, continuous monitoring is necessary to keep vigil on the size of the lesion. Most often lung lesions shrink and make way for normal development. Lesions of smaller and moderate size are best treated after delivery. But if the size of the lung tumor is abnormally huge and poses a risk of hydrops (excess accumulation of fluid in the fetus) fetal intervention is initiated. Cystic lesions are normally removed through needle aspiration under the constant guidance of ultrasound images, but solid lesions require more elaborate procedure such as EXIT.

Congenital heart diseases: Not all congenital heart defects call for fetal intervention. Sometimes the septum (wall separating the right and left side of the heart) of the heart develops a hole while in the womb. However septum defects are typically treated after the birth of the child and rarely require fetal surgery. But if the heart develops severe obstructive cardiac disorders such as aortic stenosis, pulmonary stenosis and coarctation of the aorta,a fetal image-guided procedure may be necessary to open or enlarge the narrowed valve. This procedure involves placing a balloon catheter by inserting it through the uterus and into the fetal’s heart.

Amniotic Band Syndrome: This is a condition where fetus is entrapped in fibrous amniotic bands in the womb, restricting blood flow to the affected portion of the fetes. It normally affects legs, arms, toes and fingers. In utero surgery may be performed to rectify the condition if there is risk of amputation of the limb after the birth.

Twin-to-twin transfusion syndrome (TTTS): TTTS is a condition that occurs in identical twins wherein unbalanced exchange of blood takes place between the twins. One receives higher amount of blood whereas the other receives less amount. The fetus with less blood supply may become anemic and the one with excess blood supply may suffer heart failure due to excess fluid. Fetal surgery through laser fetal intervention is the preferred option to correct the condition. This procedure involves inserting a laser along with small telescope into the uterus and separating the blood vessels on the placenta that are connected to both twins.

Congenital high airway obstruction syndrome (CHAOS): Congenital high airway obstruction syndrome (CHAOS) refers to the blocking of fetal airway resulting in enlarged lungs, windpipe and bronchial tube. A complete or near to complete blockage may lead to a heart failure. Though congenital high airway obstruction syndrome (CHAOS) is treated after birth, in severe cases where fetes is at high risk such as hydrops, fetal surgery is performed.