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http://dx.doi.org/10.1002/ajmg.b.32110 | DOI Listing |
Medicine (Baltimore)
January 2025
Reproductive Medicine Center, Yulin Maternal and Child Health Care Hospital, Yulin, Guangxi, China.
Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.
View Article and Find Full Text PDFAm J Reprod Immunol
January 2025
Department of Public Health, Faculty of Health Science, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Background: Preeclampsia is a severe, multisystem complication that affects 2%-5% of pregnancies, and is a leading cause of fetal and maternal morbidity and mortality worldwide. Preeclampsia may have devastating results on maternal health and may affect offspring's immediate and long-term health. Previous studies have examined the impact of maternal preeclampsia on the long-term health outcomes of offspring, many of these studies have been limited by confounding factors that could bias the results.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Division of Neonatology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, the Netherlands.
Importance: Preventive efforts in pregnancy-related alloimmunization have considerably decreased the prevalence of hemolytic disease of the fetus and newborn (HDFN). International studies are therefore essential to obtain a deeper understanding of the postnatal management and outcomes of HDFN. Taken together with numerous treatment options, large practice variations among centers may exist.
View Article and Find Full Text PDFQJM
January 2025
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, 510010, China.
Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.
Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.
Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.
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