[Effect of maternal genetic heterozygosity]

Area of Science:

• Reproductive Medicine
• Medical Genetics
• Maternal-Fetal Medicine

Context:

• Investigating the impact of maternal genetic factors and conditions on pregnancy outcomes.
• Examining obstetrics histories, including deliveries, abortions, perinatal mortality, and congenital malformations.
• Focusing on women with phenylketonuria (PKU) gene heterozygosity, latent diabetes mellitus (LDM), and Dushenne's myopathy (MD) heterozygosity.

Purpose:

• To determine the pathogenic effects of specific maternal genetic conditions on pregnancy and fetal development.
• To compare the risks associated with PKU gene heterozygosity, LDM, and MD heterozygosity.
• To analyze the timing and frequency of adverse pregnancy outcomes in these maternal groups.

Summary:

• Maternal PKU gene heterozygosity is linked to increased spontaneous abortions (SA) and congenital malformations, primarily in the first trimester.
• Women with LDM exhibit significantly higher rates of stillbirths and early newborn mortality, with pathogenic effects throughout pregnancy.
• Maternal heterozygosity for Dushenne's myopathy (MD) was not found to be pathogenic for the progeny.

Impact:

• Highlights the differential risks of PKU heterozygosity and LDM during pregnancy, informing clinical monitoring and genetic counseling.
• Suggests distinct pathogenic mechanisms for PKU gene heterozygosity and LDM impacting fetal development.
• Provides evidence that MD heterozygosity in mothers does not pose a significant risk to offspring development.