Neonatologist at the Well-Child Clinic: A High-Risk Infant Follow-up Pilot Study.

OBJECTIVE: High-risk infant follow-up (HRIF) is a complex process lacking standardization. We present a simple, single-provider model that proved effective and is well-received by caregivers. STUDY DESIGN: In this study, we measured caregiver use and satisfaction with an HRIF visit attended by an experienced neonatologist in a well-care setting, soon after discharge. RESULTS: One hundred parents participated in the survey. Among the infants of these parents, 78% of infants were seen in the first 3 months of life and 39% within 1 month of discharge. Nutrition (98%) and development (97%) were the most commonly discussed topics, followed by general health (95%), iron supplementation (93%), and head size (90%). Using a 5-point Likert's scale, with 5 being the highest rating, parents responded that the meeting answered their questions (4.7, n = 93), organized their infants' needs (4.6, n = 90), and increased their confidence in caring for their infants (4.65, n = 92). CONCLUSION: HRIF with an experienced neonatologist is an effective means of increasing parents' understanding of their infants' medical needs and confidence in caring for their infants. KEY POINTS: · Meeting with a neonatologist after discharge addressed many crucial aspects of patient care.. · Meeting with a neonatologist after discharge was met with a high level of caregiver satisfaction.. · Neonatal consultation in the community may promote caregiver confidence in caring for their infant.. · Neonatal consultation reduced parental anxiety, especially regarding growth and development..

Neonatal intensive care admission for term neonates and subsequent childhood mortality: a retrospective linkage study.

BACKGROUND: Neonatal intensive care unit (NICU) admission among term neonates is a rare event. The aim of this study was to study the association of the NICU admission of term neonates on the risk of long-term childhood mortality. METHODS: A single-center case-control retrospective study between 2005 and 2019, including all in-hospital ≥ 37 weeks' gestation singleton live-born neonates. The center perinatal database was linked with the birth and death certificate registries of the Israeli Ministry of Internal Affairs. The primary aim of the study was to study the association between NICU admission and childhood mortality throughout a 15-year follow-up period. RESULTS: During the study period, 206,509 births were registered; 192,527 (93.22%) term neonates were included in the study; 5292 (2.75%) were admitted to NICU. Throughout the follow-up period, the mortality risk for term neonates admitted to the NICU remained elevated; hazard ratio (HR), 19.72 [14.66, 26.53], (p < 0.001). For all term neonates, the mortality rate was 0.16% (n = 311); 47.9% (n = 149) of those had records of a NICU admission. The mortality rate by time points (ratio1:10,0000 births) related to the age at death during the follow-up period was as follows: 29, up to 7 days; 20, 7-28 days; 37, 28 days to 6 months; 21, 6 months to 1 year; 19, 1-2 years; 9, 2-3 years; 10, 3-4 years; and 27, 4 years and more. Following the exclusion of congenital malformations and chromosomal abnormalities, NICU admission remained the most significant risk factor associated with mortality of the study population, HRs, 364.4 [145.3; 913.3] for mortality in the first 7 days of life; 19.6 [12.1; 32.0] for mortality from 28 days through 6 months of life and remained markedly elevated after age 4 years; HR, 7.1 [3.0; 17.0]. The mortality risk related to the NICU admission event, adjusted for admission diagnoses remained significant; HR = 8.21 [5.43; 12.4]. CONCLUSIONS: NICU admission for term neonates is a pondering event for the risk of long-term childhood mortality. This group of term neonates may benefit from focused health care.

Assessment of maternal GBS colonization and early-onset neonatal disease rate for term deliveries: a decade perspective.

