Nancy Mazzitelli

Gastroschisis is a defect of the umbilical ring: evidence from morphological evaluation of stillborn fetuses.

BACKGROUND Gastroschisis (GS) is usually described as an abdominal wall defect, to the right of a normally inserted umbilical cord, without membraneous covering of the extruded organs. However, precise anatomical descriptions are lacking in the literature. Our aims were to provide evidence that allows reconsideration of its current definition, as well as an explanation for prenatal death, based on detailed observation of stillborn fetuses with GS and a review of the literature. METHODS Prenatal studies, clinical examinations, and histological findings of five stillborn fetuses with isolated GS are described and photographic evidence is provided. RESULTS In all five cases, the umbilical cord was only attached to the left side of the umbilical ring, while the right side remained uncovered, allowing evisceration of abdominal organs. Histological evidence of mucoid-like tissue at the free border of the ring suggests that at that site the cord was initially inserted and later detached. Characteristics of the umbilical ring, bowel dilatation, and autopsy findings of acute asphyxia strongly support compression of umbilical vessels as the cause of fetal death. CONCLUSIONS Based on these findings, on the lack of evidence in the literature demonstrating full-thickness abdominal wall separating the defect from the umbilical cord, and on a critical review of the proposed mechanisms favoring the hypothesis of a defect separate from the umbilical ring, we propose that GS represents a failure in the normal attachment between umbilical cord and umbilical ring. The consistent clinical course of fetuses with prenatal demise suggests careful targeted monitoring during late gestation.

Single Umbilical Artery and Associated Malformations in over 5500 Autopsies: Relevance for Perinatal Management:

With a birth prevalence rate of about 1%, single umbilical artery (SUA) is the most frequent of all congenital anomalies. It is recognizably associated with a variety of birth defects, but disagreement exists as to whether a SUA can predict an adverse perinatal outcome; disagreement also exists related to if, when present, other birth defects should be ruled out. The aims of the study were to estimate the association between SUA and other birth defects in a series of perinatal autopsies, to establish if preferential associations between SUA and certain birth defects exist, and to quantify the risks for other birth defects when a SUA is diagnosed. In a series of 5539 perinatal autopsies conducted at the Hospital Materno Infantil Ramón Sardá and the Private Laboratory of Perinatal Pathology, Buenos Aires, Argentina, the rate of each malformation (grouped by organ/system) associated with SUA and the risks of associated malformations were estimated. In this series of autopsies, the rate of SUA showed a 10-fold increase when other malformations were present. The risk for other malformations increased significantly, by a 3-fold to 9-fold measure, when a SUA was present. Urinary and gut anomalies showed a preferential association with SUA. The absence of other birth defects lowered the risk of chromosome anomalies associated with SUA in 56% (odds ratio = 0.44). These results, obtained from a series of perinatal autopsies, are in agreement with most observations found in the literature, namely, high association rates between SUA and urinary and cardiovascular anomalies as well as a low risk for chromosome anomalies in SUA cases without other malformations.

Second-trimester histopathological placental findings in maternal-fetal inflammatory response syndrome.

Immature delivery is frequently associated with a maternal-fetal inflammatory response at the placental level. The aims of this study were to determine the prevalence, staging, and grading of histological findings (associated with acute maternal-fetal inflammatory response syndrome) in placentas of immature fetuses and to establish the relationship between maternal and fetal responses and its frequency distribution by fetal weight. The studied placentas corresponded to fetuses with weights ranging between 12 g and 625 g. The inflammatory response was classified according to the criteria published by the Perinatal Section of the Society for Pediatric Pathology. Of the 354 placentas analyzed, 231 (65.3%) showed acute inflammatory response. In 98.7% of the cases, inflammation was classified as maternal inflammatory response (MIR) and in 49.8% as fetal inflammatory response (FIR). In 49.1% of the cases, MIR was accompanied by FIR, whereas only 3 cases of FIR did not show MIR. As their stages increased, fetal response rates and the severity of MIR and FIR grew at higher stages of maternal response. Although the frequency of MIR was similar in different fetal weight groups, that of FIR increased with weight and gestational age.

