8 articles in Genetics & Dysmorphism
Scientists are exploring whether the heel-prick blood test that nearly every newborn already has could also look for rare inherited gene changes that raise a child's chance of cancer. A Michigan study suggests that about 1 baby in 27,000 carries such a change and goes on to develop cancer in early…
When a baby in intensive care is seriously ill and doctors suspect the cause lies in the baby's genes, reading the baby's whole genetic code can now give an answer in days rather than weeks. Three new studies from Dubai, South Korea and Greece found a genetic cause in roughly a quarter to a half of…
Some babies are born with a hip joint that is shallow or loose, a condition called developmental dysplasia of the hip. Four studies from 2025 show that European countries check babies' hips in very different ways, that early scanning found cases in time in one hospital, and that treatment started…
Newborn screening can now find X-linked adrenoleukodystrophy — a rare inherited condition that can damage the adrenal glands and the brain — in babies who look completely healthy. Three studies published in 2025 and 2026 show what happens after such a result: what screening programmes in Italy and…
Trisomy 13 and trisomy 18 are conditions in which a baby is born with an extra copy of a whole chromosome, and for decades families were told the diagnosis was simply fatal. Four studies published between September 2025 and February 2026 tell a more hopeful story: how long these children live…
Spinal muscular atrophy is a rare inherited condition that weakens the nerves controlling movement and breathing, and it was once the most common genetic cause of death in babies. Three medicines can now change its course — but they work far better when given before a baby shows any symptoms. That…
A major study in New York City tested whether reading a newborn's DNA could catch serious but treatable conditions that today's standard heel-prick test misses. In the first 4,000 babies, most families said yes to taking part, the DNA test worked almost every time, and about 1 in 27 babies had a…
When a newborn is seriously ill and doctors suspect the cause might be genetic, a test that reads nearly all of the baby's DNA can change the care that baby receives. A large 2021 study called NICUSeq followed 354 critically ill infants at five US children's hospitals and found that when doctors…