New Tech Helps At-Risk Couples Ensure Their Kids Don't Inherit Their Illnesses

To be born with the right genes used to be a blessing. But thanks to technological advances, it is possible today for at-risk couples undergoing in-vitro fertilisation (IVF) to have their embryos subjected to genetic screening before being implanted in the womb. This way, the couple will know the child doesn’t have any genetic or chromosomal defects.

A Dr. shared a case study. Two partners – both carrying the genes for thalassemia, a life-limiting blood disorder – had tried to have a baby thrice but failed. The first two pregnancies had to be medically terminated after doctors diagnosed the foetuses with thalassemia and the third was a miscarriage.

Doctors then advised the couple to undergo IVF followed by pre-implantation genetic diagnosis (PGD). Two IVF cycles later, they had six embryos at the day-5 stage. An embryologist performed biopsies and sent the cell samples to a genetic lab to be analysed; the embryos were kept frozen. When the results arrived, they showed three embryos were ‘normal’ and three had inherited the genes for thalassemia. So doctors transferred the ‘normal’ embryos to the womb. Later, an amniocentesis confirmed that the child did not have thalassemia, and the mother delivered a healthy baby.


A diagram illustrating how IVF works: After ovulation, the egg is collected from the woman’s reproductive organs, fused with sperm and the resulting fertilised ovum is reinserted into the uterus. 

“Any additional embryos that are free of genetic problems are kept frozen for possible use later while embryos with problematic genes are destroyed,” the Dr.  said.

“PGD enables identification of genetic defects in the early embryo before the embryo is transferred to the uterus in an IVF program,” the head of the department of reproductive medicine explained.

The founder and scientific director  said that, “according to the Human Fertilisation and Embryology Authority, UK, PGD has been approved for testing over 600 genetic conditions.”

There are “numerous tests,” in Dr.’s words, that enable PGD. For example, scientists developed PGT-M – pre-implantation genetic testing for monogenic defects – to prevent the birth of a baby with genetic defects “when the previous baby was affected” or when the parents have “a history of inheritable disease in the family.”

Another kind is PGT-A, where the ‘A’ stands for aneuploidy, a condition where the body’s cells don’t have the normal number of chromosomes, 46. This gives rise to chromosomal disorders like Down syndrome. In PGT-A, embryos from parents presumed to be ‘chromosomally normal’ are screened to check whether the cells in each embryo contain 46 chromosomes. Such screening is called pre-genetic screening (PGS).

“At present, PGS and PGD are the only options available to parents trying to avoid the risk of having a child affected with a genetic disease, prior to implantation,” Dr. added.

PGD has been gaining traction of late. “Screening the embryo for possible life-threatening and debilitating genetic diseases before transfer changes reproductive options for families at risk,” the Dr.  told. “In some cases, further testing is needed during pregnancy to ascertain if a genetic factor is still possible.”

But “overall, PGD has been able to diagnose genetic defects with approximately 98% accuracy,” she added.

This is the result of major advancements in the last three decades, such as being able to visualise specific chromosomes using fluorescence in situ hybridisation, to produce thousands of copies of a DNA fragment using the polymerase chain reaction, and to profile genomes rapidly using next-gen sequencing (NGS).

This isn’t to say the procedure is entirely free of issues. For example, according to a review published by the American Society for Reproductive Medicine (ASRM) in 2017, IVF embryos sometimes have a condition called mosaicism – where all cells in the embryos don’t have identical sets of chromosomes. When these abnormal cells proliferate, it could result in a miscarriage or severe birth defects.

However, Dr. said, “Techniques like NGS have allowed for very high-fold coverage,” allowing scientists to detect “even low levels of mosaic mutations” and ensure only the healthiest embryos are transferred. In general, according to the review, NGS can eliminate mosaic cells when they make up fewer than a fifth of all cells in the embryo but fail when the extent of mosaicism crosses 50%. In the latter case, the embryo is deemed aneuploid and discarded.

According to Dr., the most frequently diagnosed disorders include those of blood and muscles, and other rare conditions such as cystic fibrosis, beta thalassemia, sickle-cell disease, spinal muscular atrophy, myotonic dystrophy, haemophilia A and Duchenne muscular dystrophy.

