Pre-Pregnancy Tests and Screenings

The news of a pregnancy is received with tremendous happiness and calls for celebration in the family. While pregnant women look happy, this does not mean they are carefree. A mother-to-be has a lot on her mind. From anxiety about how the birth of her baby will be if it’ll be painful if the birth process will go smoothly if the baby will be free of any health complications among many other worries.

A baby’s birth is a risky procedure no matter how much care you’ve taken. Even mothers getting the best nutrition may face the gravest dangers in the duration of their pregnancy, while giving birth and soon thereafter with respect to their own health and the health of her baby.

A Safe Birth, a Happy Birth

In order to ensure the gestation phase, birth and post-natal phases are healthy and happy for the mother, baby and their families, getting the requisite pre-pregnancy tests done is essential. Pregnancy tests are extremely critical tools for diagnosing serious health risks such as birth defects, the excess amniotic fluid that could lead to serious complications, spinal defects, defects in vital organs of the baby, genetic defects among others. Pregnancy tests also help the doctor and patient determine if it is feasible for the mother to carry the baby or if an unfortunate decision has to be taken to terminate the pregnancy much before the due date.

Although the latter leaves a terrible impact on the mother, the father and the rest of the family, sometimes it is best to decide not to have the baby come into the world. A pregnancy complication such as a serious viral or bacterial infection can be fatal for the mother or baby and in the worst-case scenario for both mother and child (or children in case of twins/ triplets). In order to prevent such a terrible tragedy, it is better to prepare mentally and fully trust your doctor and make a decision. In most cases, to avoid making this difficult choice, it is best to get screened and tested in each trimester to eliminate the possibilities of birth defects in your child or children, risking your own life and not having a baby at all. Children born with birth defects face several challenges such as physical pain, mental and social challenges. Many do not survive into adult life, leaving a void that is very difficult to fill.

Pre-Pregnancy Tests

On the whole, pregnancy tests and screenings are the most practical way of ensuring a healthy pregnancy and baby. If a concern is diagnosed early on, it can be treated or pregnancy can be aborted on medical grounds thus saving parents a lot of grief and pain.

Let us now explore the requisite tests and screenings in order to ensure a healthy and happy pregnancy and birth.

Firstly, being pregnant means you are irritable, moody, and heavy! Therefore you may become lazy and opt to skip a test or two because going to the pathological lab to give your blood and urine samples, then taking the reports to your obstetrician or gynaecologist to the clinic or hospital, ensuring your sonographies are regular etc. can become overwhelming. However, we recommend that you stick to the latest guidelines for common pregnancy tests based on your doctor’s advice and undergo all the tests as advised by them.

Screening for Genetic Abnormalities

It is essential to diagnose any genetic abnormalities before birth. We advise all pregnant women to take all tests under this category. It is especially critical for those women to undergo these screenings who have a history of genetic disorders or have spouses who may have genetic disorders or have family members affected by them. In addition, if the pregnant woman has been a mother before and her baby or fetus was diagnosed with a genetic abnormality, it becomes all the more important for her to undergo these critical screenings.

The genetic abnormalities that can be detected or diagnosed by genetic screening tests are — 1) Cystic fibrosis 2) Duchenne muscular dystrophy 3) Hemophilia A  4) Polycystic kidney disease 5)Sickle cell disease 6) Tay-Sachs disease  7) Thalassemia

According to Johns Hopkins Medicine, the screenings that can detect genetic abnormalities are as follows:[1]

  • Amniocentesis
  • Ultrasound scan
  • The cell-free fetal DNA testing
  • Chorionic villus sampling
  • Percutaneous umbilical blood sampling (withdrawing a small sample of the fetal blood from the umbilical cord)
  • Alpha-fetoprotein (AFP) test or multiple marker test

First Trimester Prenatal Screening Tests

During the first trimester, pregnant women undergo tests that include ultrasound and blood tests. This screening process is crucial to diagnose the fetus for any birth defects. The screenings in the first-trimester screening include:

  • Ultrasound for fetal nuchal translucency.

Johns Hopkins Medicine,

  • Ultrasound for fetal nasal bone determination.
  • Maternal serum (blood) tests

The nuchal translucency screening and maternal blood tests have a good chance of diagnosing birth defects such as Down syndrome (trisomy 21) and trisomy 18.

If the diagnosis shows any defects or abnormalities, genetic counselling is recommended.

Second Trimester Prenatal Screening Tests

In your second trimester, you must undergo a series of blood tests which are known as multiple markers. This series of screenings determine any potential birth defects in the fetus between 15 and 20 weeks. However, it is also advisable to undergo the tests sooner than later even in this timeframe. The AFP screening or the maternal serum is a protein which comprises the amniotic fluid which protects the fetus. Therefore abnormal levels of AFP are a cause for concern and can point to the following issues:

  • The chances of the baby having Down syndrome or other chromosome-related problems
  • The abdominal wall of the fetus may have abnormalities
  • A due date different from the previously determined one
  • The possibility of having twins
  • Open neural tube defects such as spina bifada

The marker test also helps check levels of hormones such as estriol, inhibin and human chorionic gonadotropin which are produced by the placenta, again a very crucial factor in ensuring optimal health of the fetus.

In the third trimester of pregnancy, there are several ultrasounds that a pregnant woman must undergo. There are two methods of performing an ultrasound. These are:

  • Transvaginal Ultrasound
  • Abdominal Ultrasound

The important tests that are done through the ultrasound method are as follows:

  • Amniocentesis
  • Chorionic Villus Sampling
  • Fetal Monitoring
  • Glucose Testing
  • Group Strep B Culture

This the main pregnancy tests framework which highlights the series of tests and the problems they can diagnose in order to ensure the minimum possibility of the baby being born with any abnormalities or defects. Pregnancy tests also increase the chances of a safe pregnancy for the mother and in some cases can even save her life.

Author: Dr. Harsh Desai, MD
Dr. Harsh Desai is a Hospital Board Executive and General Practitioner (GP) with a special interest in Urology at Regency Medical Centre, Dar-Es-Salaam, Tanzania. He also has past experience in Pharmaceutical Industry within Regional Medical Affairs. He has a passion for introducing working models of primary and secondary healthcare delivery in the UK, into the African healthcare space.

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