Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

We report the screening of a large panel of genes in a series of 100 fetuses (98 families) affected with severe renal defects. Causative variants were identified in 22% of cases, greatly improving genetic counseling. The percentage of variants explaining the phenotype was different according to the type of phenotype. The highest diagnostic yield was found in cases affected with the ciliopathy-like phenotype (11/15 families and, in addition, a single heterozygous or a homozygous Class 3 variant in PKHD1 in three unrelated cases with autosomal recessive polycystic kidney disease). The lowest diagnostic yield was observed in cases with congenital anomalies of the kidney and urinary tract (9/78 families and, in addition, Class 3 variants in GREB1L in three unrelated cases with bilateral renal agenesis). Inheritance was autosomal recessive in nine genes (PKHD1, NPHP3, CEP290, TMEM67, DNAJB11, FRAS1, ACE, AGT, and AGTR1), and autosomal dominant in six genes (PKD1, PKD2, PAX2, EYA1, BICC1, and MYOCD). Finally, we developed an original approach of next-generation sequencing targeted RNA sequencing using the custom capture panel used for the sequencing of DNA, to validate one MYOCD heterozygous splicing variant identified in two male siblings with megabladder and inherited from their healthy mother.

Hatha-yoga as a psychological adjuvant for women undergoing IVF: a pilot study.

OBJECTIVES: To evaluate the influence of Hatha-yoga (HY) practice on distress of women before starting their first in vitro fertilization (IVF) cycle. STUDY DESIGN: We offered 143 consecutive women with couple infertility the opportunity to attend a free HY course lasting 3 months as a psychological support before starting their first IVF cycle. All women were asked to complete the State-Trait Anxiety Inventory-Y1 (STAY-Y1), Edinburgh Depression Scale (EDS) and General Health Questionnaire-12 (GHQ-12) at baseline (T1) and after 3 months (T2), to evaluate symptoms of anxiety, depression and distress, respectively. RESULTS: Of the 143 women, 120 completed all three questionnaires. Of these, 45 attended the HY course and 75 did not. At T1, EDS and GHQ-12 scores were significantly higher in the HY group than in the non-HY group. There were no group differences in STAI-Y1 scores. At T2 there were no group differences. When, in each group, the score of each questionnaire at T1 was compared to the score at T2, a significant T1 to T2 reduction was observed in the HY group (p<0.0001 for STAY-Y1 and GHQ-12, p<0.001 for EDS). CONCLUSIONS: Our data suggest that women who are more distressed are more likely to accept psychological support before starting an IVF cycle and that in these women HY practice is associated with distress reduction.