Healing in the womb: precision fetal medicine in new era|expert interview

For years, families facing fetal birth defects had few options, often choosing termination due to uncertainty. Today, advances in maternal-fetal medicine (MFM) and genetic sequencing enable early diagnosis and treatment before birth.

At the forefront of this transformation is Professor Chen Min, a MFM expert and Director of Fetal Medicine Center at the Third Affiliated Hospital of Guangzhou Medical University. Prof. Chen believes genetic testing and fetal therapy are reshaping prenatal care for high-risk pregnancies and birth defect prevention.

Screening Before Birth

"In the past, if a fetus was diagnosed with a severe genetic disorder, families often had no choice but to terminate the pregnancy," Prof Chen says. "It was devastating. But today, we can intervene directly in the womb, or even prevent it altogether through preconception testing."

The foundation of this shift is prenatal and preconception genetic screening. Tools like non-invasive prenatal testing (NIPT) and carrier screening now help doctors detect genetic conditions early and safely. NIPT is a safe way to screen for chromosomal abnormalities using a maternal blood sample. Carrier screening identifies inherited diseases in at-risk couples before symptoms appear.

The possibilities are especially powerful for couples with a family history of rare diseases. Through preimplantation genetic testing (PGT) during in vitro fertilization (IVF), embryos can be screened before they are even implanted. This offers the potential for healthy pregnancies without the heartbreak of repeated terminations.

Earlier Intervention, Healthier Outcomes

Prof. Chen still remembers a case that stayed with him over a decade later. In 2012, a couple, both carriers of alpha-thalassemia, visited his clinic after their first pregnancy ended in tragedy.

An ultrasound examination at 12 weeks revealed a large fetal heart, which may be an early manifestation of edema in thalassemia. Chorionic villus sampling confirmed the disease of alpha-thalassemia. They chose to terminate. A year later, the same condition returned in a second pregnancy.

"Back then, our hospital didn't yet offer PGT," Prof. Chen recalls. "But we referred them to a specialist center in Guangzhou. After two cycles of PGT, they were finally able to conceive a healthy child."

"If we had access to PGT earlier, we could have spared the family years of distress," he says.

A Future Built on Prevention

MFM specialists, though still relatively rare globally, form critical multidisciplinary teams alongside obstetricians, geneticists, and fetal surgeons. Together, they offer reassurance and guidance to expecting parents facing complex pregnancies.

"Modern fetal medicine has progressed to include fetal interventions and has advanced in genetic medicine," Prof. Chen explains.

The expansion of MFM represents more than a medical breakthrough; it offers families an emotional and psychological lifeline.

"Whether it's a woman over 35 with increased risk of giving birth to a child with Down syndrome, or a couple who are both carriers of a genetic condition, early genetic screening buys critical time," says Prof. Chen.

Prof. Chen envisions genetic testing becoming a routine part of prenatal and preconception care. As science advances, so does the potential for proactive birth defect prevention. Genetic testing, especially when offered before conception or in early pregnancy, empowers families with knowledge and options. It provides a path toward healthier pregnancies and better outcomes for both mothers and babies.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.

Related Readings:

Safeguarding Fertility in the Battle Against Gynecologic Cancer | Expert Interview

From Needles to Blood Tests: Advancing Prenatal Care for Millions in China | Expert Interview