Acephaly: Further Evidence for Disruption but Not for Amniotic Bands

Complete absence of the fetal head in singleton pregnancies is a very rare defect; to our knowledge there are only 7 reported cases. Decapitation by amniotic bands has been considered as the most probable cause. However, in none of the described cases except one were amniotic bands, constriction rings, or other related findings observed, raising the possibility that mechanisms other than amputation by amniotic bands are involved. We present a further case of acephaly and discuss the role of amniotic bands and alternative mechanisms of decapitation and a possible sequence of events leading to acephaly.

Renal enlargement in the fetus and newborn with Congenital diaphragmatic hernia : A refuted hypothesis

BACKGROUND/PURPOSE Congenital diaphragmatic hernia (CDH) is one of the most frequent causes of neonatal death because of lung hypoplasia (LH). The literature mentions a relationship between renal and pulmonary development, with higher kidney weight in presence of LH. The aims of this study were to evaluate the relationship between lung and kidney weight and to test the hypothesis of renal enlargement in fetuses and newborns with CDH. METHODS Body weight (BW), combined kidney weight (KW), and lung weight (LW) of 52 CDH cases were established; 52 morphologically normal fetuses or newborns, matched by BW, served as a control population. Comparisons were done by covariance analysis, and a P value of less than .05 was considered as significant. RESULTS Excluding renal abnormalities, adjusted mean kidney weights were 22.0 g (+/-1.8 SE) in CDH cases and 20.5 g (+/-1.5 SE) in controls (F = 1.05; P = .308). KW to BW ratio was lower in CDH cases than in controls (P = .023). LW was significantly lower in CDH cases than in controls. CONCLUSIONS No significant difference between KW of CDH cases and controls could be observed. The current study provides enough evidence to reject the hypothesis of renal enlargement in cases of LH and CDH.

Placental Growth Measures in Relation to Birth Weight in a Latin American Population

Introduction The placenta, translates how the fetus experiences the maternal environment and is a principal influence on birth weight (BW). Objective To explore the relationship between placental growth measures (PGMs) and BW in a public maternity hospital. Methods Observational retrospective study of 870 singleton live born infants at Hospital Maternidad Sardá, Universidad de Buenos Aires, Argentina, between January 2011 and August 2012 with complete data of PGMs. Details of history, clinical and obstetrical maternal data, labor and delivery and neonatal outcome data, including placental measures derived from the records, were evaluated. The following manual measurements of the placenta according to standard methods were performed: placental weight (PW, g), larger and smaller diameters (cm), eccentricity, width (cm), shape, area (cm(2)), BW/PW ratio (BPR) and PW/BW ratio (PBR), and efficiency. Associations between BW and PGMs were examined using multiple linear regression. Results Birth weight was correlated with placental weight (R(2) = 0.49, p < 0.001), whereas gestational age was moderately correlated with placental weight (R(2) = 0.64, p < 0.001). By gestational age, there was a positive trend for PW and BPR, but an inverse relationship with PBR (p < 0.001). Placental weight alone accounted for 49% of birth weight variability (p < 0,001), whereas all PGMs accounted for 52% (p < 0,001). Combined, PGMs, maternal characteristics (parity, pre-eclampsia, tobacco use), gestational age and gender explained 77.8% of BW variations (p < 0,001). Among preterm births, 59% of BW variances were accounted for by PGMs, compared with 44% at term. All placental measures except BPR were consistently higher in females than in males, which was also not significant. Indices of placental efficiency showed weakly clinical relevance. Conclusions Reliable measures of placental growth estimate 53.6% of BW variances and project this outcome to a greater degree in preterm births than at term. These findings would contribute to the understanding of the maternal-placental programming of chronic diseases.