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Background We aimed to analyse the efficacy and added value of a targeted Israeli expanded carrier screening panel (IL-ECSP), beyond the first-tier test covered by the Israeli Ministry of Health (IMOH) and the second-tier covered by the Health Maintenance Organisations (HMOs). Methods A curated variant-based IL-ECSP, tailored to the uniquely diverse Israeli population, was offered at two tertiary hospitals and a major genetics laboratory. The panel includes 1487 variants in 357 autosomal recessive and X-linked genes. Results We analysed 10 115 Israeli samples during an 18-month period. Of these, 6036 (59.7%) were tested as couples and 4079 (40.3%) were singles. Carriers were most frequently identified with mutations in the following genes: GJB2/GJB6 (1:22 allele frequency), CFTR (1:28), GBA (1:34), TYR (1:39), PAH (1:50), SMN1 (1:52) and HEXA (1:56). Of 3018 couples tested, 753 (25%) had no findings, in 1464 (48.5%) only one partner was a carrier, and in 733 (24.3%) both were carriers of different diseases. We identified 79 (2.6%) at- risk couples, where both partners are carriers of the same autosomal recessive condition, or the female carries an X-linked disease. Importantly, 48.1% of these would not have been detected by ethnically-based screening tests currently provided by the IMOH and HMOs, for example, variants in GBA, TYR, PAH and GJB2/GJB6. Conclusion This is the largest cohort of targeted ECSP testing, tailored to the diverse Israeli population. The IL-ECSP expands the identification of couples at risk and empowers their reproductive choices. We recommend endorsing an expanded targeted panel to the National Genetic Carrier Screening programme. [ABSTRACT FROM AUTHOR]

Objectives: To assess the added value of third trimester fetal brain MRI, performed in one tertiary referral center, in cases of isolated ventriculomegaly as established by a dedicated multiplanar neurosonography. Methods: Fetal brain MRI scans performed in a single tertiary center during a 3-year period were assessed for possible inclusion. Only cases diagnosed with ventriculomegaly without additional findings in a neurosonography preceding the MRI were included. Fetal MRI was performed at a median gestational of 32 weeks (IQR 31–34 weeks). Results: A total of 68 cases met the inclusion criteria. Of them, in four cases MRI identified additional findings including three cases of intraventricular hemorrhage and one case of cortical infarction. The overall rate of MRI-findings in the study population was (5.9%, 95% CI 2.3–14.2%). No additional findings were detected in cases of mild ventriculomegaly, 6.1% in moderate and 25% in severe ventriculomegaly. The combined rate of additional findings in mild to moderate ventriculomegaly was 3.3% (95%CI 0.9–11.4%). Conclusions: MRI was able to detect additional findings in 5.9% of cases with seemingly isolated ventriculomegaly after a dedicated neurosonography. The severity of ventriculomegaly is associated with a higher chance of detecting abnormalities in fetal brain MRI. [ABSTRACT FROM AUTHOR]

The potential impact of perceived personal control on coping with a medical threat was investigated in genetic counseling, a clinical setting where issues of personal control are central. Data were collected from 72 counselees at a genetic clinic before, immediately after, and 1 month after initiating genetic counseling. Findings supported the hypothesized mediating model. Higher perceived control (cognitive-interpretive and decisional) and satisfaction with genetic counseling mediated between genetic counseling and the use of less emotion-focused coping strategies. Problem-focused coping was predicted only directly by counselees' knowledge of their problem after genetic counseling. Changes in emotion-focused coping were related to perceived increases in positive affect I month later, while changes in use of problem-focused coping were related to perceived decreases in both positive and negative affect.

Purpose: The purpose of this study is to describe the morphological characteristics of fetal MRIs and outcome of prenatally-detected abnormal width of the CSP (cavum septum pellucidum).Material and Methods: A retrospective study of cases with abnormal width of the CSP demonstrated prenatally on MRI. Data collected included: prenatal history, MRI features, sonographic follow up, and neurodevelopmental outcome.Results: Most of the cases referred (34/39) had an abnormal CSP on MRI. Thirty cases had an abnormal width: 23 had narrow CSP and seven had wide CSP. Only three out of 12 cases that were referred with US diagnosis of absent CSP were confirmed by MRI, the rest had narrow CSP. Follow up was performed in 24 out of 30 cases with an abnormal CSP width; all had normal neurodevelopment.Conclusion: To the best of our knowledge, this is the first study to examine the outcome in narrow and wide CSPs detected prenatally. An abnormal width of the CSP prenatally, without an associated fetal abnormality such as aneuploidy, appears to have normal outcome. MRI should be offered when an absence of the CSP is suspected on US to rule out narrow CSP, which seems to be a benign finding. [ABSTRACT FROM AUTHOR]

Purpose: One of the greatest challenges with the finding of adducted thumbs in the prenatal setting is the determination of whether this finding is associated with an underlying genetic syndrome. The aim of the present study is to describe the characteristics and outcome of prenatal sonographic diagnosis of adducted thumbs.Methods: A retrospective study was conducted over a period of 17 years in a tertiary referral center. All fetuses diagnosed prenatally with adducted thumbs comprised the study group. Prenatal sonographic assessment and neonatal outcome are presented.Results: Six fetuses were evaluated for adducted thumbs over the 17-year period. In three cases, the parents elected termination of pregnancy for severe associated anomalies. In one case partial resolution was observed during the third trimester. Of the remaining two fetuses, one had a single umbilical artery and in the second the adducted thumbs were an isolated finding. Post-natal evaluation in both cases revealed bilateral adducted thumbs. Apart from orthopedic follow up no further interventions were needed.Conclusions: Prenatal diagnosis of adducted thumbs should be followed by a meticulous fetal ultrasound examination combined with genetic counseling. According to our cohort, if associated anomalies are excluded, isolated cases seem to have a favorable diagnosis. [ABSTRACT FROM AUTHOR]