Genetic Testing's Role in Recurrent Pregnancy Loss Cases

Pregnancy is one of the most beautiful and transformative phases a woman experiences in her lifetime. Bringing a wave of chemical and physical changes; however, it affects the mental state as well. Pregnancy complications can cause stress and imbalance in mental health, sometimes leading to depression.

One of the complications of pregnancy is RPL (Recurrent Pregnancy Loss) which is experienced by around 2.5% of women who are trying to conceive. This article describes the pregnancy complication and how different genetic tests help in determining the cause.

What is Recurrent Pregnancy Loss (RPL)?

Recurrent Pregnancy Loss can be defined as the failure of two or more clinically recognized pregnancies before 20-24 weeks of gestation, including fetal and embryonic loss. The complication be possibly due to:

  • Chromosomal errors
  • Anatomical uterine defects, like polyps, myomas, and cervical insufficiency.
  • Autoimmune disorders, like APA (Antiphospholipid Antibody) Syndrome
  • Chronic diseases, like hypothyroidism, hyperthyroidism, diabetes mellitus, hypertension, and kidney diseases.
  • Endometrial dysfunction

Early pregnancy loss or miscarriage, especially if it is recurrent, can be a traumatic experience. Moreover, RPL is more complicated because system strategies or treatments are available to diagnose the complication properly. However, there are some tests for the couple facing RPL to help access the situation and create a suitable treatment plan to conceive successfully and have a safe pregnancy.

Genetic tests used to detect the reason for pregnancy failure

Here are different genetic tests to detect the cause behind recurrent pregnancy loss:

1. Karyotyping

Karyotyping is a conventional genetic test examining the cells' quantity and organization of chromosomes. It offers insightful information on the genetic causes of recurrent miscarriages, allowing for precise diagnosis and tailored counselling for affected couples.

The procedure entails collecting tissue samples from parents and the miscarried fetal tissue. The chromosomal structure of these samples is then determined by cultivation and analysis. The test results help to compare the chromosomal structure of parents and fetus to determine if any chromosomal abnormalities are inherited or develop spontaneously.

2. Microarray Analysis:

Copy number variations (CNVs), which are even more minute genetic abnormalities, can be found using advanced techniques like comparative genomic hybridization (CGH) and single-nucleotide polymorphism (SNP) arrays.

The microarray analysis reveals minute genetic alterations that conventional karyotyping could miss. Healthcare professionals can more accurately diagnose affected couples and provide customized counselling by identifying particular CNVs and improving their understanding of the genetic causes behind RPL.

It offers a thorough evaluation of the genome, increasing the likelihood of finding genetic anomalies that other approaches would have overlooked.

3. Next-Generation Sequencing (NGS):

Next-Generation Sequencing (NGS) technologies help to sequenceImagethe entire genomes or individual gene panels. It can identify genetic variations and mutations linked to genetic illnesses that may be a factor in recurrent miscarriages.

DNA samples from the parents and fetal tissues are analyzed during NGS to evaluate the genetic structure. This high-throughput sequencing technique can find even uncommon genetic variants that could be a factor in miscarriage.

There are numerous advantages to using NGS in RPL instances. It provides a deeper understanding of the underlying genetic influences, enabling more precise and individualized diagnosis.

4. Pre-implantation Genetic Testing (PGT)

PGT can be used to examine embryos for chromosomal abnormalities or specific genetic problems before implantation when couples undergo in vitro fertilization (IVF). It significantly reduces the miscarriage risk by increasing the likelihood of transferring a genetically healthy embryo.

Embryos are created in a laboratory setting during the IVF process. The process removes some embryonic cells, and genetic examination is carried out of the cells using next-generation sequencing (NGS) or polymerase chain reaction (PCR). This research allows spotting specific genetic mutations or chromosomal abnormalities, guaranteeing that only genetically healthy embryos are chosen for implantation.

PGT increases the likelihood of successful pregnancies and helps reassure couples who have experienced pregnancy loss. It gives potential parents a better chance of having a healthy baby.

Challenges of Genetic Testing in Recurrent Pregnancy Loss

Here are some key challenges and limitations of genetic testing in RPL:

  • Genetic Heterogeneity

RPL is a complicated syndrome that causes pregnancy losses due to genetic factors. Determining the precise genetic aberration that causes each case can be difficult due to many possible genetic variants.

  • Small Sample Sizes

The size of the genetic testing samples used in specific RPL cases may be constrained, particularly when studying fetal tissue from miscarriages.

  • Mosaicism

The term "mosaicism" describes the existence of many cell populations with unique genetic makeups within an individual or embryo. This condition can muddle genetic testing results, making it difficult to determine the importance of some genetic anomalies.

  • Limited Test Coverage

Standard genetic tests might not be able to find all genetic problems linked to RPL. For instance, typical genetic testing panels might not include some rare genetic variations.

Wrapping up,

Managing recurrent pregnancy loss (RPL) poses major hurdles for patients and professionals. However, genetic testing has become increasingly important in identifying the root causes of multiple miscarriages. Chromosomal abnormalities and genetic variations connected to RPL can be found using karyotyping, microarray analysis, and next-generation sequencing. Additionally, genetic testing offers hope for better diagnosis, individualized counselling, and focused actions to assist couples in having healthy pregnancies.

If you are a couple going through a traumatic experience of recurrent pregnancy loss and unable to sustain a healthy pregnancy, Apollo Diagnostics experts are here! We offer comprehensive support with our high-tech technologies and equipment to determine the underlying cause of RPL. Visit our website today and share your problem with our experts!

Frequently Asked Questions (FAQs)

1. What are some reasons for recurrent miscarriages?

Some reasons for frequent miscarriages are poorly balanced chronic diseases, uterine anomalies, autoimmune disorders, endocrine issues, and chromosomal abnormalities.

2. When to go for diagnostic testing for RPL?

It is better to go for diagnostic testing after experiencing two-three miscarriages.

3. Is there any treatment for RPL?

There are treatments available for treating recurrent pregnancy loss. The solution depends upon the identification cause, like:

  • Chromosomal Abnormalities - IVF by choosing a healthy embryo through pre-implantation genetic diagnosis.
  • Uterine Anomalies - Tests like hysterosalpingograms, saline sonohysterograms and hysteroscopy can help determine the cause and minor surgery can help to treat the uterine cavity.
  • Autoimmune disorders - Blood thinning medication can treat APA syndrome.

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