Screening Pregnancy Diseases

Screening Pregnancy Diseases 

If you’re pregnant or planning to get pregnant, there are common tests that can give you a closer look into yours and your baby’s health. These tests can check babies for any underlying medical conditions while they are in the womb itself. Some of these tests can also help to check the DNA for any genetic diseases. DNA tests can be done before pregnancy by looking at the mother’s and the father’s genes to know if the baby has any chance of a genetic disorder. 

Even though most of these tests are optional, they can help to make important health decisions and prepare you better for when the baby arrives. The common pregnancy tests include: 

  • Genetic Screening: This can help in diagnosing any potential genetic disorders before birth. The doctor may recommend getting genetic screening during pregnancy if you or your partner has a history of genetic disorders in the family. Some of the genetic disorders that can be diagnosed before the birth of the baby include cystic fibrosis, hemophilia A, polycystic kidney disease, sickle cell disease, thalassemia, to name a few. 

The methods used for genetic screening are:

AFP test or Alpha-fetoprotein test

Cell-free fetal DNA testing

Ultrasound scan


Chorionic villus sampling

Percutaneous Umbilical Blood Sampling

  • Prenatal Screening Tests- First Trimester: This is a combination of fetal ultrasound and maternal blood testing.

Ultrasound for fetal nuchal translucency: This is done to examine the area at the back of the fetal neck for increased fluid or thickening.

Ultrasound for fetal nasal bone determination: In some babies with certain chromosomal abnormalities, the nasal bone may not be visualized. Between the 11 and 13 gestations, a screen test is performed using ultrasound. 

Maternal Serum Test: This is a blood test done to measure pregnancy-associated plasma protein-A and human chorionic gonadotropin found in the blood of pregnant women. The former is a protein produced by the placenta in early pregnancy. Abnormal levels of this can be associated with a chromosomal abnormality. The latter is a hormone produced by the placenta in early pregnancy. Abnormal levels of this too can be associated with a chromosomal abnormality. 

These tests help to determine any birth defects such as trisomy 21 (down syndrome) and trisomy 18. If the results of the test are abnormal, genetic counseling should be considered. Additional tests may need to be done for accurate analysis. 

  • Prenatal Screening Tests- Second Trimester: These tests include several blood tests called multiple markers. These tests help to determine the potential risk of birth defects and certain genetic conditions. These tests are performed between 15 weeks to 20 weeks of pregnancy. 

AFP Screening: This blood test helps to measure the level of AFP in the blood during pregnancy. AFP is a protein produced by the fetal liver and is present in the amniotic fluid which is the fluid surrounding the fetus. Abnormal levels of AFP may indicate defects in the abdominal wall of the fetus, open neural tube defects, chromosomal abnormalities, miscalculated due date, or even twins. 

Estriol: This hormone can be measured in maternal blood or urine to determine fetal health and is produced by the placenta. 

Inhibin: This hormone is produced by the placenta.

Human Chorionic Gonadotropin: This hormone is also produced by the placenta.

Abnormal results of these tests may require additional testing. Once both the trimester tests are performed, the tests can detect an abnormality more accurately. 

  • Ultrasound: This is a diagnostic technique that uses high-frequency sound waves to create images of the internal organs. This is done to check normal fetal growth and the due date. 

  • Amniocentesis: This test involves taking a small sample of the amniotic fluid that surrounds the fetus to diagnose chromosomal disorders and open neural tube defects. This test is offered to women who have an increased risk of chromosomal abnormalities between the 15th and 20th weeks of pregnancy.  

  • Chorionic Villus Sampling: This is a prenatal test. In this test, a sample of some of the placental tissue which contains the same genetic material as the fetus is taken and is tested for chromosomal abnormalities and other genetic problems. 

  • Fetal Monitoring: During late pregnancy and labor, the doctor may monitor the fetal heart rate to check the rate and rhythm of the fetal heartbeat. The average fetal heart ranges from 120 to 160 beats per minute. An abnormal heart rate may indicate that the fetus is not getting enough oxygen and other problems. It may also indicate an emergency cesarean delivery. 

  • Glucose Testing: This test is done to measure the level of sugar in the blood and done between the 24 and 28 weeks of pregnancy. Abnormal levels may indicate gestational diabetes. 

  • Group B Strep Culture: GBS is a type of bacteria found in the lower genital tract of some women. Even though GBS may not cause problems before pregnancy, it can cause serious illness during pregnancy. It can cause postpartum infection and severe infection of the placental tissues. GBS is also one of the most common causes of serious infections such as pneumonia and meningitis in newborns. 

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Is the egg retrieval painful?

During egg retrieval, you will be sedated and given medication so that you don’t’ feel the pain. After the surgery/procedure, you may feel cramps, soreness, or fullness.

Is bleeding expected after egg retrieval?

After egg retrieval, vaginal bleeding/spotting is common. It is similar to bleeding in periods. In case of excess bleed, you should contact the doctor immediately.

How long do I have to stay in the hospital during and after the procedure?

IVF Procedure does not require any hospitalization. It only requires frequent visits from time to time.

How soon can I return to normal life after IVF?

Once the embryo transfer is done, you can resume your normal life. You may experience cramps because there might be a minor swelling in the ovaries. Stick to a mild routine and avoid exertion as it may affect your chances of getting pregnant.