Genetic screening in pregnancy
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Genetic screening helps determine any genetic issues in the baby that need attention during or after your pregnancy. To determine a person’s genetic risk for any disease or genetic characteristic, screening genetic tests are often performed on asymptomatic individuals (pregnant women). An additional diagnostic test will be performed to confirm the genetic condition if screening reveals any abnormalities. Reports from genetic tests are straightforward to grasp, but they can be challenging to analyze or draw conclusions from, which is where the genetic counselor/fetal medicine specialist a specialist-trained professional comes in.
If you are looking for a reliable and trustworthy place for genetic counseling and screening for genetic abnormalities or invasive testing, then look no further than Kamakshi Fetal Medicine and Imaging Centre. We offer high-quality services at affordable prices. Contact us today to book an appointment.
Types of genetic testing
There are two classifications of prenatal genetic testing. The two vary primarily in that one kind evaluates the likelihood of problems while the other gathers more specific, conclusive data for diagnosis.
Screening
Screening tests are generally noninvasive — for example, blood tests or ultrasound — and provide results that may indicate a baby has the potential /probability for certain genetic abnormalities. These tests do not offer a diagnosis or a diagnosis confirmation.
diagnostic tests
Diagnostic tests are generally invasive — for example, collecting pieces of the placenta (CVS) / fluid around the fetus (Amniocentesis) / Fetal blood (cordocentesis) — and can provide definitive results about health issues or birth defects. Diagnostic tests are frequently offered to women over age 35, those with a history of a previous baby with genetic defects, or those with a family history of genetic abnormalities or when the screening test is high risk.
Genetic screening and counseling
Genetic counseling should be the first step in any testing for a genetic condition, the common genetic abnormalities screened in pregnancy are Downs syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Pataus syndrome (Trisomy 13), and Sex chromosomal abnormalities. Along with several physical issues, Down syndrome impairs mental and social development for the rest of one’s life. Trisomy 18 and 13, result in more serious delays and frequently result in infant death. Routine prenatal tests will be provided to expectant mothers for a variety of reasons and at various stages of the pregnancy.
Kamakshi Fetal Medicine and Imaging Centre is one of the leading diagnostics centers in India and the first fetal medicine center in Kanchipuram that offers a wide range of services like genetic counseling, combined test, Quadruple test, NIPT, and Invasive diagnostic tests. Here, we provide you with a short overview of our services so that you can make an informed decision.
The Combined Test / First Trimester Screen
First Trimester Screen is also known as the combined test because it combines an ultrasound scan with a blood test. The blood test can perform at the same time as the NT scan / First-trimester scan. A blood sample will collect from you if you decide to take the test. At the scan, the fluid at the back of the baby’s neck can measure to determine the “nuchal translucency”. Your age and the information from these 2 tests will use to work out the chance of the baby having Down’s syndrome, Edward’s syndrome, or Patau’s syndrome.
When should I take the test?
A screening test for Down’s syndrome, Edward’s syndrome, and Patau’s syndrome is available between weeks 11 and 14 weeks of pregnancy.
What does it infer?
Your doctor can estimate your chance /probability of having a baby with trisomy 18,13 or Down syndrome based on your age, the findings of the blood test, and the ultrasound. If the test result is positive, or high risk it needs further testing (invasive test) to confirm the fetal abnormality.
Turnaround time
- The test result will obtain in 5-7 days.
- The sensitivity of the test is 90-95%
Quadruple test
A quadruple marker test in pregnancy is a blood test that looks for four specific biochemical markers in blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), Inhibin A, and estriol.
When is the quadruple test taking?
This test normally performs between the 16th and 20+6 days of pregnancy.
Does everyone get a quad screen?
Between 14 and 20 weeks of pregnancy, you may provide a test called the quadruple blood screening test if a nuchal translucency measurement could not take or if you are more than 14 weeks pregnant. Compared to the combined test, this is a less accurate, and sole test for Down’s syndrome.
What does it infer?
It helps check if your baby has certain chromosomal abnormalities mainly Downs syndrome and open neural tube defects (ONTDs).
How is a quadruple test done?
During the quad screen, a medical team member collects a blood sample by inserting a needle into a vein in the patient’s arm. An examination of the blood sample will be done in a lab. A sample of the mother’s blood will be collected and sent to a laboratory for analysis. Normally, the test results are ready within a few days. If the results of the marker test are abnormal, the doctor will recommend further testing to determine if the baby has a chromosomal abnormality.
How long do quad test results take?
- The result is available about 1 to 2 weeks after the mother’s blood collects.
- The sensitivity of the test is 75-80%
NIPT
The non-invasive prenatal test, or NIPT, is a new, highly sensitive test that screens for Down syndrome and specific other abnormalities in a baby that is done from the first trimester of pregnancy. During pregnancy, part of the baby’s DNA enters the mother’s bloodstream. The non-invasive prenatal test (NIPT) analyses the genetic information contained in this DNA to screen for several chromosomal abnormalities (Trisomy 13,18,21 (Down syndrome), sex chromosomal abnormalities).