Objective To assess the maternal group B streptococcal (GBS) colonization rate and neonatal early-onset GBS (EOGBS) disease in term deliveries, a decade apart. Methods This was a retrospective computerized study between 2005 and 2016. A universal GBS culture-based approach gradually replaced the GBS risk-oriented screening. A vaginal-rectal culture taken at 35-37 weeks was recorded at admission for delivery. Results We identified 149,910 term deliveries during the study period. GBS status was recorded in 53,879 (35.9%) cases. The GBS screening rate constantly increased from 20% in 2005 to 47.5% in 2016. GBS colonization rates significantly decreased, from 50.3% in 2005 to 31.7% in 2016, P<0.001. Overall, EOGBS disease was diagnosed in 37 term neonates (0.25 per 1000 live births.). The rate of EOGBS in neonates decreased dramatically from 0.361 per 1000 deliveries between 2005 and 2009 to 0.19 per 1000 deliveries between 2010 and 2016 (P<0.05). During the latter period, over 35% of the deliveries were screened for GBS. Remarkably, 64.9% of the EOGBS originated in the non-screened population. Conclusion The universal screening policy was associated with a significant decrease in neonatal EOGBS and therefore should be adopted. Further national surveillance studies should be performed in order to validate this approach.

Ethical Dilemmas in Neonatology - Four Theoretical Cases and Three Monotheistic Approaches: A Pilot Study.

BACKGROUND: Israel's population is diverse, with people of different religions, many of whom seek spiritual guidance during ethical dilemmas. It is paramount for healthcare providers to be familiar with different religious approaches. OBJECTIVES: To describe the attitudes of the three major monotheistic religions when encountering four complex neonatal situations. METHODS: A questionnaire related to four simulated cases was presented to each participant: a non-viable extremely premature infant (case 1), a severely asphyxiated term infant with extensive brain damage (case 2), a small preterm infant with severe brain hemorrhage and likely extensive brain damage (case 3), and a term infant with trisomy 21 syndrome and a severe cardiac malformation (case 4). RESULTS: Major differences among the three religious opinions were found in the definition of viability and in the approach towards quality of life. CONCLUSIONS: Neonatologists must be sensitive to culture and religion when dealing with major ethical issues in the neonatal intensive care unit.

Fetal Urine Production Rate in Preterm Premature Rupture of Membranes Is Associated with Adverse Neonatal Outcome: A Pilot Study.

AIM: In this study, we evaluate the associations between fetal urinary production rate (FUPR), measured by ultrasound, and adverse neonatal outcome in women with preterm premature rupture of membranes (PPROM). METHODS: We conducted a prospective pilot cohort of singleton pregnancies complicated by PPROM occurring at gestational week 24 or later managed until spontaneous labor (after 48 h of admission), chorioamnionitis, or induction by protocol at 35 + 0 weeks. FUPR was evaluated by 2D sonography at admission (corrected for gestational age). The main neonatal outcome measures were chorioamnionitis, placental inflammatory grading, first neonatal creatinine value, first neonatal dextrose value, length of neonatal intensive care unit (NICU) stay, necrotizing enterocolitis (NEC), intraventricular hemorrhage (IVH) (grades I-IV), blood transfusions, reduced neonatal urine production rate (<4 mL/kg/h), and early neonatal sepsis. Samples of maternal (at admission) and umbilical cord blood were analyzed for interleukin-6 (IL-6) level. RESULTS: The study included 38 women. Low FUPR was associated with clinical chorioamnionitis, longer NICU hospitalization (p = 0.01), higher rates of NEC or IVH (p = 0.008), and blood transfusion (p = 0.004). CONCLUSIONS: A finding of FUPR on in utero ultrasound examination in pregnancies complicated by PPROM may be indicative of adverse neonatal outcome.

Might Bilirubin Serve as a Natural Antioxidant in Response to Neonatal Encephalopathy?

