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Anomalies of the vascular system include lymphatic malformations that can cause lymphedema, or swelling in parts of the body. These anomalies arise from gene mutations that can be hereditary or occur spontaneously after conception. Research led by the Sheppard Lab at NICHD is seeking to understand the genetic causes of vascular anomalies, examine how they change over a lifetime, and identify drugs to treat them.

The Division of Intramural Research provides fundamental knowledge about the nature and behavior of living systems through basic, clinical, and population-based research.

Zebrafish are models for studying early development. Scientists at NICHD published an atlas of early zebrafish development that can serve as resource for other researchers who study development or human conditions and diseases.

Researchers developed a new method of evaluating blood from pregnant people to identify anomalies in the genes of fetuses. The new approach is more sensitive than current tests, which screen only for chromosome-level variants, such as an extra chromosome, and a small number of fetal genetic variants. It is also less invasive than current methods, which often involve inserting a needle into the uterus to retrieve fetal cells for analysis.

Two-year-old children showed no benefits from their mothers receiving antibodies that target cytomegalovirus (CMV) during pregnancy compared to those whose mothers received a placebo. Findings from this follow-up study were similar to the original, which also found no differences. Full effects of CMV infection during pregnancy may not appear until a child is two years old.

Children with creatine transporter deficiency, a hereditary developmental disorder, have higher levels of three proteins that are also found in people with Alzheimer’s disease, according to a small study by researchers at NIH and other institutions. The higher the level of proteins, the lower the children scored on a test of coping behaviors and skills. These findings may help inform diagnostic approaches for the transporter deficiency disorder.

Researchers at NIH have discovered that mutations in the gene SPIN4 cause a rare overgrowth disorder in people.

Findings from study highlight importance of preconception health for fathers.

On average, scores on development tests were lower for infants born earlier in the range of a term pregnancy—from 37 to 41 weeks—than for those born later in the range, suggests a study by researchers at the National Institutes of Health. The slight difference in scores, first apparent at eight months, persisted through age seven. The findings may have implications for current practice guidelines recommending induction of labor for non-medical reasons at the 39th week of pregnancy.

Read about NICHD’s research findings and activities from 2021.

Dr. Grewal has been acting director of the division since February 2020.

Receiving detailed genomic information on their newborn’s potential risks for childhood and adult diseases does not appear to cause distress or anxiety among parents, suggests a study funded by the National Institutes of Health. The findings could help to allay concerns that routinely sequencing newborn genomes to obtain information about their long-term health prospects may be too stressful for families.

2020 was a year filled with many challenges. NICHD remained focused on our core mission, advancing key research in women’s health, reproductive science, rare childhood diseases and many more. Watch the video below and review our research highlights of 2020.

The National Center for Medical Rehabilitation was established in 1990 through the landmark Americans with Disabilities Act.

Children with birth defects have a higher risk of cancer than children without birth defects. Now, researchers funded by the National Institutes of Health have found that children conceived through in vitro fertilization—who have a higher risk of birth defects than children conceived naturally—also have a commensurately higher risk of cancer than naturally conceived children with birth defects.

Our National Center for Medical Rehabilitation Research has advanced the field with significant achievements over the past 30 years that have improved the health, independence and quality of life of people with disabilities.

Intramural Group Wins Microphotography Prize

Researchers funded by the National Institutes of Health have used a rapid DNA sequencing technique to identify gene variants in roughly a third of cases of nonimmune Hydrops fetalis (NIHF), a serious condition in which a fetus develops fluid buildup inside the abdominal cavity, lungs, or other parts of the body. The findings suggest that the DNA sequencing technique, known as exome sequencing, could be used to provide information unavailable with current genetic testing methods.

The pandemic reinforces why the NIH INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project matters to families and communities.

NIH announces funding for three centers for collaborative research on Fragile X syndrome, the most common inherited form of intellectual and developmental disability, and related conditions.