What is the advantage of the NIPT test?
The NIPT is highly sensitive and picks up more than 99% of cases of Down syndrome. However, it is still only a screening test, not a diagnostic one. This means that it can only tell you if you have a higher chance of having a kid with an abnormality, rather than providing a conclusive answer. The only way of knowing for sure whether your baby has Down syndrome is to have a diagnostic test such as chorionic villus sampling (CVS) or amniocentesis if the test result is positive/high risk.
When can the NIPT test be done?
The NIPT test will perform from as early as the 10 weeks of pregnancy.
Turnaround time
10 days for the result
Genetic Screening for Twins
The same screening test in singleton pregnancy can apply to twin pregnancy too. Commonly offered tests are the Combined test and NIPT.
Torch Screening
Torch screening is a blood test that screens for certain infections that can be harmful to a developing baby, including cytomegalovirus (CMV), toxoplasmosis, herpes simplex virus (HSV), and syphilis, Rubella. The test performs when ultrasound features or history is suggestive of fetal infection.
Genetic Counseling
Genetic counseling provides information and support to individuals or families who have or may be at risk of, inherited conditions. It aims to help people understand and come to terms with their diagnosis, make informed decisions about managing their condition, and plan. We work with specialists in this field to provide you with the finest care possible. They bring years of expertise and provide evidence-based care. The doctor will provide comprehensive guidance throughout the consultation for every treatment. A genetic counselor will consult with a patient or member of the patient’s family to better understand the clinical genetics of a medical problem. It entails interpreting medical and family history and educating patients and their families about illness risk, treatment, and prevention. The approach that prioritizes patient-centered decision-making encourages assisting people in adjusting to genetic risk and illness.
The Department of Genetics at Kamakshi Hospitals focuses on genetic assessments, diagnoses, and therapy. Experts in clinical biomedical genetics, clinical genetics, genomics and laboratory genetics, and pharmacogenetics, all of which are highly specialized medical specialties, make up the department’s multidisciplinary team of professionals.
Genetic tests
Kamakshi Fetal Medicine and Imaging Services offer a variety of genetic tests to help expectant parents identify potential problems with their baby before it is born. This can help families make decisions about their pregnancy and prepare for the birth of their child.
Preconceptional counseling
Beginning long before you become pregnant, you can have a safe, healthy, and joyful pregnancy. Preconception counseling at Kamakshi Hospitals may help you talk about and prepare for a safe pregnancy in a variety of ways. All women who intend to get pregnant should visit the hospital. Still, it is especially crucial for those who already have pre-existing conditions like diabetes, hypertension, thyroid disorders, heart disease, autoimmune conditions, epilepsy, recurrent miscarriage, and prior babies with developmental or chromosomal abnormalities to make use of these services. By providing you with contraceptive options, the preconception appointment also assists you in preventing unintended pregnancy and planning for a healthy pregnancy.
Invasive procedures
Invasive diagnostic procedures for examining fetal chromosomes include amniocentesis and chorionic villus sampling (CVS). They are most used to diagnose chromosomal abnormalities such as Down Syndrome, Trisomy 13,18, and fetal infection but they can also use to detect some inherited genetic disorders in high-risk families.
Preparation
On the day of your session, you must bring your referral and blood group card, if you have one. However, if you have a Rhesus-negative blood group, you will need an anti-D injection following the treatment. This will be given like a normal injection in your muscle. You require this injection to prevent the production of antibodies against Rhesus-positive cells.
How?
Under ultrasound guidance
Day care procedure
Most women find the treatment to be extremely stressful emotionally.
The pain of amniocentesis is equivalent to that of a blood test. The discomfort of a CVS is caused mainly by the local anesthetic, which may sting when it injects.
No need to fast during the day of the procedure
To empty the bladder before the procedure
Women undergoing the procedure will observe for complications
Abdominal pain/bleeding per vaginum) for 3 -4 hours after the procedure
Medicines will prescribe for a week
Rest advised for 2-3 days
Material obtained through invasive testing will send to the laboratory for chromosomal assessment
The result will take 3-4 weeks (for complete karyotype); 5-7 days (QF-PCR, FISH, Microarray, Infection screen).
Chorionic Villous Sampling
A CVS is an ultrasound-guided procedure in which a small sample of chorionic villi will be taken from the placenta. Chorionic villi are small thread-like projections that make up part of the early placenta. Chorionic villi cells usually always have the same chromosomes as the fetus.
When is the CVS test will perform?
A CVS will preferably perform between 11 and 14 weeks.
How is the CVS test done?