BACKGROUND: Neonatal asphyxia is often associated with hepatic injury. We hypothesized that this might lead to increased bilirubin concentrations. STUDY DESIGN: Term neonates admitted between January 2015 and April 2017 who remained hospitalized for ≥ 4 days and who had serial serum bilirubin concentrations recorded were divided into those with neonatal encephalopathy (NE) and controls. Serial serum bilirubin concentrations during the first days of life were compared between groups. RESULTS: Twenty-nine neonates with NE and 84 age-matched controls were identified. Mean total serum bilirubin concentrations of NE babies were significantly lower than those controls throughout the first days of life. At 96 hours of age, NE serum bilirubin concentrations were 4.5 (3.2, 5.8) versus controls of 10.5 (9.4, 11.5) mg/dL (p < 0.0001). The mean area under the curve (AUC) for the NE group was 268 (215, 321) versus 663 (608, 718), p < 0.0001, for the control group. All of the NE babies remained below the 40th percentile of the Bhutani curve and none required phototherapy. CONCLUSION: Contrary to our hypothesis, bilirubin concentrations in NE infants are significantly lower than expected during the first 4 days postnatally. We speculate that, under conditions of severe oxidative stress, bilirubin is consumed as an antioxidant.

Neonatal characteristics and perinatal complications in neonates with Down syndrome.

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.

Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome.

OBJECTIVE: To ascertain whether thyroxine (T4)-based screening programs for congenital hypothyroidism (initial measurement of total T4 [tT4] followed by thyroid stimulating hormone [TSH] measurement in patients with tT4 <10th percentile) identifies congenital hypothyroidism in all neonates with Down syndrome. STUDY DESIGN: Retrospective cohort study of 159 neonates with Down syndrome, born during the period 1998-2007 were included. Screening test results were compared with those of the general population. All primary care physicians of these infants were contacted and infants' thyroid status verified. RESULTS: tT4 concentrations in children with Down syndrome were significantly lower, and TSH higher than those in the general population; tT4 concentrations did not correlate with screening TSH concentrations. Twenty children with Down syndrome were treated with L-thyroxin within the first month of life although only 10 babies had been identified by the routine screening test. CONCLUSIONS: T4-based screening does not identify many cases of congenital hypothyroidism in neonates with Down syndrome. We recommend that neonates with Down syndrome be screened by simultaneous measurements of both tT4 and TSH.

Delivery of a very low birth weight infant and increased maternal risk of cancer and death: a population study with 16 years of follow-up.

BACKGROUND: Pregnancy complications represent sentinel events for women's future health. We investigated whether delivery of a very low birth weight (VLBW) infant is associated with increased maternal risk for future incidence of maternal cancer and death. METHODS: This is a population-based cohort study of linked Israeli Ministry of Health datasets between 1995 and 2011. Women delivering a live singleton <1,500 g infant (VLBW group) were compared with women delivering a live singleton, 3,000-3,500 g (control). The first pregnancy eligible for entry into the study, the "index pregnancy," reflected exposure status for each participant. Primary outcomes were maternal cancer and death. Cancer diagnoses were further classified by primary site. Cox regression models adjusted for follow-up period and maternal characteristics at index pregnancy: Age at delivery, ethnicity, years of education, marital status, and previous cancer afforded calculation of hazard ratios (HR) and 95% confidence intervals (CI). FINDINGS: During the study period, 982,091 mothers with 2,243,736 live births were identified; of these, 13,773 births were VLBW eligible for inclusion in the study and 448,743 births were controls. Groups differed significantly by average follow-up and all maternal characteristics evaluated. Overall rate of cancers and death was significantly increased for VLBW women compared to controls: 18.4 versus 15.7% and 7.3 versus 3.2%, both p < 0.0001. The Cox model adjusted for maternal characteristics showed significantly increased risk of cancer (all sites) in the VLBW women: HR 1.18 (95% CI 1.02-1.37) and for death: HR 2.13 (95% CI 1.68-2.71), and an increased combined risk of both outcomes: HR 1.4 (95% CI 1.23-1.59). INTERPRETATION: The delivery of a VLBW newborn is an independent lifetime risk factor for subsequent maternal cancers and death. These women may benefit from targeted cancer screening and counseling.

The effects of maternal age and parity on maternal and neonatal outcome.

