Family members' opinions and knowledge should guide policy statements about the care of children with trisomy 18, according to research by Kosho et al (p. 1531, DOI 10.1002/ajmg.a.35990).

Children with this syndrome typically are born with profound psychomotor disability and complications in cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal, sensory, and visual systems, and tumor susceptibility. Research has shown these children have a median survival time of 3 to 14.5 days, but up to 10% survive the first year of life.

In this second support group-based study from Japan, where intensive treatment for children with trisomy 18 is now recognized as a reasonable option of management, researchers outlined the natural history of the condition and experience with it as described by parents of 65 children with the disorder.

Parents described typical major malformations and severe complications. More than half (57%) of the mothers delivered by Cesarean, while one-third of the families were offered intensive treatment. Nearly half (45%) of the children received intermittent mandatory ventilation, and half of them were weaned. Some 45% of the children were discharged home after the first hospitalization. In all, 29% survived one year, achieved some psychomotor milestones, and appeared to interact with their families.

Parents who have received a prenatal diagnosis of trisomy 18 should be greeted with empathy by healthcare providers, who should appreciate the fetus' value and include parents in medical decision-making based on comprehensive information about the natural history of children with the disorder. If the parents choose intensive management, healthcare providers should involve parents in sincere discussion about treatment frequently, even daily, if needed, the researchers say.


British health professionals support the future use of noninvasive prenatal diagnosis (NIPD) to detect single gene disorders, but they note the need for ongoing education, training, and guidelines about use of NIPD for this purpose, according to a study by Hill etal(p. 1612, DOI 10.1002/ajmg.a.35972).

To determine health professionals' opinions of NIPD and guide development of infrastructure required for its implementation,researchers held focus group discussions with 17 health professionals and one-on-one interviews with 30 more.

Participants welcomed NIPD because it is a simple blood test carrying no risk of miscarriage and can be administered early in pregnancy. But, they raised a number of concerns, which the researchers address in their recommendations.

Specifically, they suggest that these tests not be introduced until they're proven to be accurate by an accredited validation process, or offered as part of routine prenatal care. To ensure informed choice, pretest counseling about NIPD should note implications of results, and mitigate pressure to take the test.

Additionally, researchers stress the need for educating health professionals and patients about NIPD, and add that only geneticists and appropriate specialists should administer NIPD. The researchers also suggest that testing regulations and clear guidance from policy makers and professional bodies is essential.

Figure 1.

Pretest counseling about NIPD to detect single gene disorders is essential, say researchers.


Children with neurofibromatosis 1 (NF1) have a generalized difference of bone metabolism that predominantly affects trabecular bone, according to Armstrong etal (p. 1654, DOI 10.1002/ajmg.a.36001).

People with NF1 have low bone mineralization, but the disease's natural history and pathogenesis are poorly understood. Researchers performed a sibling-matched case-control study of bone mineral status, morphology, and metabolism.

In the study, they compared 18 children with NF1 without focal bony lesions to unaffected siblings and local population controls. Bone mineral content at the lumbar spine and proximal femur was lower in NF1 patients, a difference that persisted after adjusting for height and weight, and trabecular density of the distal tibia was more severely compromised than cortical in children with NF1. Estimated bone strength and resistance to bending and stress were poorer among the children with NF1, although there was no difference in fracture frequency, the authors note.

Differences in markers of bone turnover between cases and controls did not reach statistical significance. Average serum calcium concentration was higher (although within the normal range) in children with NF1, while serum 25-OH vitamin D, and PTH levels did not differ significantly between cases and controls. Children with NF1 were less mature (assessed by pubertal stage) than unaffected siblings or population controls.