Your pre-pregnancy journey is a mix of many thoughts and emotions. It’s all about to do’s and don’ts. All that occupies your mind is to cross this journey and arrive at the destination with complete safety and precaution.

The pregnancy checklist is endless with a ‘no’ for smoking, ‘yes’ for pre-pregnancy diet, ‘no’ for self-medication, ‘yes’ for preconception screening, and a lot more.

This blog details everything you would need to know about preconception screening before your pregnancy.

What is preconception screening?

‘Preconception’ in simple words means the test that is done before you get pregnant.

Preconception Screening

Preconception planning or a premarital screening or preconception carrier screening is a simple blood test that you and your partner should take to understand how suitable you are to have a child without any genetic disorder that might negatively impact your little one after its birth.

This preconception appointment is very crucial if you are in your mid-30s or 40s or even more if you have had any chronic health conditions.

What is the need for a Preconception Screen test?

We agree! It may seem excessive—fine-tuning your fitness regime and lifestyle, the folic acid intake, preconception screening, etc.

But trust us, it’s all worth it. Studies have proved that diligent follow-up on your preconception care can double your chances of becoming pregnant minus the risks of miscarriage or other complications.

Here are a few pointers why this preconception screening is phenomenal during pre-pregnancy.

To determine your carrier status:

By being a carrier, you might unknowingly pass a genetic trait or a mutation without experiencing any symptoms.

Some people may have certain genetic conditions which could be a carrier of the gene.

The preconception screening will let you know if you have any such conditions.

The screening is effective as it helps diagnose the carrier status of around 590 diseases by checking the mutation levels in 552 DNA genes.

It spots diseases including X-linked or autosomal, which are very risky. While there are many recessive mutations that might not hinder your health, the same could cause major disease to your baby if your spouse/partner carries the same gene mutation. So never miss out on this.

How is the preconception carrier screening done?

This simple test is conducted by taking either the samples of your saliva, blood, or tissue from inside your cheek region. Ideally, most people have around 4-5 DNA alterations in their genes tested.

This is nothing but the mutations that may cause diseases. On testing, if both the partners carry mutations in the same gene, they could be at risk of having their baby with a specific disease. This is when your doctor might suggest a screening.

The tests often includes;

Targeted carrier screening:

This test is basically done based on your family history or a particular ethnic background, considering certain races carry certain genes.

Expanded carrier screening:

 This test uses a single sample to test multiple disorders. Unlike the targeted carrier screening, this does not count race or ethnicity but focuses on the acute conditions that start early in life.

The doctor will help you understand the kinds of screenings you would need based on your current state of health.

Post the test, she may either herself or with the help of a certified genetics counselor may explain the results in a way to help you make decisions.

Disorders identified in preconception screening

As per research, around 3,000 inherited disorders are found to be individually rare, but mutually affect roughly 1% of newborns.

On a deeper level, the test helps diagnose the following common diseases; Phenylketonuria, Cystic fibrosis, Adrenoleukodystrophy, Adrenal hyperplasia, Fragile X syndrome, Sickle cell disease, Tay-Sachs disease, Huntington’s disease spinal muscular atrophy

Importance of preconception screening for your second or third pregnancies

Do not ignore preconception screening for your following pregnancies thinking it’s unimportant.

Even if you never had any complications in your previous delivery, it is essential to get screened for the subsequent ones as well.

Remember, your body might have changed during the course since you were last pregnant.

Preconception screening is mandatory if you have had one of the following issues:

Preconception Screening is mandatory

Premature birth 

Birth happening before the said 37 weeks of pregnancy.

Baby with birth defects 

This is if you have had kids earlier with improper shape or dysfunction.


A state where the baby dies before 20 weeks of pregnancy in your womb.


A state when the baby dies in the womb, but after 20 weeks of pregnancy.

How to prepare for a preconception checkup and the role of your obstetrician?

Role of obstetrician in preconception screening

Step 1: Book a checkup with your doctor even before you start planning for a family expansion to get tips to conceive from an expert.

Step 2: Be open to discussing your and your spouse’s medical history. Never hide if your family has gene mutations. It could be a chronic medical condition like diabetes, high blood pressure, but let your obstetrician know it. They need to be under control before you try to conceive.

Step 3: Disclose the medications you take including prescription or over-the-counter medicines, Pre pregnancy vitamins supplements, or other herbal products.

Step 4: Your doctor might show keenness to know about your weight, habits, lifestyle to advise on the kind of tests you would need for that mutation.

Step 5: If you have been using any birth controls, let your doctor know about it. He/she may suggest you stop taking it as you start your pregnancy plan to get your normal menstrual cycles.

A follicular study may be suggested to track your ovulation period and to determine when to have intercourse for an effective conception.

Step 6: If you have any infections that are sexually transmitted including chlamydia, gonorrhea, then they might disturb your pregnancy path.

Be open to this and get enough help from your healthcare provider for preconception screening, treatment, and follow-ups.

Step 7: Let the doctor know if you have had any previous pregnancies or related complications like preterm labor, gestational diabetes, birth defects, or any premature birth of a C-section before.

Step 8: Talk about those vaccines you have taken and are yet to take. Remember if your vaccination cycle is not complete, it could mean you are not sure of which diseases you are immune to.

Hence your preconception care might include certain blood tests to determine the immunity levels of vaccinations taken prior or not taken at all.

Steps to follow when you are tested positive

After screening, if you and your spouse carry the same gene mutation, your doctor may explain to you the available diagnostic options to take up. This will help you plan well for your pregnancy.

The mutations that are carried by a single parent are also reported and taken into consideration for future planning.


Pregnancy is a wonderful experience in a parent’s journey. One cannot compromise on anything there.

Before you begin dwelling on your pre-pregnancy diet, pre-pregnancy vitamins and what to avoid before getting pregnant etc., you should primarily schedule a preconception appointment with your healthcare provider to assess your fitness for pregnancy at physical, genetic and hormonal levels.

Best wishes towards your pregnancy journey.

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