One in every ten people suffers from infertility. There are several causes that can contribute to infertility. These can in turn also cause recurrent abortions and bad obstetric history. The good news is that there is a solution to this problem. The treatment serves both men and women as the problem affects both genders. However, the cause for the problem is different in both men and women. 

What is genetic testing for infertility and bad obstetric history?

Genetic testing involves assessing a sample of cells to evaluate whether the genetic problems present in the parents is causing infertility. There are various genetic tests used in fertility care. It additionally serves to evaluate whether any existing genetic issues will be passed down to the offspring. The causes of genetic infertility can be explained as follows: 

In women : 

• Recurrent  miscarriages
• Premature ovarian failure in early 30s
• Absent Uterus or vagina 
• Irregular period. 

In Men:

• Severely reduced or absent  sperm count and motility  
• Reduced testesterone
• Small testicular size and volume 

 

 

Genetic fertility test in men

Low sperm production, abnormal sperm function and blockages are some of the reasons for infertility in men. Doctors at Tulsi Clinic are well-equipped and well-trained to identify the issues that men face. The diagnosis involves a full medical examination which includes a  physical examination, blood tests, ultrasonography of the scrotum and semen analysis along with a thorough medical history. If you or your partner has a family history of male infertility, you will also be advised a consultation with a geneticist as these disorders can be passed onto the male offsprings via the male “Y chromosome”. Male partners also have the option of undergoing NGS panels specifically related to Male Infertility which help identify genes which have been passed down in the family from male relatives. This leads to multiple male relatives in the family to be afflicted with infertility with various degrees of severity. However, as male infertility is still considered as taboo, it is usually not openly discussed among the family and hence diagnosis through history becomes difficult at times.

A few ways in which doctors conduct genetic testing for male infertility are listed below.

• Blood of the male partner is collected via routine method
• It is tested for Y chromosome abnormalities and micro-deletions
• The common disorders found due to micro deletions are: Sertoli Cell only syndrome, Maturation Arrest, Hypospermatogenesis
• Karyotype Anomalies: Klinefelters Syndrome(XXY)
• Confirmation of diagnosis: Testicular biopsy for presence of sperms

 

Genetic fertility test in women

Female infertility is a complex problem with many causes. Of them, even the ones that are genetic in nature like premature ovarian failure, absent or incomplete X chromosome, PCOS and endometriosis have a polygenic inheritance, meaning multiple genes are involved in their cause. 

There are also multiple genes that cause thrombophilias that can lead to recurrent pregnancy loss. In such a situation, genetic testing of multiple genes can now be done through NGS or Next Generation Sequencing of Genome. This is the most advanced way of scanning your entire genome for specific problems in genes responsible for infertility and recurrent pregnancy loss. 

If you are not able to conceive, visit Tulsi Clinic for genetic testing for female infertility and recurrent pregnancy loss. 

This testing will include:

• Ultrasonography to determine the specific problem area i.e the ovaries, uterus or fallopian tubes
• Thorough history & examination to determine if the cause of your problems is genetic
• Blood sampling and home collection if requested for sample collection for genetic testing
• Counselling 
• Management of abnormalities as per the latest guidelines and recommendations 

Genetic testing of products of conception:

Recurrent abortions and early pregnancy losses can occur due to genetic problems in the embryo. In such cases, although both the parents may be normal in health with no obvious physical problems, they can carry hidden mutations on their genes which get combined during fertilisation and can pass on to the embryo. such mutations are often incompatible with life and the embryo does not survive beyond first 2-3 months of pregnancy , leading to an abortion. This can keep occurring repeatedly leading to  recurrent pregnancy losses. In such cases, it is possible to preserve some parts of the pregnancy for genetic testing to determine if it is indeed a genetic problem with the pregnancy. The parents too undergo a genetic testing procedure called karyotyping to diagnose any silent mutations on their genome. 

NGS ( Next Generation Sequencing):

Next-generation sequencing (NGS) permits the simultaneous interrogation of multiple disease-causing variants in many genes, allowing expanded genetic diagnostics to be routinely used in medical practice. NGS is faster in giving results as compared to traditional methods of genetic analysis. 

NGS is also very cost-effective as it allows for the detection of very different types of variants (for example, SNVs, small indels, large Y chromosome deletions, and sex chromosome aneuploidies) by using a single test in combination with multiple bioinformatics algorithms to process these diverse data. This test is useful to detect abnormalities on a large number of genes at the same time allowing for diagnosis in patients and products of conception. The results of this test play a key role in determining further clinical management in such patients. The cost of this test is between 14,000 INR – 18,000 INR.

NGS Genetic screening is available at Tulsi Maternity & Gynaecology Clinic for all purposes including infertility and recurrent abortions. 

With the diverse lifestyles and levels of stress that both men and women go through, it is not unusual that the number of infertility problems among men and women are increasing. However, there are always remedies for these issues. Genetic testing for infertility problems can diagnose any type of fertility problem, and there are usually remedies for these problems. So, if you are looking for a genetic testing infertility centre, you should visit Tulsi Clinic where you can consult with the best gynecologist in Mumbai for infertility.