PURPOSE: Delayed childbearing is increasingly common; hence, concerns emerge regarding potential for additional risks of delivery at advanced maternal age (AMA; ≥35 years). In this study, we sought to assess impact of AMA and parity on maternal and perinatal outcomes. METHODS: In this retrospective single-center study (July 2005 to October 2011), we compared spontaneously-conceived singleton births of AMA mothers with spontaneously-conceived singletons of mothers aged 24-27 years. Maternal outcomes: incidence of diabetes, hypertension, and emergency cesarean sections (ECS). Neonatal outcomes: prematurity, birth weight, incidence of small or large for gestational age infants (SGA/LGA, respectively), low birth weight (LBW), and 5'-Apgar scores. Sub-groupings of maternal age were 35-38, 39-42, or 43-47 years; prematurity as <34 or <37 weeks; AMA parity as primiparous, 2-5 births, 6-9 births, or ≥10 births. Binary logistic regression was used for multivariate analyses. RESULTS: Of 24,579 eligible women, 11,243 were AMA (14.0% total singleton births) and 13,336 were aged 24-27 years (16.7% total singleton births) at delivery. There were no maternal or perinatal deaths. Incidence of maternal hypertension and diabetes was significantly greater in AMA, especially oldest AMA. AMA including primiparous had significantly more ECS than younger including primiparous controls, respectively, and were more likely to deliver LGA neonates. Primiparous AMA women did not have increased incidence of LGA babies but significantly increased incidence of SGA infants. CONCLUSION: AMA, especially primiparous, has more adverse maternal and neonatal outcomes than younger women; however, these did not include mortality. Consistent antenatal care may explain this.

The prenatal diagnosis of isolated fetal varix of the intra-abdominal umbilical vein is associated with favorable neonatal outcome at term: a case series.

OBJECTIVE: Varix of the fetal intra-abdominal umbilical vein (VFIUV) has been reported to be associated with an increased risk of adverse perinatal outcome and especially with intra-uterine fetal demise (IUFD). Induction of preterm birth, as early as 32-34 weeks gestation has been suggested to minimize this risk. We aimed to evaluate our center experience with the antenatal diagnosis of VFIUV and review the relevant literature. METHODS: This is a retrospective case series of all cases (between 2004 and 2009) where the sonographic antenatal diagnosis of VFIUV was registered at any gestational age (GA). Ultrasound, maternal and newborn electronic medical records were used. Descriptive statistics were employed as appropriated and correlation coefficient (r) calculated. RESULTS: We identified 24 women with fetuses, with isolated VFIUV (excluding one lost-to-follow-up). GA at diagnosis was 30.5 ± 4.4 weeks; 13 (56.5 %) cases were diagnosed <32 weeks. The mean VFIUV diameter was 13 ± 2.9 (range 9-20) mm and turbulent flow was reported in 7 cases (30.4 %). GA at birth was 37 ± 2.5 weeks. The small for gestational age rate was 4 % (1/23), while no case of IUFD occurred. The group induction of labor rate was 65.2 %, while 43 % (10/23) due to the diagnosis of VFIUV alone: 17 % (4/23) preterm and 26 % (6/23) at term. The cesarean rate was 17 % (4/23) and NICU admission was required for five neonates (21.7 %). The preterm induction of birth was related to a significantly increased risk for cesarean and neonatal morbidity (p = 0.015; p = 0.029, respectively). The mode of delivery was not associated with the GA at diagnosis, size/type of flow of VFIUV (r = 0.101; r = 0.727; r = 0.671, respectively) overall (r) = 0.4. All fetuses were live-born with normal follow-up at 2-60 months. CONCLUSION: Isolated VFIUV has a favorable perinatal outcome at term, unrelated to the structural and flow characteristics of VFIUV. We show that follow-up for growth abnormalities with no preterm induction of birth is a safe maternal and neonatal approach.

Mortality and morbidity in preterm small-for-gestational-age infants: a population-based study.

