Can Genetic Testing Explain the Cause of Recurrent Miscarriages?

Recurrent miscarriages, defined as the consecutive loss of two or more pregnancies before the 20th week of gestation, can be a devastating experience for couples that want to experience the joy of parenthood. Not only does it take a toll on their physical well-being, but impacts their emotional well-being equally.

The causes of recurrent miscarriages are multifactorial, ranging from hormonal imbalances and structural abnormalities to immune system dysfunction. In recent years, genetic testing has emerged as a valuable tool in the investigation of the reasons behind recurrent pregnancy loss.

If you are curious about the root cause of recurrent miscarriages and want an in-depth understanding of what’s wrong, we have sorted out all the relevant details in this article.

What are the Common Chromosomal Variants Responsible for Miscarriage?

Genetic abnormalities are among the leading causes of recurrent miscarriages, with chromosomal aberrations being a common culprit.

For those that aren’t aware, chromosomes are the structures within cells that carry the genetic information, and any disruption to the structure or normal can contribute to the elevated risks of miscarriage in individuals.

While chromosomal abnormalities can occur sporadically, some individuals may carry genetic mutations that predispose them to an increased risk of recurrent pregnancy loss.

Some of the most common chromosomal variants that are associated with miscarriage are:

Trisomy 16

This involves the presence of an extra Chromosome 16 instead of the standard two. The issue typically affects between 1-1.5% of pregnancies and contributes to 16% of the miscarriages that are reported annually.


This type of chromosomal abnormality leads to an extra copy of all the chromosomes. It is a very rare condition that affects only 1% of the pregnancies reported worldwide.

Turner syndrome

The last type of abnormality is a condition where only a single type of sex chromosome is present instead of the normal two sex chromosomes. Patients who conceive with this disorder have a 1% chance of giving live birth, which is quite heartbreaking.

When we think of chromosomal abnormalities, the first thing that most people do is blame themselves, thinking that it has something to do with one’s heredity and genetics. We need to realize that these conditions aren’t passed down through generations but instead occur randomly.

Miscarriages are unfortunate and devastating. But, according to the reports, around 5% of pregnant women who have experienced a miscarriage will experience it again. Also, only 1% of women experience miscarriage three or more times, making it a rare occurrence too.

What are the Different Genetic Testing Techniques?

Genetic testing is quite a foreign concept for many patients who walk into our clinic at Queen’s Gynecology. Since there aren’t a lot of open discussions surrounding genetic testing, it isn’t surprising that most patients are either confused about what it means or don’t want to proceed because they don’t have relevant information.

Our team at Queen’s prioritizes patient education to help our patients make informed decisions about their treatment. When it comes to the different genetic testing techniques to assess the cause of miscarriage, there are a few worth highlighting.

1. Karyotyping

This is a traditional genetic testing method that helps to assess the number and structure of the chromosomes in a cell to look for any kinds of abnormalities or anomalies. Karyotyping can be performed on blood samples from both partners to assess the risk of chromosomal abnormalities.

2. Microarray Analysis

This technique assesses and analyzes the entire genome for copy number variations (CNVs) or small genetic mutations. The primary intent of this technique is to identify submicroscopic chromosomal imbalances that may contribute to recurrent miscarriages.

3. Next-Generation Sequencing (NGS)

When it comes to one of the most advanced types of genetic testing techniques, NGS stands out at the top. It involves rapid and cost-effective sequencing of DNA to identify single nucleotide variations, small insertions or deletions, and other genetic mutations that could potentially be contributing to the repeated miscarriages that one is experiencing.

How to Proceed with Family Planning after Repeated Miscarriages?

Most women who experience a miscarriage are scared of conceiving again, fearing the worst is about to happen again. This is where experienced specialists like ours at Queen’s Gynecology step into the picture.

Besides conducting genetic testing to find out potential triggers or associations that could explain repeated miscarriages, we also help our patients proceed with their family planning goals with a positive mindset and outlook.

Some of the most effective alternatives include:

1. Opting for IVF (In vitro fertilization)

For couples that are having a hard time getting pregnant naturally, IVF is always a viable option that we recommend because of its effectiveness and satisfactory results. In this technique, the fertilization of the egg and sperm is done outside the body, following which the embryo is transferred into the intended mother’s uterus.

This can significantly reduce the risk of miscarriage for couples with known genetic predispositions.

2. Using donor eggs or sperm

In cases where one partner carries a significant genetic risk, using donor eggs or sperm may be considered as an alternative to reduce the likelihood of passing on genetic abnormalities to the offspring.

We offer comprehensive resources and prioritize open discussion about the donor program with our patients to ensure they have all the information they need before deciding their family’s future.

3. Prenatal screening and diagnosis

If you are planning to get pregnant and want to be safe than feeling sorry, getting a thorough reproductive evaluation is always ideal and recommended. With the kind of lifestyle that the majority of the population leads, several undiagnosed diseases could pose a limitation for a smooth conception.

Getting prenatal screening and thorough evaluation before you start family planning is a great way to set aside all the worry and make relevant decisions that would influence your and your partner’s future.


Experiencing the heartbreak of recurrent pregnancy loss can eventually take a toll on the minds of the couple trying to have a baby. As genetic testing continues to evolve, it holds the promise of further unraveling the intricate genetic landscape underlying recurrent miscarriages.

If you are struggling with a similar situation and need personalized guidance and assessment, we are here to help you at Queen’s Gynecology. For details about our services or to schedule an appointment, kindly contact our team at +91 9654999888.

Kashmera Hazra

Kashmera Hazra

Kashmera Hazra is an engineer turned writer. She is an alumnus of the prestigious university Birla institute of technology, Mesra, and has several international journals and research papers in her name. She worked as a content writer with HealthKart and has over six years of experience in this field.

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