ライフサイエンスコーパス: trisomy 18

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1 .2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18.

2 ealthcare management plans for newborns with trisomy 18.

3 5.2 percent, and 100 percent of fetuses with trisomy 18.

4 and 68.6% (95% CI, 50.5%-81.2%; n = 29) for trisomy 18.

5 age of cells also having either trisomy 8 or trisomy 18.

6 tition have not been described previously in trisomy 18.

7 2%-26.1%) and 12.6% (95% CI, 8.9%-17.1%) for trisomy 18.

8 5) days for trisomy 13 and 9 (2-92) days for trisomy 18.

9 .4%-18.5%) and 9.8% (95% CI, 6.4%-14.0%) for trisomy 18.

10 ), gastroschisis (76%), Down syndrome (43%), trisomy 18 (61 %), and trisomy 13 (40%).

11 g identified 90.9 percent of the 11 cases of trisomy 18 (95 percent confidence interval, 58.7 to 99.8

12 Trisomies 18 and 13 were detected with sensitivities of

13 and standard screening to assess the risk of trisomies 18 and 13.

14 FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome.

15 he literature on the outcome of infants with trisomy 18 and 13 and to discuss the key themes in this

16 h to counseling families of the newborn with trisomy 18 and 13 at the time of diagnosis.

17 ctual experience of parents of children with trisomy 18 and 13 has been limited until recently.

18 which support and advocate for children with trisomy 18 and their families.

19 E OF REVIEW: At the time of diagnosis of the trisomy 18 and trisomy 13, parents and care providers fa

20 cases of aneuploidy (5 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; negative predictive va

21 cases of sex-chromosome trisomy, 44 cases of trisomy 18, and 158 cases of autosomal trisomies 2, 7, 1

22 prolonging the life of any infant/child with trisomy 18 are not defensible.

23 ease in the MTHFR polymorphism in mothers of trisomy 18 conceptuses but were unable to identify any o

24 of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edward syndrome), and one case of trisomy 13

25 least 1 in 270 pregnancies and positive for trisomy 18 if the risk was at least 1 in 150.

26 that the prognosis for infants/children with trisomy 18 is not as 'hopeless' as was once asserted.

27 omy 13 was 92 (IQR, 30.5-384.5) days and for trisomy 18, it was 205.5 (IQR, 20.0-518.0) days.

28 rns there is a slight excess of males, among trisomy 18 live borns a large excess of females, and amo

29 However, case series of patients with trisomy 18 managed with a goal of prolonging life are no

30 g; 98 [56.3%] female); and 254 children with trisomy 18 (mean birth weight, 1.8 [0.7] kg; 157 [61.8%]

31 r trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P=0.03).

32 ival recession in the primary dentition of a trisomy 18 patient.

33 earing sperm; thus, the excess of females in trisomy 18 presumably is due to selection against male t

34 the ring chromosome 4, but the trisomy 8 and trisomy 18 segregated into BLIN-4E and BLIN-4L, respecti

35 f counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC

36 evolving management of infants/children with trisomy 18, the prognosis with and without medical inter

37 om nonintervention for infants/children with trisomy 18 toward management to prolong life.

38 with trisomy 13 and 35 children (13.8%) with trisomy 18 underwent surgeries, ranging from myringotomy

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