OBJECTIVE: We sought to evaluate the impact of severity of growth restriction on mortality and major neonatal morbidity among very-low-birthweight small-for-gestational-age infants. STUDY DESIGN: This was a population-based observational study using data collected by the Israel National Very-Low-Birth-Weight Infant Database 1995 through 2007 including infants 24-31 weeks' gestation, with birthweight (BW) ≤ 50th percentile without major malformations. Four BW percentile groups were considered: < 3rd, 3rd-< 10th, 10th-< 25th, and a reference group 25th-50th percentile. Univariate and multivariable logistic regression analyses were performed. RESULTS: Infants of BW 3rd-< 10th percentile were at increased risk for grades 3-4 retinopathy of prematurity (odds ratio [OR], 2.07; 95% confidence interval [CI], 1.54-2.78), bronchopulmonary dysplasia (OR, 2.52; 95% CI, 2.03-3.12), necrotizing enterocolitis (OR, 1.32; 95% CI, 1.04-1.68), and mortality (OR, 2.37; 95% CI, 1.94-2.90). The risk was further increased among infants of BW < 3rd percentile. CONCLUSION: Growth restriction severity may serve as a clinical marker of degree of risk for neonatal mortality and various morbidities.

NICU Admission for Term Neonates in a Large Single-Center Population: A Comprehensive Assessment of Risk Factors Using a Tandem Analysis Approach.

Objective: Neonatal intensive care unit (NICU) admission among term neonates is associated with significant morbidity and mortality, as well as high healthcare costs. A comprehensive NICU admission risk assessment using an integrated statistical approach for this rare admission event may be used to build a risk calculation algorithm for this group of neonates prior to delivery. Methods: A single-center case−control retrospective study was conducted between August 2005 and December 2019, including in-hospital singleton live born neonates, born at ≥37 weeks' gestation. Analyses included univariate and multivariable models combined with the machine learning gradient-boosting model (GBM). The primary aim of the study was to identify and quantify risk factors and causes of NICU admission of term neonates. Results: During the study period, 206,509 births were registered at the Shaare Zedek Medical Center. After applying the study exclusion criteria, 192,527 term neonates were included in the study; 5292 (2.75%) were admitted to the NICU. The NICU admission risk was significantly higher (ORs [95%CIs]) for offspring of nulliparous women (1.19 [1.07, 1.33]), those with diabetes mellitus or hypertensive complications of pregnancy (2.52 [2.09, 3.03] and 1.28 [1.02, 1.60] respectively), and for those born during the 37th week of gestation (2.99 [2.63, 3.41]; p < 0.001 for all), adjusted for congenital malformations and genetic syndromes. A GBM to predict NICU admission applied to data prior to delivery showed an area under the receiver operating characteristic curve of 0.750 (95%CI 0.743−0.757) and classified 27% as high risk and 73% as low risk. This risk stratification was significantly associated with adverse maternal and neonatal outcomes. Conclusion: The present study identified NICU admission risk factors for term neonates; along with the machine learning ranking of the risk factors, the highly predictive model may serve as a basis for individual risk calculation algorithm prior to delivery. We suggest that in the future, this type of planning of the delivery will serve different health systems, in both high- and low-resource environments, along with the NICU admission or transfer policy.

Unilateral lung intubation for pulmonary air leak syndrome in neonates: a case series and a review of the literature.

Air leak syndrome represents a common set of complications of ventilated premature neonates and includes pneumothorax, pneumomediastinum, pulmonary interstitial emphysema, and pneumatocele. Unilateral intubation is an infrequently utilized treatment option. We report our experience of three cases of air leak syndrome in neonates, each treated with unilateral intubation, including two cases of recalcitrant pneumothorax. A review of the literature of similar neonatal cases is presented. In view of our experience and the review of the literature, we suggest that unilateral intubation is an efficient and relatively safe therapy in cases of neonatal air leak syndrome. It is also suggested that appropriate treatment duration should be at least 48 hours.

Prospective study of maternal and neonatal outcome in great-grand multiparous women (≥10 births) and in aged-matched women with lesser parity.

