Gujarat Hardlook | Prenatal testing: A window to the future, a burden of choice

This Ahmedabad couple is among the growing number of parents opting for prenatal genetic testing to detect inherited genetic conditions in the foetus, often classified as rare diseases with limited or costly treatment options or poor prognosis. The most common genetic disorders for which PND is routinely being used include sickle-cell anaemia, Thalassemia, Inborn Errors of Metabolism (IEM) disorders, neurological disorders such as Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), as well as other uncommon genetic conditions such as cystic fibrosis.

For all foetuses with a confirmed diagnosis for a genetic disorder, the clinical management involves a multidisciplinary approach (Source: FRIGE)

Early diagnosis has facilitated timely medical information and provided options for prevention, such as MTP in affected cases after genetic counselling. For all foetuses with a confirmed diagnosis for a genetic disorder, the clinical management involves a multidisciplinary approach.

A child born in Ahmedabad died within two days of birth. Genetic testing at the Institute of Kidney Disease and Research Centre (IKDRC) revealed that the parents carried an enzyme-defect disease that would have hindered the child’s digestion of breast milk, likely causing the infant’s death. Several geneticists confirmed that the lack of awareness amongst paediatricians and gynaecologists, especially in rural areas, leading to rare diseases goes undiagnosed till symptoms get worse. While in most rare diseases, symptoms show up in childhood or by adolescence, there are genetic disorders that can show up even at the ages of 20, 30 and 40 years.

Ahmedabad-based Clinical Geneticist and Counsellor Dr Sheetal Sharda said, “Awareness about genetic testing only comes when there is somebody in the family who either has a rare disease or has experienced it and they have the knowledge that it is genetic, then the couple will go for testing”. She stated that in the last two decades, awareness has grown but there are still multiple factors involved such as the type of disease, how rare it is, the type of doctor they are visiting, what is the education status of the couple and accessibility in terms of rural or urban areas. “For example, there is a lot of awareness about sickle cell anemia in Gujarat’s Tapi and the Dang districts and many couples come from screening because they have a better understanding of the issues. However, in some very rare diseases, it can so happen that doctors may also not realise that genetic screening and diagnosis may be required and the couple may need to be counselled accordingly”, she says.

A 25-year-old woman from Kheda, Gujarat, with a rare genetic musculoskeletal degenerative disease, underwent a heart transplant on March 9 and is now recovering post-surgery, having only discovered her condition during family planning.

The woman, Seema, suffers from Limb-Girdle Muscular Dystrophy (LGMD), one of the nine variations of Duchenne Muscular Dystrophy . Despite her condition, she had minimal symptoms and led a relatively normal life, getting married and planning a family. However, in 2022, she and her husband, a local businessman, discovered her heart was weak.

Duchenne Muscular Dystrophy is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects males due to its X-linked recessive inheritance pattern, occurring as a result of mutations in the dystrophin gene.

“We conducted a complete evaluation and she was kept in home minimum therapy because of repeated hospital admissions. However, even during this period, she had to be admitted a couple of times. She was put on the organ waitlist in December 2024 and luckily she got the heart in March 2025,” said Dr Dhiren Shah, Cardiothoracic Vascular Surgeon and Director of Marengo CIMS Hospital in Ahmedabad.

Dr Shah, who also performed the transplant surgery, says her age coupled with relatively good mobility, was an encouraging factor. “This variant of DMD, neuro- physicians said, is very slow progressing in Seema because most other patients, by the age of 20 years, are wheelchair bound or have lost their lives before reaching the age of 25 years. But this woman is still living a normal life, she still has 15-20 years of life ahead of her. That is why we decided to take up her case.”

Due to lack of awareness not just among the public but also among doctors, it is rare to see people actively going for genetic testing before marriage, and before conceiving, and unless they have one child who has suffered or died due to a genetic disorder.

“Once a child is diagnosed with a rare disease, and the mother comes with another pregnancy, we carry out the exome sequencing to see if the foetus has the same mutations, using amniotic fluid. We inform the parents either way so that they can make an informed decision of wanting to continue or terminate the pregnancy,” said Dr Pritti Priya, Assistant Professor and Head of the Genetics Lab at the IKDRC in Ahmedabad. However, doctors have also seen couples lose several children to rare diseases before they are advised to go for genetic testing.

Dr Priya said, “In the case of a migrant worker couple from Jharkhand, who had already lost four children within the first year of their births to Thalassemia, they had gone to the hospital to abort the fifth pregnancy. When doctors decided to test the foetus, it turned out to be a carrier (with one mutation), instead of homozygous (inheriting one mutation each from both parents), so they didn’t need to terminate the pregnancy. The woman subsequently gave birth to a healthy child, which would not have been the case had there not been genetic testing available at the hospital.”

Thalassemia: Most preventable rare disease

“In 2018, after having a child who seemed healthy for eight months, my daughter’s health declined. We never knew that my husband and I were both Thalassemia minor (carriers). We realised something was wrong only when my daughter became yellow within a month of her birth. We thought she had contracted jaundice but when we conducted testing, we found out she suffered from Thalassemia,” said 27-year-old Payal, whose husband is a businessman in Dahod.