Since the requisite testing facilities aren’t widely available in India, results can take up to three weeks to arrive. But this hasn’t put people off from opting for it, especially since the procedure seems safe. According to the Centre for Advanced Reproductive Services, Connecticut, there has thus far been no increase in the rate of congenital abnormalities or pregnancy complications due to embryo biopsies.
Nonetheless, Dr Natarajamani hopes that non-invasive techniques will replace biopsies soon, given the inescapable risk the latter procedure carries in some cases.

Then there are the potential ethical issues. However, the Dr. is quick to defend PGD and draws a line between PGD and PGS as well as other, more morally fraught practices.

“PGD is clearly and absolutely indicated in certain circumstances, like in couples with a previous child with abnormalities, with a family history of abnormalities, etc.,” he said. “The debate is only about routine screening of all embryos, as in PGS, before embryo transfer or when [the technique] is used to identify the sex of the embryo.”

In his telling, the doctors’ decisions aren’t arbitrary but are guided by the recommendations of bodies like the ethics committee of the ASRM. For example, in an opinion published last year, entitled ‘Disclosure of sex when incidentally revealed as part of … PGT’, this committee reached the following conclusion:

“When patients undergo [assisted reproductive therapy] and PGT for medical reasons, embryo sex could be a common secondary finding. Patients should be informed of this possibility before undergoing PGT. Patients have the right to information about an embryo’s sex, as well as the right to request not to be given this information. Clinics may have policies not to take an embryo’s sex into account in making transfer decisions. Clinics must have nondiscrimination policies regarding embryo transfer when the sex of the embryo is known. Patients should be informed about these policies.”

Indeed, all genetic labs in India are required to follow guidelines set by the Pre-Conception and Pre-Natal Diagnostic Techniques (Prohibition Of Sex Selection) Act 2003.

The Dr. has no doubts: “PGD is an amazing technology and the application of next-gen sequencing [has been] a game-changer. It will reduce the incidence of genetic diseases and complications [associated with] multiple births.” She added that many IVF centres around the world have also been able to achieve “fantastic birth rates” after transferring “only one genetically normal embryo” into the womb.

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Frozen embryos as good as fresh ones in IVF pregnancies

The success rate of frozen embryo transfers for in vitro fertilization (IVF) is almost the same as, or even better than, those using fresh ones, researchers said on Wednesday.
"Frozen embryo techniques are growing in popularity in fertility clinics worldwide," lead author said in a statement.
"This is one of the reasons why our research is important for fertility clinicians and researchers, and of course couples who are hoping to have a child," said one of the doctors.

The study investigated almost 800 women who had infertility not related to polycystic ovarian syndrome (PCOS), a common health problem caused by an imbalance of reproductive hormones that can lead to infertility.
Women in the study were given one cycle of IVF, where either a transfer of fresh embryos occurred, or all embryos were frozen and one cycle of thawed embryos occurred subsequently without the use of IVF drugs.
After the first completed cycle of IVF, ongoing pregnancy occurred in 36 per cent of women in the frozen embryo group, and in 35 per cent of the fresh embryo group.
Rates of live birth after the first embryo transfer were 34 per cent in the frozen embryo group, and 32 per cent in the fresh embryo group.
"Previous research has shown that women who experience infertility because of PCOS benefit from significantly higher live birth rates from frozen embryos in IVF procedures," said the Dr.
"This new study shows that infertile women not suffering from PCOS have equivalent live IVF birth rates from frozen embryos, which is important news for infertile women worldwide," he said.

"Our key finding is that freezing embryos for IVF is not harming a couple's chances of having a baby. After the first fresh embryo transfer, it will be possible to freeze the remaining embryos and transfer them one by one, which is safe and effective."

The researchers noted that their results are specific to a common freezing method known as Cryotech vitrification, so it may not apply to all embryo freezing techniques currently being used.

Additionally, couples concerned about unnecessary costs of freezing all embryos do not need to go down that path since fresh embryo transfer will still have the same live birth success rate, they added.

THIS IS ONLY FOR INFORMATION, ALWAYS CONSULT YOU PHYSICIAN BEFORE HAVING ANY PARTICULAR FOOD/ MEDICATION/EXERCISE/OTHER REMEDIES.    
 
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A Fatal Blood Disorder Was Fixed in an Embryo Using Precision Gene Editing

In the wake of the first gene-edited embryo being created earlier this year, researchers have employed a different technique to swap a single base in a human embryo's genome.