PURPOSE: Evaluation of outcome of labor/delivery in great-grand multiparous (GGMP) women relative to women with lower parity is complicated because of confounding parity with (older) age. Herein, we compare maternal and neonatal outcome in GGMP from a large obstetrics department to that in older women with lesser parity. METHODS: This was a prospective observational study of older gravid women. All laboring women in a 6-month period were included in this study if they were older than 36 years and had had 2-3 previous births (low parity) or 5-6 previous births (medium parity), and also all women ≥10 births (of any age); all other laboring women were excluded. RESULTS: GGMP (187 women) relative to low-parity (128 women) and medium-parity (181 women) had higher mean gestational age (39.72 ± 1.8 vs. 39.1 ± 1.8 and 39.15 ± 1.6 weeks; p = 0.0011), mean dilatation at presentation (5.0 ± 2.0 vs. 4.3 ± 2.1 and 4.36 ± 2.0; p = 0.0074), and mean neonatal birth weight (3444.6 ± 540.8 vs. 2376 ± 507.8 and 3272.3 ± 559.5 g; p = 0.0032). GGMP relative to low- and medium-parity women had lower mean gravidity:parity (1.10 vs. 1.3 and 1.19; p < 0.0001); percent missed abortions (8 vs. 28.1 and 43.1%; p = <0.0001); mean second stage (10.4 ± 12.5 vs. 21.2 ± 26.4 and 12.8 ± 17.3 min; p < 0.0001); mean ratio previous cesarean sections: total potential deliveries (0.03 ± 1.07 vs. 0.16 ± 0.25 and 0.09 ± 0.22; p < 0.0001). The low parity group had the least good maternal and neonatal characteristics. There was no maternal or fetal mortality in any group. CONCLUSIONS: Among older Israeli GGMP women, maternal and neonatal outcome is good and comparable to women of similar age, but lesser parity.

Partial exchange transfusion to prevent neurodevelopmental disability in infants with polycythemia.

BACKGROUND: Hyperviscosity of blood results in increased resistance to blood flow and decreased oxygen delivery. In the neonate, hyperviscosity can cause abnormalities of central nervous system function, hypoglycemia, decreased renal function, cardiorespiratory distress, and coagulation disorders. Hyperviscosity has been reported to be associated with long-term motor and cognitive neurodevelopmental disorders. Blood viscosity exponentially increases when an infant has polycythemia (hematocrit >/= 65%). Partial exchange transfusion (PET) is traditionally used as the method to lower the hematocrit and treat hyperviscosity. OBJECTIVES: To evaluate the effect of PET on mortality and neurodevelopmental outcome in infants with neonatal polycythemia. SEARCH STRATEGY: Electronic databases searched included: The Cochrane Central Register of Controlled Trials (CENTRAL, The Cochrane Library), MEDLINE (1966 to October 2009), EMBASE (1980 to October 2009) and CINAHL (1982 to October 2009). SELECTION CRITERIA: Randomized controlled clinical trials or quasi-randomized trials comparing partial exchange transfusion to control (non-treatment) in infants with neonatal polycythemia DATA COLLECTION AND ANALYSIS: Data collection and analysis was performed according to the standards of the Cochrane Neonatal Review Group. MAIN RESULTS: One study (Kumar 2004) reported no demonstrable effect on the risk of neonatal mortality (RR 5.23, 95% CI 0.66, 41.26).Four studies reported on neurodevelopmental assessment at 18 months or older. The completeness of follow-up differed widely between the studies. Overall, no difference was seen in developmental delay when all trials are analysed based on available cases (typical RR 1.45, 95% CI 0.83 to 2.54) and when only the randomized controlled trials are analysed (typical RR 1.35, 95% CI 0.68 to 2.69). A best case/worst case analysis of developmental delay is consistent with large benefit or harm from PET.Two studies reported on necrotizing enterocolitis (Van der Elst 1980; Black 1985). An increase in the risk of NEC was noted in infants receiving PET (typical RR 11.18, 95% CI 1.49, 83.64; typical RD 0.14, 95% CI 0.05, 0.22). No differences in short-term complications including hypoglycemia (two studies) and thrombocytopenia (one study) were noted. AUTHORS' CONCLUSIONS: There are no proven clinically significant short or long-term benefits of PET in polycythemic newborn infants who are clinically well or who have minor symptoms related to hyperviscosity. PET may lead to an increase in the risk of NEC. The data regarding developmental follow-up is extremely imprecise due to the large number of surviving infants who were not assessed and, therefore, the true risks and benefits of PET are unclear.

