Pregnancy Genetic Testing Options and Purpose: What Expecting Parents Should Know

This article comes as a collaboration from health writers Mike Thompson and Carla Jansy. In this post, they discuss the various genetic testing options available to expecting parents and the reasons why it can be beneficial to do pregnancy genetic testing. Be sure to check out their full bios at the bottom of the article.

Also be sure to check out the articles listed at the bottom of the article for additional resources on pregnancy health and life..

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Disclaimer: Please note that this article is for informational purposes only. Nothing in this article should replace or be taken as medical advice. Any medical topics addressed in this article should be discussed with a doctor.

Pregnancy is a time of anticipation, questions and making crucial choices, some of which center around pregnancy genetic testing. Genetics are one of the greatest factors that affect the development of a baby prior to birth. Inherited genes and patterns of chromosomes are important in the prenatal stages of development, both physically (in terms of features such as the color of the eyes) and more so in complicated health conditions.

Knowledge about the influence of genetics on early development can assist future parents in making wise decisions regarding prenatal genetic testing, genetic screening during pregnancy and general pregnancy care. Decisions regarding which – if any – pregnancy genetic testing to do are personal and should be made with as much information as possible.

What Is Prenatal Development?

Prenatal development is a process through which a baby grows and develops in the uterus starting at conception up to birth.

Stages of Prenatal Development

Prenatal development may be further subdivided into three major phases:

Germinal Stage (Weeks 1-2)

Fertilization occurs.
The fertilized egg starts multiplying very fast.
The process of an implantation to the uterine wall occurs.

Embryonic Stage (Weeks 3-8)

Major organs and body systems start developing.
The heart starts beating.
The brain and spinal cord develop early.

Fetal Stage (Week 9 to Birth)

Further development and maturation of organs.
Growth of face, limbs and internal organs.
Significant development of brain.

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Each of these stages is guided by genetic instructions that dictate how cells differentiate and organs form, though maternal health and environment can also influence these processes.

How Genetics Influence the Growth of the Baby

Each parent passes half his or her DNA to the baby. The instructions contained in these genes affect:

Physical characteristics (hair texture, hair color, height potential)
Blood type
Metabolic functions
Proneness to inheritable conditions.
The formation and functioning of the organs.

The genes are grouped in the form of chromosomes- one normally has 23 chromosomes. When chromosomes are properly developed and allocated, development will be normal. Nevertheless, chromosome abnormalities may occur when there is an alteration in the number or form of chromosomes and this may have implications on growth or health.

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There is also close interaction between genetics and maternal health. For example, genetic instructions may be expressed differently in development depending on factors such as nutritional status, exposure to toxins and some medical conditions.

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Signs of Chromosomal Abnormalities During Pregnancy

The symptoms of chromosomal abnormalities are not necessarily apparent during pregnancy. Nevertheless, some results of the standard prenatal care can raise additional consideration including:

Atypical ultrasound images.
Uncharacteristic screening test results.
Retarded fetal development.
Genetic condition in the family.

What Causes Chromosomal Abnormalities

The common occurrence of chromosomal abnormalities is as a result of cell division errors during early development. These errors are typically random and not caused by the actions or inactions of the parents. Advanced maternal age may increase the risk, but abnormalities may occur at any age.

Prenatal Diagnosis of Genetic Abnormalities

In the event that the screening outcomes indicate a greater risk of a condition, diagnostic testing can be provided. Diagnostic tests are aimed at determining the presence of a certain genetic change.

Such tests normally entail the use of fetal cells that are obtained using procedures like the chorionic villus sampling (CVS) or amniocentesis. Diagnostic tests are more invasive, unlike screening tests, which give ultimate responses.

When You Can Test for Genetic Abnormalities in Pregnancy

The following are the testing timelines based on the nature of evaluation:

First-trimester tests: Approximately 10-13 weeks.
Non-invasive prenatal testing (NIPT): From around 9-10 weeks
Second-trimester screening: Approximately 15-20 weeks.
Diagnostic testing (CVS): Approximately 10-13 weeks.
Amniocentesis: Typically after 15 weeks.

Timely information access will enable parents to have more time to know the options and prepare the next steps (where necessary).

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Prenatal Genetic Screening Options

Pregnancy genetic testing and screening are done to determine the probability of a baby developing some genetic disorders. Screening tests are approximations of risk; they do not diagnose.

Usually genetic screening during pregnancy choices involve:

First-trimester multifactorial screening (blood test + ultrasound).
Second-trimester maternal serum (maternity screen).
Conditions inherited and screened by the Carrier.

Non-Invasive Prenatal Testing (NIPT)

NIPT analyzes small fragments of fetal DNA in maternal blood to detect certain chromosomal abnormalities safely. With recent advancements, NIPT can also be used to determine paternity during pregnancy. It filters certain conditions in the chromosomes and is said to be very sensitive to some abnormalities. It does not involve any direct harm to the pregnancy because it is only necessary to draw blood.

Difference Between Screening and Diagnostic Testing

Screening: Screening tests project the risk of a condition and help determine whether further assessment is needed

Diagnostic: Diagnostic tests identify the presence of a genetic condition.

How Early Genetic Information Can Help Parents Prepare

There are a number of benefits that may arise from access to early genetic information:

Giving time to consult the experts.
Preparation of possible medical needs during birth.
Making informed choices on the delivery location.
Getting ready in both an emotional and practical way on various outcomes.
Genetic information provides comfort to some families. To others, it offers clarity that assists in medical planning.

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Notably, early information does not mean that one should make a decision now; on the contrary, it provides the knowledge that may be applied by parents based on their values and situations.

Respecting Different Choices Around Pregnancy Genetic Testing

Pregnancy genetic testing is a very personal decision. Some parents get screening in order to get as much information as possible concerning the health of their baby. Others may refuse testing because of their personal beliefs, emotional concerns, or because they want to wait until the birth.

There is no single ‘right’ choice; it depends on the family’s values, culture, and level of comfort. Care providers are trying to offer evidence-based information to enable parents to make a choice based on their perceptions of what is right.

Conclusion

Genetic factors are the basic determinants of growth during the prenatal development period, affecting all aspects, including physical features and the predisposition to some health problems. Genetic screening of pregnant women has advanced, such as non-invasive prenatal testing, which presents expecting parents with a choice to learn more about the existence of chromosomal abnormalities in the fetus.

Although these tools may be very insightful, they are not mandatory but serve as optional diagnostic tools. Through the study of the relationship between genetics and maternal health in pregnancy, parents are able to approach prenatal needs with knowledge, confidence, and respect in regard to their individual decisions.