Prenatal Predictors for Pulmonary Balloon Valvuloplasty in the Newborn.

Pulmonary balloon valvuloplasty (PBV) is the treatment of choice for subjects with isolated pulmonary valve stenosis (IPS). The purpose of this study was to define fetal echocardiographic features associated with an inpatient PBV prior to newborn hospital discharge and characterize resource utilization of IPS fetuses among participating centers. Six center, retrospective case series of singleton fetuses identified between 2010 and 2020 with IPS. Third-trimester echocardiogram data was compared with postnatal data, included pulmonary valve Doppler velocities, pulmonary valve insufficiency and ductus arteriosus flow direction. Comparison between subjects who underwent inpatient PBV during their newborn hospital admission versus those infants referred for outpatient PBV after initial hospital discharge. We analyzed data by logistic regression, student t test and Chi-Square testing with a p value of ≤ 0.05 considered statistically significant. Forty-nine IPS fetuses were identified. Thirty-eight (78%) underwent inpatient PBV at 5 (range 1-58) days and 11 (22%) underwent outpatient PBV at 51.8 (11-174) days. Newborns requiring an inpatient PBV were more likely to have one or more characteristics on 3rd-trimester fetal echocardiogram: left to right or bidirectional ductus arteriosus flow (61% vs 0%), and/or a peak pulmonary valve velocity > 3.0 m/s (odds ratio 16.9, 95% confidence interval 3.02-94.17) with a sensitivity of 90.4% and specificity of 97.7%. Ductus arteriosus flow direction and pulmonary valve peak velocity in the 3rd trimester can successfully predict the need for newborn inpatient PBV. We speculate these findings may be useful in choosing delivery site for the pregnancy complicated by fetal IPS.

Mandibular Measurements at the 20-Week Anatomy Ultrasound as a Prenatal Diagnostic Predictor of Pierre Robin Sequence.

BACKGROUND: Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, and upper airway obstruction. Early recognition and appropriate perinatal management is crucial for optimizing outcomes. This study aimed to evaluate 20-week fetal ultrasounds to determine if specific mandibular measurements could predict PRS diagnosis and disease severity. METHODS: A retrospective case-control study of 48 patients with PRS and gender-matched controls was performed. Medical records were reviewed for respiratory and surgical interventions. Three parameters to assess micrognathia were measured on mid-sagittal profile ultrasound images: frontal nasal-mental angle (FNMA), facial-maxillary angle (FMA), and alveolar overjet. Student's t-test and univariate logistic regression was performed. P ≤ 0.05 was considered statistically significant. RESULTS: Patients with PRS demonstrated a significantly smaller mean FNMA compared to the control group, 129.3 ± 8.6° and 137.4 ± 3.2°, respectively (p < 0.0001), as well as significantly smaller mean FMA, 63.2 ± 9.2° and 74.8 ± 6.1°, respectively (p < 0.0001). The PRS group also demonstrated significantly larger mean alveolar overjet compared to the control group, 3.9 ± 1.4 mm and 2.1 ± 0.9 mm, respectively (p < 0.0001). The odds of respiratory intervention increased among cases when FMA was <68°. Additionally, there was a significant difference in median overjet between patients with PRS who did and did not require respiratory intervention. CONCLUSIONS: Mandibular features on the 20-week ultrasound can be measured to predict diagnosis and severity of PRS. This is an important first step to prepare for potential respiratory intervention at delivery to minimize perinatal hypoxia. Alveolar overjet, previously not described in prenatal ultrasound literature, is measurable and has utility in prenatal screening for PRS, as do FMA and FNMA.

Reducing pelvic floor injury by induction of labor.

INTRODUCTION AND HYPOTHESIS: We hypothesized that elective induction of labor (eIOL) at 39 weeks is protective of levator ani muscle injury (LAMI) and is associated with decreased pelvic symptoms at 6 weeks postpartum compared to expectant management of labor. METHODS: Prospective cohort pilot study of uncomplicated, primiparous women with a singleton, vertex gestation enrolled immediately post-vaginal delivery (VD). Subjects were dichotomized into two groups based on labor management: eIOL without complication defined by the ARRIVE trial versus spontaneous VD between 39 weeks0/7 and 42 weeks5/7 or no indication for IOL prior to 40 weeks5/7. The primary outcome was LAMI at 6 weeks postpartum as evidenced by any of the following ultrasound measures: (1) increased levator hiatal area (LHA) > 2500 mm2, (2) increased elasticity index (EI, > 75th quartile) or (3) levator enthesis avulsion. RESULTS: Analysis represents 45/102 consented women from July 2019-October 2020 (eIOL n = 22 and spontaneous VD, n = 23). Neither maternal, clinical, sociodemographic characteristics nor pelvic symptoms differed between groups. Fewer women had LAMI as defined by the primary outcome with eIOL (n = 5, 23.8%) compared to spontaneous VD (n = 15, 65.2%), p = 0.008. Levator enthesis was more deformable (increased EI) with spontaneous VD as compared to the eIOL [10.66 (8.99) vs. 5.68 (2.93), p = 0.046]. On univariate logistic regression women undergoing spontaneous VD had unadjusted OR of 6.0 (1.6-22.5, p = 0.008) of sustaining LAMI compared to those undergoing eIOL. CONCLUSIONS: Composite measures of LAMI though not pelvic floor symptoms were markedly increased in women undergoing spontaneous VD compared to those undergoing eIOL at 39 weeks.

Prevalence and Predictors of Urinary Incontinence at 1 Year Postpartum.

