The 22q11 deletion syndrome is one of the most common human microdeletion syndromes, with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 deletion is poorly described in the literature. A national retrospective study was performed from 74 feto-pathological examinations. The objectives were to evaluate the circumstances of the 22q11 deletion diagnosis and to describe fetal anomalies. Post mortem examinations were performed after 66 terminations of pregnancy and eight fetal deaths. The series included nine fetuses from the first trimester, 55 from the second trimester, and ten from the third trimester. A 22q11 FISH analysis was recommended for 57 fetuses after multidisciplinary prenatal diagnostic counseling and for 17 fetuses by a fetal pathologist. Conotruncal heart defects were the most common anomalies (65 fetuses), followed by thymus defects (62 fetuses), and malformations of the urinary tract (25 fetuses). This study identified several unusual and severe features rarely described in the literature. Neurological abnormalities were described in ten fetuses, with seven neural tube defects and five arhinencephalies. This series also included lethal malformations: two hypoplastic left heart syndromes, two bilateral renal agenesis, and one tracheal agenesis. Genetic analysis for a 22q11 deletion is usually indicated when a congenital conotruncal heart and/or thymus defect is detected, but might also be useful in case of other lethal or severe malformations that initially led to the termination of pregnancy.
Objective: The aim was to study the predictive value and feasibility of fetal scalp lactate microsampling in the management of non-reassuring fetal status during labor. Methods: A prospective observational study was conducted on cord blood gas samplings from 7,617 singleton and cephalic deliveries at ≧37 weeks of gestation. In this population, 450 fetal scalp blood samples (FBS) were performed for abnormal fetal heart rate (FHR) patterns. Microvolume scalp lactate measurements were compared to scalp pH, neonatal cord blood gas parameters (pH, lactate, base deficit) and the Apgar score. Results: Scalp lactate correlated significantly with scalp pH (r = –0.56, p = 0.001), umbilical artery pH (r = –0.39, p = 0.03), umbilical artery lactate (r = 0.48, p = 0.01) and umbilical artery base deficit (r = 0.51, p = 0.01), but not with Apgar scores. Using receiver operating characteristic curves, a scalp lactate cutoff value of 5 mmol/l was the most predictive for neonatal acidosis. Sampling failure with scalp lactate was inferior to scalp pH (1.3 vs. 14%, p < 0.001). Conclusion: Lactate microsampling in fetal scalp blood was found to be an attractive alternative to pH analysis and a useful 2nd-line tool for monitoring fetal asphyxia during labor.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.