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MOST CANADIAN DOWN SYNDROME PARENTS SUPPORT WIDER TESTING

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  2. MOST CANADIAN DOWN SYNDROME PARENTS SUPPORT WIDER TESTING

Inglis et al (p. 743) report that a majority of Canadian parents of children with Down syndrome say they believe prenatal testing for the condition should be offered to all pregnant women, regardless of age or risk factors, as is recommended by the American College of Obstetricians and Gynecologists (ACOG).

In contrast, guidelines from the Society of Obstetricians and Gynecologists of Canada and Canadian College of Medical Geneticists don't use age as a criterion for screening, but suggest obstetricians offer testing to a small group of women with risk factors detected by prenatal screening tests, ultrasound findings, or who already have a child with a chromosomal abnormality.

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Figure 1. The opinions of parents of individuals with DS regarding to whom diagnostic prenatal genetic tests for DS should be available.

The researchers studied survey responses of 101 parents of children with DS to a survey. Slightly more than 55% of parents approved of prenatal screening, while 64.7% approved of prenatal diagnosis of DS. More than half of participants, 60.2%, agreed with the ACOG stance.

Because parents of children with DS offer a unique perspective on diagnostic testing for DS, researchers suggest their views be considered in making future testing guidelines as the trend toward physicians and patients sharing medical decisions continues.

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Figure 1 a-d. Patient 1 at the age of 2 10/12 years (a,b) and at 9 3/12 years (c,d).

Engels et al (p. 695) propose refining the phenotype map for typical clinical findings of the terminal deletion 14q syndrome to only 7 RefSeq genes.

Typical features of the syndrome include intellectual disability/developmental delay, muscular hypotonia, postnatal growth retardation, microcephaly, congenital heart defects, genitourinary malformations, ocular coloboma, and several dysmorphic signs.

The researchers report on 5 patients with terminal partial monosomy of 14q32.3 and characteristic features of terminal deletion 14q syndrome. Four of the patients carry de novo terminal deletions of 14q, 3 of which have not yet been reported. one patient carries an unbalanced translocation at der(14)t(9;14)(q34.3;q32.3).

Combining these data with a review of previously published patients and with data from the database of Genomic Variants, the researchers propose a 250 kb region critical for certain features of terminal 14q deletion syndrome. among the Refseq genes in this region are CRip2, Mta1, and tMeM121, which the researchers say are potential candidate genes for intellectual disability.

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