In 2020, Payal and her husband came to Ahmedabad for prenatal testing during their second pregnancy. To their relief, the foetus was found to be just a carrier or Thalassemia Minor patient. Born during the Covid lockdown, their daughter will complete 5 years now. As of September 2025, Payal has just completed the first trimester of her third pregnancy. She just underwent prenatal testing and is now awaiting the results with hope.

Dr Vishwas Amin, the Executive Director of Red Cross Ahmedabad said, “We can convince parents to prevent the birth of Thalassemia major children and prevent lifelong stress to them and constant blood transfusion to the child across their lifetime.” The Red Cross Ahmedabad itself has 1,250 registered Thalassemia major children and of these, 600-800 children get blood transfusion at the Red Cross per month.
Speaking about their project, Dr Amin said, “We began our testing outreach in 2007-08 in Ahmedabad’s Sanand taluka. We tested the expectant mothers and if the results came positive for Thalassemia minor, we tested their husbands also. If both were carriers, we conducted PND of foetus and prevented the birth of four Thalassemia major children out of 6,500 pregnant couples. Today, this testing is mandatory in the state. Till date, we have prevented 650 such births by screening and counselling.”

Founder of FRIGE Institute of Human Genetics Dr Jayesh Sheth says, “Impetus must be given to awareness regarding prenatal diagnosis”

Dr Sharda says “Unfortunately, when a couple loses their child, they start looking for options on what they can do to prevent genetic diseases after six months or so. Then we have to do genetic screening of the couple. When we don’t have samples from the first child, it becomes difficult to know about the disorder. We lose initiative in narrowing down on the affliction that could be in the current foetus.” She notes that to-be parents go for testing at 12-13 weeks of pregnancy which makes it tougher. “We don’t know what to test because humans have 20,000 genes, 5,000 disorders, we can’t test for everything in the foetus. We focus on really lethal diseases, if the child may not survive after birth or will require critical surgery or will put a significant financial burden on the family. Then a decision is taken because the woman has to carry the child and if they are going to die in some months or a few years, prenatal diagnosis is to avoid such situations”, she says.

The prohibitive cost

Founder of FRIGE Institute of Human Genetics Dr Jayesh Sheth says, “Impetus must be given to awareness regarding prenatal diagnosis, carrier screening and family counselling to make sure that two carriers of the same rare diseases genes do not marry and if they marry, then go for prenatal diagnosis to make an informed choice.”

However, in many cases, genetic testing may not be carried out even if there is ample medical cause, due to the cost of the tests which can be between Rs18,000 and Rs 24,000.In one such case, a couple from Rajasthan who had lost one child to complications, declined testing due to financial constraints in the second pregnancy which also resulted in the child dying within a month of birth. They were given the choice to terminate the third pregnancy after they got tests done and they finally welcomed a healthy child in the fourth attempt. In their first pregnancy, the child was born and had to be operated for intestinal obstruction within a month. The child died a few days later due to infection.

The 23-year-old again visited the hospital during her second pregnancy. This time, the ultrasound showed echogenic bowel loops, suggesting abnormality. When advised for a mutation study, the couple refused due to financial constraints. The female child was born at term and on the sixth day of her life, the ultrasound showed proximal ileal atresia, a congenital abnormality. After a month she was operated upon but died after two months due to septicemia.Dr Pritti Priya said the couple sought a mutation study done for the second deceased child. The test found homozygous mutations for Cystic Fibrosis. The test could only be carried out because the child’s DNA had been preserved by the doctors through biobanking. The couple was also counselled about the risk of having another affected foetus in a future pregnancy. During her third pregnancy PND was carried out and the result, unfortunately, was again positive for the same mutation. The couple opted for MTP. An autopsy of the foetus confirmed doubts about the congenital abnormality.The fourth time the PND showed that the child was only a carrier. The child was born healthy.

Hope, from the depths of despair

The Indian Express spoke to a couple from Vadodara, where 31-year-old Nina and 30-year-old Dharmesh, decided to medically terminate their pregnancy in July after doctors found a 95% chance that their child could be born with Hurler Syndrome, which is a lysosomal storage disorder wherein the body cannot break down sugar, and this causes buildup of the same, leading to deformities and a very short lifespan. After their experience, Nina and Dharmesh, both highly educated and working in complementary professions related to building construction, said that they have been telling all their friends and family to opt for antenatal and prenatal testing and in fact, get genetic testing of their partners done even before marriage, so that others do not have to go through the pain that they suffered.

Dharmesh said, “Our pregnancy was 21 weeks and 6 days. But, instead of being a happy one, it was completely spent in medical tests and waiting for results. It was only our close bonding that we tried to enjoy the experience of the pregnancy, but once all these medical tests come in, it takes an emotional and physical toll that is quite opposite to what one would expect to be a very happy time in one’s life. That’s why it’s advisable to carry out genetic testing before conceiving so that you know what’s coming and are prepared for it.”

When asked how their experience is likely to shape their family planning in the future, Nina said, “It’s just been two months since we went through all of this. And everyone tells us that we are very strong. But this has impacted us a lot and I start crying suddenly at times. But the support of my husband and family has helped a lot. In the end, we had to think about it practically and not emotionally. Our decision would have affected the child. We are now in the zone where we have been guided by God. Now, doctors have advised us to wait for six months. But we are taking it slowly, focussing on our work and taking one day at a time.”

(*Names of all patients have been changed)