ABSTRACT
OBJECTIVE: The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE). METHODS: Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE. RESULTS: The prevalence of HPE in high-risk pregnancies was 4.4:10 000. The alobar subtype was the most frequently encountered, with 17 cases (68%). Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Chromosomal abnormalities were detected in 11 cases (44%), the most frequent being trisomy 13 in seven cases (five alobar, one semilobar, and one lobar HPE), followed by trisomy 18 in two cases with semilobar HPE. One case of alobar HPE had 45, XX, t(18;22) (q10;q10), -18p karyotyping, and one case of semilobar HPE was associated with triploidy. Facial malformations in HPE spectrum ranged from cyclopia, proboscis, and arrhinia that were associated with the alobar subtype to hypotelorism and median cleft that were frequent among the semilobar and lobar subtypes. Associated neural tube defects were identified in 12% of cases. CONCLUSION: Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE.
Subject(s)
Chromosome Disorders/epidemiology , Craniofacial Abnormalities/epidemiology , Hernia, Umbilical/epidemiology , Holoprosencephaly/epidemiology , Neural Tube Defects/epidemiology , Abortion, Induced , Adolescent , Adult , Chromosome Disorders/diagnostic imaging , Chromosomes, Human, Pair 18 , Chromosomes, Human, Pair 22 , Consanguinity , Craniofacial Abnormalities/diagnostic imaging , Egypt/epidemiology , Encephalocele/diagnostic imaging , Encephalocele/epidemiology , Female , Fetal Death , Hernia, Umbilical/diagnostic imaging , Holoprosencephaly/diagnostic imaging , Humans , Male , Neural Tube Defects/diagnostic imaging , Pregnancy , Pregnancy in Diabetics/epidemiology , Prevalence , Translocation, Genetic , Triploidy , Trisomy 13 Syndrome/diagnosis , Trisomy 13 Syndrome/epidemiology , Trisomy 18 Syndrome/diagnosis , Trisomy 18 Syndrome/epidemiology , Ultrasonography, Prenatal , Young AdultABSTRACT
OBJECTIVE: To assess the impact of a cervical traction maneuver (Amr's maneuver) used in conjunction with active management of the third stage of labor (AMTSL) on the incidence of postpartum hemorrhage (PPH). METHOD: The present multicenter randomized controlled trial was conducted in Cairo between March 1, 2016, and June 30, 2017. Women aged at least 18 years who had singleton pregnancies and were candidates for vaginal delivery were enrolled. After block randomization, AMTSL was performed for all participants. Following placental delivery, Amr's maneuver using cervical traction for 90 seconds was carried out in the study group. The primary outcome, incidence of PPH (>500 mL blood loss) within 6 hours of delivery, was compared between the study and control groups in an intention-to-treat analysis. RESULTS: There were 852 patients randomized to the study (n=426) and control (n=426) groups. The incidence of PPH was significantly lower in the study group compared with the control group (6 [1.4%] vs 19 [4.5%]; P=0.015). Absolute risk reduction of 3.1% (95% CI 0.8-5.6), relative risk reduction of 0.32 (95% CI 0.13-0.78), and number needed to treat of 33 (95% CI 129-18) were observed in the study group. CONCLUSION: Amr's maneuver was effective in decreasing the incidence of PPH. ClinicalTrials.gov Identifier: NCT02660567.
