The annual rate of Down syndrome (DS) births in Jerusalem is stable, regardless of prenatal screening, and diagnostic measures. We aimed to evaluate our historical cohort for obstetrical characteristics and the neonatal course and complications. We reviewed computerized medical files of neonates with the diagnosis of DS born in the four main hospitals in Jerusalem between the years 2000 and 2010 and evaluated for maternal history and primary neonatal hospitalization. A total of 403 neonates were diagnosed with DS. The average maternal age was 35.6 years, 73% were born via spontaneous vaginal delivery. In all gestational ages, the mean birth weight and head circumference percentiles were significantly lower than the general population (P < 0.001 for both) and at each week the HC percentile was lower than the weight percentile (P < 0.0001), worse among males. Mortality during the primary hospitalization was 3.7%. The most common anomalies were cardiac (79%) with either congenital defects or functional abnormalities, neither influenced the length of hospitalization. The main reasons for prolonged hospitalization were prematurity and anomalies of other (non-cardiac) organs. Common perinatal complications included respiratory failure or need for oxygen supplementation (32%), hyperbilirubinemia (23%), sepsis (6.4%), and feeding difficulties (13%). About 84% were fed by human milk; of those, two thirds were exclusively breast-fed and one third were supplemented with infant formula. In conclusion, infants with DS were small for gestational age with relatively reduced head circumference. Despite the increased rate of congenital anomalies and perinatal complications, most infants were discharged home in good medical condition and were exclusively breastfed.

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Objective: Prenatal exome sequencing (ES) is currently indicated for fetal malformations. Some neurocognitive genetic disorders may not have a prenatal phenotype. We assessed the prevalence of prenatally detectable phenotypes among patients with neurocognitive syndromes diagnosed postnatally by ES. Methods:The medical files of a cohort of 138 patients diagnosed postnatally with a neurocognitive disorder using ES were reviewed for prenatal sonographic data. The Online Mendelian Inheritance in Man (OMIM) database was searched for prenatally detectable phenotypes for all genes identified.Results: Prenatal imaging data were available for 122 cases. Of these, 29 (23.75%) had fetal structural abnormalities and another 29 had other ultrasound abnormalities (fetal growth restriction, polyhydramnios, elevated nuchal translucency). In 30 patients, structural aberrations that were not diagnosed prenatally were detected at birth; in 21 (17.2%), the abnormalities could theoretically be detected prenatally by third-trimester/targeted scans. According to OMIM, 55.9% of the diagnosed genes were not associated with structural anomalies.Conclusions: Most patients (52.5%) with postnatally diagnosed neurocognitive disorders did not have prenatal sonographic findings indicating prenatal ES should be considered. The prevalence of specific prenatal phenotypes such as fetal growth restriction and polyhydramnios in our cohort suggests that additional prenatal findings should be assessed as possible indications for prenatal ES.

ObjectiveTo evaluate cognitive flexibility and labor and delivery outcomes.MethodsA prospective study was conducted of nulliparas with singleton term pregnancy, admitted for labor to a tertiary referral center from 1 January to 31 July, 2017. After epidural anesthesia, parturients completed the validated Psychological Flexibility Questionnaire (20 questions that evaluate a person's level of cognitive flexibility) before delivery. They were asked to grade (from 1 to 10) their hope for vaginal delivery (Hope score). Within 2 hours after delivery, they graded (1–10) the similarity between their delivery and their expectations (Expectation score). Outcomes of the flexible versus less flexible group were compared.ResultsAmong the flexible (n=120) versus less flexible (n=40) group, vaginal delivery was more common (74.2% vs 20.8%) than vacuum extraction (20.8% vs 35%) or cesarean delivery (5% vs 12.5%) (P=0.031). High Expectation score and delivery without grade III–IV perineal tear (P=0.032) were correlated. Groups were similar regarding Expectation (P=0.163) and Hope scores (P=0.591). The mode of delivery of parturients was not correlated with their mothers’ (P=0.836) or sisters’ (P=0.758).ConclusionHigh cognitive flexibility increases the likelihood of vaginal delivery. These findings support the mind–body correlation. Maternal cognitive perceptions can influence labor and delivery and should be considered when counseling patients during labor.