The precise edit was designed to return functionality to a gene responsible for a component of hemoglobin, which in its mutated form results in an often fatal blood condition called beta-thalassaemia.

A team of researchers used what's called a base editor technique to change a single G back to an A in the DNA code of an embryonic cell's HBB gene.

The change might have been tiny, but in its mutated form HBB can't produce the protein beta-globin needed to build the oxygen-carrying hemoglobin for our red blood cells.

A shortage of hemoglobin means a shortage of oxygen, impeding growth and development and leading to a lifetime of blood transfusions to treat anaemia – if the embryo survives at all.

Beta-thalassaemia is usually a recessive condition, meaning both parents need to contribute a copy of the mutated gene for anaemia to develop in their child.

Correcting the mutations in this gene could help parents carry an embryo to term, or remove the trait from family lines.

About 400 different kinds of code-corruptions can affect HBB.

In this case, the researchers focused on a single point-mutation that targets a base called cytosine (C) and exchanges it for one called thymine (T).

Each of these letters complements the other two kinds of base – thymine is a jigsaw-puzzle piece that matches adenine (A), while cytosine matches guanine (G).

By swapping a C for a T, the mutation should revert back to the proper 'A' code.

If this base editing technology seems unnecessarily complicated, there's a good reason for doing a genetic do-si-do – it means the strand of DNA isn't being snipped all the way through.

To test if the procedure was feasible, the team created a cell line with pieces of the gene embedded inside and then used two different base editing techniques to change the code.

Satisfied the editing could be done, they took the process to the next level and edited the gene in skin cells from a beta-thalassemia patient.

Researchers transferred the nucleus of the patient's skin cells into 30 mature oocytes – or human egg cells.

One of the techniques was then applied to the 26 cells that survived the cloning procedure, which successfully turned the G to an A in 9 of the embryos, and a G to a C (cytosine) in one.
None of the embryos were developed further or implanted.

Gene editing has been big news in recent years with advances in the application of a technology called CRISPR, which uses enzymes found in bacteria to chew up DNA at a specific location.

Applying this kind of corrective genetic surgery to human embryos could spell an end to a variety of inherited conditions, but so far efforts have been controversial, to say the least.

Questions have developed  recently on whether or not the technology produces unwanted mutations, indicating that for all of its promise, it's still early days for this revolutionary engineering tool.

Base editing won't replace CRISPR, but could be a more delicate solution for those solitary mutations.

"We are the first to demonstrate the feasibility of curing genetic disease in human embryos by base editor system," researcher said.

Feasibility is the word here. We're nowhere near a safe operating procedure for repairing genes we consider broken in embryos.

But each careful step, coupled with healthy public debate, brings us a bit closer to an age when debilitating conditions like beta-thalassemia will be notes in a medical history book.

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Research gives hope for people with facial, head deformities

A recent research substantiates that calcium plays a major role in regulating the cells that are responsible for bone growth and the finding could affect treatment for people with head and facial deformities.

Especially when the conditions is caused by too much collagen deposition, such as fibrosis and excessive scarring, as well as diseases of too little bone growth, such as Treacher Collins Syndrome (TCS). 

The finding by Michael Rape and his team at the University of California, came from study of the signals that tell undifferentiated stem cells in the very early embryo to mature into bone cells.

In the craniofacial disorder TCS, for instance, the embryo does not form a structure called the neural crest, from which the jaws, inner ear and numerous other bones in the head and face develop.

As a result, people like Francis Smith, a 41-year-old researcher, who visited Rape, required dozens of surgeries during childhood to reconstruct the face, implant hearing aids and even reconstruct the trachea to breathe normally.

The researchers hope that basic research to pinpoint the key signals that trigger proper bone growth can help those like Smith avoid such painful surgeries.

One option could be the implantation of a biodegradable matrix seeded with bone cells called chondrocytes, which would then be stimulated to release collagen, the blueprint for bone growth.

The new findings suggest that stimulating collagen release with calcium would also trigger proper bone growth.

"You would basically add calcium to cells on those support structures, which is fairly easy, and motivate chondrocytes to secrete the collagen that is needed to build a bone structure on top of that support would be exciting but it is very much in the future.

Nevertheless, this might become a possibility the more we understand about how cells make their decisions," Rape said.

