Researchers claim breakthrough in detecting genetic disorders pre-birth

Doctors say the procedure will eliminate potential risks before birth, and also determine if embryos of couples who have an infertility problem are free of complications.

News of the breakthrough was released by Boonsaeng Wutthiphan, an obstetrician and gynaecologist who specialises in infertility and gynaecologic laparoscopic and hysteroscopic surgery at Samitivej Sukhumvit Hospital. He said the success resulted from collaboration between public and private organisations – Samitivej, a research team at the Medical Genome Centre at Ramathibodi Hospital, plus Thailand Centre of Excellence for Life Sciences (TCELS, Leader Medical Genetics and Genomics Co (LMGG) and the Thai Reproductive Genetic Co (TRG).

Boonsaeng said the achievement was the result of five years research. NGS is regarded as an advance that will allow Thai medical services to identify genetic disorders that can be passed from one or both parents to their children.

He explained that previously hospitals could only check for thalassemia, which is the most common genetic disorder in Thailand.

At present, there are about 60,000 patients with thalassemia in Thailand (excluding carriers). Now, Samitivej and other hospitals under the Bangkok Dusit Medical Services (BDMS) can diagnose carriers of up to 600 genetic diseases.

They include 12 common genetic disorders – thalassemia, duchenne muscular dystrophy, haemophilia, amyotrophic lateral sclerosis (ALS or MND), deafness, spinal muscular atrophy (SMA), galactosemia, phenylketonuria, Glycogen storage disease, type II or Pompe Disease, Wilson disease (Copper storage in brain and liver), and fragile X syndrome.

“According to statistics, 7 in 100 people have a chance of genetic disorders or may carry genes that can be passed on to their children. The new technology will not only examine the potential risks for children, but also screen perfect embryos of couples who have an infertility problem,” Boonsaeng said.

With the new technology, there are a small number of examination stages to screen carriers before a pregnancy – examining abnormal genes in embryo cells before being implanted, in the in-vitro fertilisation process, and examining chromosome abnormalities during pregnancy.

The doctor suggested that couples can be divided into two groups for NGS examination: women aged 35 or over who want children and couples with genetic disorders or who carry genes for disease. He recommends that families with a record of genetic disorders or whose first child was born with a genetic disorder be screened before embarking on a second pregnancy.

Couples with infertility problems can also benefit from NGS. The testing can screen an embryo for genetic disease to ensure that babies are born healthy.

Examination costs to check for genetic disorders range from Bt70,000 to Bt120,000 per couple. The process takes about six weeks.