Advances in foetal medicine and transforming pergnancy care

The idea of recognising the unborn as the “tiniest human” with societal rights began in the 1970s, led by Professor Sir William Liley of Auckland, New Zealand. A pioneer, he championed the unborn and performed the first in-utero blood transfusion—a milestone that founded foetal medicine.

For centuries, the womb was hidden, with only limited views from ultrasound and little scope to detect or correct abnormalities.

Today, that world is open: foetal medicine has become a sophisticated specialty using advanced imaging, molecular diagnostics, and microsurgery. Professor Kypros Nicolaides, a foetal medicine consultant and founder of the Foetal Medicine Foundation in London, has driven research for four decades. He notes that while 98 per cent of pregnancies bring good news, the two per cent with complications now benefit from significant advances. 

Prenatal diagnosis

By analysing cell-free foetal DNA in maternal blood, genetic risks can now be assessed non-invasively during pregnancy. Dr Aparna Sharma, Professor and Unit head in the Department of Obstetrics and Gynaecology, at AIIMS, New Delhi, says this blood test can rule out up to 99 per cent of Down syndrome cases, one of the most common causes of intellectual disability among newborns. Screening can start as early as 10 weeks with just a maternal blood sample.

For detailed molecular analysis, invasive procedures like Chorionic Villus Sampling (CVS) or amniocentesis may be needed. Dr Sharma notes CVS should be reserved for select cases, particularly single-gene disorders such as thalassemia, sickle cell disease, or spinal muscular atrophy in families with a history. AIIMS performs about 100–150 such procedures yearly. The procedures, when performed correctly, have minimal risk of pregnancy loss. 

Advanced imaging

Ultrasound has evolved from a basic monitoring tool into a detailed window into the womb. Bangalore-based Dr (Major) Prakash P Iyer, a foetal medicine consultant, says technological advancements, such as improved penetration colour flow and 3D imaging, allow many anomalies to be detected early, while heart and brain abnormalities are usually identified later, around 22 weeks. Colour Doppler enhances blood flow visualisation.

AI further helps in the standardisation of imaging by automatically measuring organs, reducing operator dependency, and improving diagnostic precision, giving families and clinicians a clearer, more confident view of the developing foetus.

Foetal therapy

Professor Liley pioneered intrauterine transfusion—injecting donor red blood cells into a foetus—to treat Rh isoimmunisation, a condition where maternal antibodies destroy foetal red cells. Sensitisation often begins in the first pregnancy, with later ones at greater risk, leading to severe anaemia, jaundice, or death. Anti-D immunoglobulin prevents this complication, but limited awareness still results in pregnancy losses. These babies, however, can be saved by timely intrauterine transfusions done at specialised centres with excellent outcomes. At AIIMS, nearly 150 such procedures are performed annually—among the highest worldwide. Dr. Sharma recalls a rare case where blood was flown from Japan, saving the baby’s life. Once a fatal condition, more than 95 per cent of affected babies now survive thanks to these advances, notes Prof. Nicolaides.

Hope for twins

Twin-Twin Transfusion Syndrome (TTTS) is a life-threatening condition that occurs in identical twins sharing a placenta. Abnormal blood vessel connections cause one twin to receive excess blood—risking heart failure—while the other is left deprived, leading to anaemia. With laser therapy, doctors can seal off the problematic vessels. This intervention is particularly valuable when one twin is already in distress, helping safeguard the other, explains Dr. Sharma.

Advances

Pre-eclampsia is a pregnancy complication causing high blood pressure that can harm the kidneys and affect foetal growth. Prof. Nicolaides has developed a first-trimester predictive model combining maternal history with biophysical and biochemical markers to identify high-risk individuals; starting aspirin at 12 weeks can significantly reduce risks.

His work also addresses gestational diabetes (GDM), proposing early-risk assessment for personalised interventions. Research is ongoing on in-utero gene therapy for disorders like sickle cell disease and thalassemia, though it remains in developmental stages, complex and costly, according to Prof. Nicolaides.

The road ahead

Despite these remarkable advances, awareness about the availability of foetal therapies in India remains limited. “Too often, families reach specialised centres late in pregnancy, when fewer options are available and outcomes are less certain,” notes Dr Iyer. “Approaching the therapy centre early could greatly improve a baby’s chances of survival,” opines Dr Sharma.

The Society of Foetal Medicine in India has been creating more awareness, improving standards, and sensitising the general public and doctors to the importance of this field.

(The author is a consultant haemato-oncologist with a special interest in stem cell transplantation at Royal Wolverhampton NHS Trust, UK. He can be reached at [e-mail].)