Before the CVS, an ultrasound will do to assess the fetal viability and the placental location. The skin cleans with an antiseptic solution and sterile precautions maintain. Under ultrasound guidance, a local anesthetic will be injected into the skin and the surface of the uterus. The hardest part of the test is this. Subsequently, a needle inserts through the skin of the abdomen and the uterus, into the placenta. This needle stays in place for the whole test, which typically lasts 1-2 minutes. This is usually not painful. A second, finer needle passes through the first needle and uses to draw up chorionic villi. Because the first needle remains in place and uses as a guide, a second or third aspiration can perform without any further trauma to the uterus. After the CVS, the doctor will recheck the fetal movements and heartbeat with an ultrasound.
What are the complications?
Although a CVS is a relatively safe procedure, it remains invasive and has a risk of miscarriage associated with it. About one out of every 100 to 200 women screened had a miscarriage following CVS. If the operation results in a miscarriage, it often happens within two to three weeks. Occasionally transient bleeding occurs after CVS.
Red flag signs?
A little bit of cramping is normal after the procedure but if severe cramping, bleeding, or fluid loss occurs, the doctor who performs the procedure needs to be contacted and will organize an ultrasound to check the pregnancy.
Amniocentesis
An Amniocentesis is an ultrasound-guided procedure in which a small sample of the amniotic fluid is taken from the amniotic sac. The amniotic sac is the fluid-filled sac that surrounds the fetus during pregnancy. Amniotic fluid contains cells from the fetus that have sheds from the skin, lungs, and bladder.
When is the amniocentesis performed?
An amniocentesis performs from 16 weeks gestation onwards. Before the amniocentesis, an ultrasound examination will be performed to confirm the fetus’s viability and assess the placental position, liquor volume, and cervical length.
How is the amniocentesis done?
The skin is cleansed with an antiseptic solution and sterile precautions are maintained. Under constant ultrasound guidance, a fine needle is inserted through the skin of the abdomen and the uterus, into the amniotic sac. It takes approximately 2-3 minutes to withdraw 15-20 milliliters of amniotic fluid. The fetus quickly replaces this fluid. The test is not very painful. Most women find discomfort like that of a blood test. The doctor will use an ultrasound to monitor the baby’s movements and heartbeat one more following the amniocentesis.
What are the complications?
Although amniocentesis is a relatively safe procedure, it remains invasive and has a risk of miscarriage associated with it. One in 200 to 400 women who have an amniocentesis experience miscarriage. If the operation results in a miscarriage, it generally happens within two weeks. After amniocentesis, amniotic fluid occasionally leaks momentarily.
Red flag signs?
A little bit of cramping is normal after the procedure but if severe cramping, bleeding, or fluid loss occurs, the doctor who performs the procedure needs to be contacted and will organize an ultrasound to check the pregnancy.
Fetal Reduction
Fetal reduction, also known as “selected embryo reduction,” is a method used to decrease high-order multiple pregnancies (three or more fetuses present in the womb at the same time) to twin or singleton pregnancies. It is a process in which one or more fetuses are absorbed to benefit the development of the other fetuses.
Why the fetal reduction?
The chances of preterm (early) birth rise as the number of fetuses does. Embryo reduction significantly lengthens the gestational period and lowers the likelihood of premature birth, both of which enhance the baby’s birth weight, lower neonatal mortality, and shorten the length of stay in neonatal critical care. The advantages of embryo reduction exceed its risks by a wide margin.
When is fetal reduction performed?
We prefer to do it at around 12 weeks after the first-trimester screening so that structural abnormality in the babies can be ruled out. Additionally, between 8 and 20 percent of multiple pregnancies may stop growing on their own before the end of the first trimester.
How is fetal reduction done?
Embryo reduction is performed by passing a needle through the mother’s tummy under local anesthesia and injecting medicine into the fetus to be reduced. It is performed under continuous ultrasound guidance. Either the most accessible baby is chosen for reduction or a baby with a structural abnormality if any is chosen (selective reduction).
What are the complications?
A 7% probability exists that the mother would miscarry the entire pregnancy before 20 weeks. The original number of fetuses, the route of the needle, and the number terminated may influence the likelihood and the rate of pregnancy loss.
Fetal Infection Evaluation
Fetal infection evaluation is a test that performs to determine if the fetus has acquired an infection. The procedure involves taking a sample of the amniotic fluid and testing it for infection. Fetal infection evaluation can be performed as early as 16 weeks into pregnancy/ 6 weeks after the history of maternal infection.
Amnioreduction
Amnioreduction is a procedure that is sometimes performed when there is too much amniotic fluid in the uterus (a condition called polyhydramnios).
Why the amino reduction?
The reasoning behind it is that bringing fluid levels back to normal eases the mother’s pain, discomfort and enhances uteroplacental perfusion (particularly when TTTS is suspected), and lengthens pregnancy.
Whom?
Polyhydramnios – severe cases causing maternal discomfort (TTTS)
What are the complications?
The procedure has a complication rate in terms of spontaneous premature rupture of membranes, abruption placenta, or chorioamnionitis.