N-terminal-pro-B-type natriuretic peptide in premature patent ductus arteriosus: a physiologic biomarker, but is it a clinical tool?

This study investigated whether N-terminal-pro-B-type natriuretic peptide (NT-proBNP) levels could serve as prognostic indicators of the therapeutic responsiveness of the patent ductus arteriosus to pharmacologic treatment. The levels of NT-proBNP in premature neonates with hemodynamically significant patency of the ductus arteriosus (hsPDA) were assessed before and after treatment using ibuprofen, indomethacin, or both. The baseline NT-proBNP levels were similar in both the infants who responded and those who did not respond to medical treatment. The combined data for all the subjects showed that NT-ProBNP decreased after treatment, but the decrease did not correlate significantly with treatment success or failure. Of the 38 infants, 11 did not respond to treatment with ductal closure. Although the pretreatment NT-proBNP levels were similar, the posttreatment levels in the nonresponders remained significantly higher than in the responders. Moreover, in 3 (27%) of the 11 nonresponders, NT-proBNP actually increased rather than decreased with treatment. The NT-proBNP levels of seven infants increased over the course of the study. Within this group, however, the pretreatment NT-proBNP levels were significantly lower than in the overall population, with no differences in the posttreatment levels. Overall, the decrease in NT-proBNP with treatment, presented as the ratio of pretreatment-post-treatment/pretreatment was not well correlated with the ductal therapeutic outcome. In summary, in the study population, NT-proBNP was not sufficiently sensitive for accurate prediction of ductal therapeutic responsiveness.

The incidence of congenital heart defects in very low birth weight and extremely low birth weight infants.

BACKGROUND: The incidence of congenital heart defects, reported to be 5-8/1000 in term infants, is not well established in very low birth weight infants. OBJECTIVES: To establish the incidence of congenital heart defects in VLBW infants in the neonatal intensive care unit of our institution. METHODS: A retrospective analysis of the population in the NICU at our institution was performed. VLBW (BW < or = 1500 g) infants born between 2001 and 2006 who survived more than 48 hours were included in the study. Infants with clinical signs of heart disease underwent echocardiography. RESULTS: During the study period 437 VLBW live-born infants met the inclusion criteria. Of these, 281 (64.3%) underwent echocardiography. CHD was detected in 19 infants (4.4%, 95% confidence interval 2.4-5.4%), significantly higher than the incidence of 5-8/1000 in the general population (P<0.0001). In the subgroup of 154 infants with BW < 1000 g there were 10 (6.5%) with CHD. In the subgroup of 283 infants with BW 100-1500 g there were 9 (3.2%, P= 0.19 vs. VLBW) with CHD. CONCLUSIONS: Our observations show an increased incidence of CHD in VLBW neonates, as compared to the general population. Since not all infants underwent echocardiography, and minor cardiac defects may have been missed in our VLBW infants, the true incidence may be higher than reported here.

"Your baby has Down syndrome": what is the preferable way to inform parents?

OBJECTIVE: We tested whether mothers of neonates with Down syndrome (DS) prefer to get the diagnosis after delivery in a one-step approach or in a two-step one (information about suggestive findings, followed by additional explicit meeting). METHODS: Mothers were asked whether (1) they had been informed in one or two steps; (2) they would have preferred the other approach. RESULTS: Of 45 women who completed the questionnaires, 18 (40%) had been informed in a one step and 27 (60%) in two steps. Thirteen of the 18 mothers (72.2%) informed in one step were satisfied with the manner they had been informed, while 19 (70.4%) in the two-step group expressed satisfaction. CONCLUSION: Mothers were generally satisfied with the method chosen with them. We speculate that an adaptive, supportive, empathic, caring and honest approach, taking into consideration family cultural and religious backgrounds may be able to optimize the delivery of such news.

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes.