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We investigated a strategy for diagnosing autosomal recessive lethal disorders in non-consanguineous pedigrees with multiple affected fetuses.
For couples with multiple affected fetuses, most result from autosomal recessive mutations with a 25% recurrence risk for each future pregnancy.
We developed a strategy to diagnose rare autosomal recessive lethal disorders by exome sequencing in non-consanguineous couples with a history of multiple affected fetuses.
Having data for multiple affected fetuses allowed us to focus on regions of IBD2 and helped us identify compound heterozygous mutations in PI4KA as the only rare predicted deleterious variants that fitted the presumed autosomal recessive inheritance pattern.
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However, not all fetuses are affected, and affected fetuses can be detected using ultrasound.
This is also done when multiple nerves are being affected or when multiple affected areas see diminishing nerve function.
In this study, exome sequencing was performed on a couple and from samples from their three affected fetuses, all of whom had been terminated on account of multiple congenital abnormalities that included PMG.
Early diagnosis of pregnancies affected by Down's syndrome may result in unnecessary terminations since some of the affected fetuses would be spontaneously aborted before term.
In genetic terms, Turner syndrome is common: one-tenth of all spontaneously aborted fetuses have a 45,X chromosome constitution, and only 3 percent of affected fetuses survive to term.
The syndrome, which is ultimately fatal, can be diagnosed early in pregnancy, through amniocentesis, and most women with affected fetuses choose abortion.
We hypothesized that affected fetuses have a predisposition to arterial or venous thromboembolism.
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