Most pregnant women and couples are often concerned with how their pregnancy is going. They are usually curious to know how their unborn baby is doing.

After pregnancy is confirmed by carrying out blood test for pregnancy, a pregnancy ultrasound (scan) is done to ascertain that the pregnancy is located at the right place on the uterus and that the baby (fetus) is developing well.

Antenatal care is a system set in place to ensure that a women receives the adequate monitoring and care she deserves while pregnant and to make sure the baby comes out whole.

Pregnancy abnormalities are not uncommon. Some people have more risk than others to experience variety of pregnancy abnormalities either in the unborn baby or in the woman. 

Is it important that couples with certain conditions are screened more thoroughly while pregnant for any of the possible abnormalities.

Risk Factors Leading To Abnormalities In A Baby

It is crucial to understand that prenatal exposure to drugs, alcohol, or other environmental variables can result in some birth abnormalities, developmental delays, and/or diseases.

You run a higher chance of passing genetic disorders to your unborn child if: 

  • A hereditary illness runs in the family 
  • A previous child who had a hereditary disease 
  • Chromosome abnormalities in one parent or both
  • Maternal age is advanced (35 or older) 
  • Advanced Paternal age  (40 or older) 
  • Previous stillbirth or numerous miscarriages.

Prenatal Testing During Pregnancy

Depending on the type of birth defect, birth defects can either be detected during pregnancy or after the baby is born. Here are ways to detect if there are any issues with the baby while in the womb.

  1. Screening Tests 
  2. Diagnostic Tests
How To Know That Your Unborn Baby Is Fine
Testing & Diagnosing Babies While In the Womb

Screening Tests

A screening test is a technique or test used to determine if a pregnant woman or her unborn child may have certain health issues.  Its important to note that the screening tests are not usually 100% accurate, a diagnostic test is necessary to make a precise diagnosis. Any worries you have regarding prenatal testing should be discussed with your doctor.

These prenatal screening tests are often provided to expectant mothers to look for birth abnormalities or other issues that could affect the mother or the unborn child.  

Screening Tests That Can Be Done in the First Trimester

A series of tests are performed between weeks 11 and 13 of pregnancy as part of first trimester screening. It is employed to check for certain birth problems connected to the baby’s heart or chromosomal conditions, such Down syndrome. A blood test and An ultrasound for the mother are part of this screening.

  • Blood test for the mother

A quick blood test is used for the maternal blood screen where 2 specific proteins,

human chorionic gonadotropin (hCG) and 

pregnancy-associated plasma protein A, (PAPP-A) are measured. A chromosomal abnormality in the infant may exist if the protein levels are unusually high or low.

  • Ultrasound

Images of the infant are created during an ultrasound. The first trimester ultrasound scan searches for more fluid behind the baby’s neck. If there is more fluid than usual during the ultrasound, the baby may have a chromosomal issue or a cardiac defect.

Screening Tests That Can Be Done in the Second Trimester-

Testing for the second trimester is done between weeks 15 and 20 of pregnancy. They are used to check the newborn for certain birth abnormalities. A maternal serum screening and a thorough ultrasound examination of the unborn child are included in second trimester screening procedures that search for the existence of structural defects. This is  known as an anomaly ultrasound.

  • Mother’s serum screening

The maternal serum screen is a quick blood test used to determine if a woman is more likely than not to give birth to a child who has a particular birth defect, such as a neural tube defect or a chromosomal condition like Down syndrome. Depending on how many different proteins were detected in the mother’s blood, it is sometimes referred to as a “triple screen” or “quad screen.” An example of such a test is the quad screen, which measures the levels of AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. The maternal serum screen is typically finished in the second trimester.

  • Ultrasound of the fetus

A fetal echocardiography is a diagnostic that assesses the baby’s heart for abnormalities before birth using sound waves. Compared to a standard prenatal ultrasound, this test may be able to show a more accurate picture of the baby’s heart. Even with a prenatal echocardiography, certain cardiac abnormalities are not detectable prior to delivery. A thorough ultrasound may be performed to check for further issues with the growing baby if your healthcare professional discovers a problem with the baby’s heart anatomy.

  • Abnormality Ultrasound

Images of the infant are created during an ultrasound. Usually, this test is performed between 18 and 20 weeks of pregnancy. The purpose of the ultrasound is to measure the baby’s growth and check for any birth abnormalities or other issues.

Diagnostic Tests

Doctors typically recommend additional diagnostic tests if the screening test result is abnormal in order to identify any birth abnormalities or other potential issues with the baby. These diagnostic tests are also made available to women who are having higher-risk pregnancies. These women may be 35 years of age or older, have had pregnancies that resulted in birth defects, have chronic illnesses like lupus, high blood pressure, diabetes, or epilepsy, or take specific medications.

  • Ultrasound with high resolution

This is a diagnostic test where images of the infant are created during an ultrasound. This ultrasound, sometimes referred to as a level II ultrasound, is used to more thoroughly examine the baby for any potential birth abnormalities or other issues that the earlier screening tests may have indicated. In most pregnancies, it is done between weeks 18 and 22.

  • Chorionic Villus Sampling (CVS)

In a test termed CVS, a little portion of the placenta known as the chorionic villus is taken and analyzed to look for chromosomal or genetic problems in the unborn child. Women who had an abnormal result on a first trimester screening test or those who could be at higher risk are typically offered a CVS test. It is finished earlier than an amniocentesis, between 10 and 12 weeks into the pregnancy.

  • Amniocentesis

In an amniocentesis, a little quantity of amniotic fluid is taken from the region around the fetus. The baby’s protein levels are then determined by testing the fluid, which may reveal some birth abnormalities. For chromosomal abnormalities like Down syndrome and genetic issues like cystic fibrosis or Tay-Sachs disease, cells in the amniotic fluid can be examined. Women who had an abnormal screening test result or those who could be at increased risk are often offered an amniocentesis. this diagnostic test is usually completed between 15 and 18 weeks of pregnancy. Here are a few of the proteins that an amniocentesis test checks for.

AFP

Alpha-fetoprotein, a protein produced by the developing infant, is known as AFP. A newborn may have a defect suggesting a hole in the tissue, such as a neural tube defect (anencephaly or spina bifida), or a body wall defect, such as omphalocele or gastroschisis, if there is a high level of AFP in the amniotic fluid.

AChE

Acetylcholinesterase, often known as AChE, is an enzyme that is produced by infants. If there is a hole in the neural tube, this enzyme can leak from the infant into the fluid around the infant.

 Testing After the Baby is Born

It’s possible that some birth defects won’t be discovered until after the baby is born. Sometimes the birth defect is evident as soon as the baby is born. Other birth anomalies, such as certain heart problems, may not be discovered until much later in life.

When a baby has a health issue, the primary care physician may perform a physical examination, obtain a medical and family history, and perhaps suggest further testing to check for birth abnormalities. The primary care physician may refer the baby to a genetics and birth defect expert if a diagnosis cannot be reached following the examination.

A physician with specialized training to assess patients who may have genetic disorders or birth abnormalities is known as a clinical geneticist. A precise diagnosis might not be made, even if a baby consults a professional.

References

https://women.texaschildrens.org/program/maternal-fetal-medicine/conditions/genetic-disorders-fetus

https://www.cdc.gov/ncbddd/birthdefects/diagnosis.html

https://www.romper.com/p/7-ways-to-tell-your-pregnancy-is-going-well-according-to-experts-8626450