The finding also explained how messing with the body's calcium levels during pregnancy can cause facial deformities such as those associated with fetal alcohol syndrome.

The findings were published in the journal Cell.

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Pregnant women with weak thyroid 4 times likelier to have autistic kids

 A new study has claimed that pregnant women, who are unable to make nearly enough thyroid, are nearly 4 times more likely to produce a autistic child.

The link emerged from a study of more than 4,000 Dutch mothers and their children, and it supports a growing view that autism spectrum disorders can be caused by a lack of maternal thyroid hormone, which past studies have shown is crucial to the migration of foetal brain cells during embryo development.

Lead author , a neurologist and neuroepidemiologist , said that it`s increasingly apparent to us that autism is caused by environmental factors in most cases, not by genetics.

The researchers also found that autistic children had more pronounced symptoms if their mothers were severely deficient for T4, also called thyroxine.

Mild T4 deficiencies in mothers produced an insignificant increase in autistic children`s symptoms.

The most common cause of thyroid hormone deficiency is a lack of dietary iodine - because both the thyroid hormones, T3 and T4, contain that element.

The present work was based on the Generation R Study, conducted by (Rotterdam, Netherlands) doctors and social scientists, in which thousands of pregnant women were voluntarily enrolled between 2002 and 2006.

Blood was withdrawn from the mothers at or around 13 weeks into their pregnancies to measure levels of T4 and two proteins that could indicate the cause of thyroid deficiency.

Six years later, mothers were asked to describe the behavioral and emotional characteristics of their children using a standardized psychology checklist.

Researchers identified 80 "probable autistic children" from a population of 4,039 -- a number consistent with the Dutch rate of autism spectrum disorders. 159 mothers were identified as being severely T4 deficient (defined as having 5 percent or less of normal T4, but producing a normal amount of thyroid stimulating hormone), and 136 were identified as mildly T4 deficient.

The researchers found a weak association between mild T4 deficiency and the likelihood of producing an autistic child, but a strong association between severe T4 deficiency and autism (3.89 more likely, as compared with mothers with normal thyroid hormone).

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Radiation exposure affects sperm quality

Long-term exposure to radiation at the workplace may play 

havoc with your sperm quality, says a new research.

.

A team of fertility experts, analysed sperm quality of 83 men 

working for three to 18 years in diagnostic or radiation units 

at various hospitals.

The results were compared with 51 men, also working in 

hospitals with a similar lifestyle but not exposed to radiation.

The men's semen quality was tested for sperm number, 

vitality, shape and its DNA quality. The amount of radiation 

absorbed by health workers was also correlated with sperm 

quality.

The researchers found more abnormal characteristics in the 

sperm of men exposed to the radiation, such as decrease in 

sperm motility, altered shape and vitality.

Sperm motility is the ability of sperm to swim properly 

towards an egg, a factor in successful fertilisation and 

pregnancy.

More importantly, researchers found that sperm DNA quality 

was severely compromised in workers exposed to high 

radiation dose. Several abnormalities correlated with the 

number of years of radiation exposure.

"If the sperm DNA is not maintained in a right manner, it 

could impact the next generation's health,".

"Human testicles produce millions of sperm cells daily, out of  

which only one sperm fuses with egg and makes the embryo. 

The genetic material (DNA) is tightly packed in the sperm 

cell, susceptible to damage," said a researcher.

"A little damage is normal, as is seen in the sperm of fertile 

men. But if the damage reaches high levels it can lead to 

problems. The mature sperm has no capacity to repair the 

damage and if such sperm cell fertilizes the egg, the damage 

can be transmitted to the resulting embryo and baby,"he said.

"Animal studies have shown serious consequences in the 

offspring when DNA-damaged sperm fertilizes the egg," he 

added

.

"Though we did not find increased incidence of infertility and 

miscarriages in these workers, the genetic and epigenetic 

abnormalities observed in the sperm are serious concerns," he said.

Epigenetic abnormalities are abnormalities induced by the 

effect of environment on the expression (functioning) of 

genes, which in this study refers to the prolonged exposure 

to radiation.

He pointed out that the sperm DNA could be damaged by 

factors such as smoking, environmental toxic materials, 

chemicals, lifestyle and lately by radiation, as their research 

revealed.

"This is an important observation and there is a need to 

review our exposure protocols and make sure that the health 

of professionals and their children are not compromised."

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