Objectives: To analyze the efficiency of prenatal diagnosis of Pierre Robin sequence (PRS) regarding the final specific diagnosis and to determine whether infants have more severe respiratory disorders with than without prenatally suspected PRS.
Methods: Review of the outcome of all prenatal cases of suspected PRS managed in our prenatal diagnosis center during the last 15 years; analysis of the consistency between prenatal and postnatal diagnoses in 2 groups of women with and without a family history of PRS; comparison of the grades of disease severity for infants with and without prenatally suspected PRS.
Results: Fifty-nine files were studied. Prenatal and postnatal consistencies of a specific diagnosis of PRS were 100% for women with a family history of PRS and with prenatally suspected nonisolated PRS. It was 78.6% for those with prenatally suspected isolated PRS. We describe 13 terminations of pregnancy. The 41 children living beyond 18 months seem to have more functionally severe phenotypes than the 227 children without prenatally suspected PRS.
Conclusion: Prenatal diagnosis of isolated PRS is a challenge as other features can be missed. Use of prenatal chromosomal microarray can improve the accuracy of diagnosis. In all cases, adequate neonatal care should be offered.
Bisphenol S (BPS) is widely used as a substitute for Bisphenol A (BPA). While perinatal BPS exposure is suspected to increase susceptibility to high-caloric diet-induced adipogenesis, how BPS affects offspring remains largely unknown. This study explored effects of prenatal BPS exposure on adiposity and insulin resistance in high-fat diet (HFD)-fed C57BL/6 offspring, revealing significant changes in body weight, glucose tolerance, insulin sensitivity, and histopathology.
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Objective: To describe postnatal outcome following the prenatal diagnosis of an abnormal fetal gallbladder.
Methods: We conducted a systematic review of studies from January 1980 to January 2023 that described FGB abnormalities, which included agenesis or non-visualisation, abnormal content presence of sludge, abnormal shape or size and abnormal position, and postnatal outcome to determine the association with pathology.
Results: In 51 studies, 842 fetuses had abnormal FGB.
To explore the relationship between ultrasound signs of suspected fetal malformation of cortical development (MCD) and genetic MCD.The retrospective study involved fetuses with one of the following 10 neurosonography (NSG) signs: (A) abnormal development of the Sylvian fissure; (B) delayed achievement of cortical milestones; (C) premature or aberrant appearance of sulcation; (D) irregular border of the ventricular wall or irregular shape of the ventricle; (E) abnormal shape or orientation of the sulci; (F) hemispheric asymmetry; (G) non-continuous cerebral cortex; (H) intraparenchymal echogenic nodules; (I) persistent ganglionic eminence (GE) or GE cavitation; (J) abnormal cortical lamination.95 fetuses were included in the study.
Sexually transmitted infection rates are increasing in the United States, with significant increases in the rates of syphilis among patients of reproductive age and, subsequently, congenital syphilis. Syphilis screening is recommended in sexually active patients 15 to 44 years of age in communities with high syphilis rates and in all pregnant patients at the time of diagnosis or prenatal intake, in the third trimester, and at delivery. Screening for chlamydia and gonorrhea is currently recommended in asymptomatic, sexually active patients younger than 25 years, as well as in older patients with risk factors.
