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Exome sequencing has the potential to provide molecular diagnoses in cases where conventional prenatal cytogenetic testing is negative. A referral bias of consanguineous cases could account for the high diagnostic rate for proband-only sequencing. Syndrome-specific prognostic information enables parents to make informed decisions, whereas challenges include time limitations and variant interpretation in the setting of non-specific fetal findings. As we report only established disease-gene associations, further segregation and functional studies in a research setting are expected to significantly increase the diagnostic yield. This article is protected by copyright. All rights reserved.

CMA increased detection rates and had a shorter turnaround time; therefore, late amniocentesis may serve as an extremely helpful tool for detecting abnormalities or reassuring parents following late appearing abnormal sonographic findings. However, CMA may expose uncertain findings for which the couple should be pre-counselled. The procedure appears safe. This article is protected by copyright. All rights reserved.

Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis. The fertility of BRCA carriers, however, has not been widely investigated. The aim of the present work is to review the literature pertaining to this issue.

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