OBJECTIVES: Postpartum urinary incontinence estimates range from 13% to 47%. Clinical factors associated with incontinence 1 year after first delivery are varied. We assessed the prevalence of and factors associated with urinary incontinence in primiparous women at 12 months postpartum. METHODS: Ancillary analysis of 99 nulliparous women from a prospective cohort study that assessed participants during the first and third trimesters and 12 months postpartum. Our primary outcome was urinary incontinence 12 months postpartum. Women were asked "How often do you experience urine leakage?" and considered to have urinary incontinence if a response other than "never" was reported. We collected vaginal swabs for assessment of matrix metalloproteinase-9 activity, a measure of tissue remodeling. Bivariable and logistic regression analyses were used to compare women with and without postpartum urinary incontinence. RESULTS: Of 99 primiparous women, 55% (n = 54) reported urinary incontinence at 12 months postpartum. Logistic regression demonstrated that urinary incontinence during pregnancy (odds ratio, 34.3; 95% confidence interval, 7.9-149.2) and a decrease in matrix metalloproteinase 9 activity between the first and third trimesters (odds ratio, 19.34; 95% confidence interval, 3.47-107.84) were associated with postpartum urinary incontinence. The sensitivity and specificity of urinary incontinence during pregnancy for predicting postpartum urinary incontinence were 87% and 67%, respectively. The positive and negative predictive values were 76% and 81%, respectively. CONCLUSIONS: Urinary incontinence affected 55% of primiparous women at 12 months postpartum. Urinary incontinence during pregnancy was strongly associated with postpartum incontinence. Importantly, vaginal tissue protease activity during pregnancy represents a possible mechanism for and biomarker of postpartum urinary incontinence.

Fetal Weight Estimation Using Automated Fractional Limb Volume With 2-Dimensional Size Parameters: A Multicenter Study.

OBJECTIVES: To develop new fetal weight prediction models using automated fractional limb volume (FLV). METHODS: A prospective multicenter study measured fetal biometry within 4 to 7 days of delivery. Three-dimensional data acquisition included the automated FLV that was based on 50% of the humerus diaphysis (fractional arm volume [AVol]) or 50% of the femur diaphysis (fractional thigh volume [TVol]) length. A regression analysis provided population sample-specific coefficients to develop 4 weight estimation models. Estimated and actual birth weights (BWs) were compared for the mean percent difference ± standard deviation of the percent differences. Systematic errors were analyzed by the Student t test, and random errors were compared by the Pitman test. RESULTS: A total of 328 pregnancies were scanned before delivery (BW range, 825-5470 g). Only 71.3% to 72.6% of weight estimations were within 10% of actual BW using original published models by Hadlock et al (Am J Obstet Gynecol 1985; 151:333-337) and INTERGROWTH-21st (Ultrasound Obstet Gynecol 2017; 49:478-486). All predictions were accurate by using sample-specific model coefficients to minimize bias in making these comparisons (Hadlock, 0.4% ± 8.7%; INTERGROWTH-21st, 0.5% ± 10.0%; AVol, 0.3% ± 7.4%; and TVol, 0.3% ± 8.0%). Both AVol- and TVol-based models improved the percentage of correctly classified BW ±10% in 83.2% and 83.9% of cases, respectively, compared to the INTERGROWTH-21st model (73.8%; P < .01). For BW of less than 2500 g, all models slightly overestimated BW (+2.0% to +3.1%). For BW of greater than 4000 g, AVol (-2.4% ± 6.5%) and TVol (-2.3% ± 6.9%) models) had weight predictions with small systematic errors that were not different from zero (P > .05). For these larger fetuses, both AVol and TVol models correctly classified BW (±10%) in 83.3% and 87.5% of cases compared to the others (Hadlock, 79.2%; INTERGROWTH-21st, 70.8%) although these differences did not reach statistical significance. CONCLUSIONS: In this cohort, the inclusion of automated FLV measurements with conventional 2-dimensional biometry was generally associated with improved weight predictions.

Pregnancy and parturition negatively impact vaginal angle and alter expression of vaginal MMP-9.

BACKGROUND: Parity is the greatest risk factor for the development of pelvic organ prolapse. The normally supported vagina is pulled up and back over the levator ani. Loss of vaginal angulation has been associated with prolapse and may represent injury to the vaginal supportive tissues. OBJECTIVE: We proposed and examined the following hypotheses: (1) pregnancy and delivery impact vaginal support, leading to loss of vaginal angle; (2) vaginal angulation is restored postpartum; and (3) uncomplicated vaginal delivery (VD) is associated with accelerated remodeling of the vaginal fibrillar matrix. MATERIALS AND METHODS: We prospectively enrolled a cohort of nulliparas in the first trimester of pregnancy, and abstracted demographic and delivery data. Metalloproteinase 9 (MMP-9) activity in the vagina was determined in the first and third trimesters and 1 year postpartum using a substrate activity assay. Uncomplicated VD was defined as none of the following: cesarean delivery, forceps or vacuum use, shoulder dystocia, obstetric anal sphincter laceration, or prolonged second-stage labor. Women were grouped dichotomously for comparison based on this definition. A subset of participants underwent transperineal ultrasound. RESULTS: We enrolled 173 women with mean age of 25 ± 6 years and a body mass index of 20 ± 7 kg/m2. Of the women, 67% identified as white/Caucasian, 27% black/African American, or 6% Hispanic/Latina. The mean delivery age was 39 ± 3 weeks, with 59% of participants experiencing uncomplicated VD. The MMP-9 median activity (ng/mg protein) was 242.0 (IQR, 18.7, 896.8; n = 157) in the first trimester, 130.8 (IQR, 14.6, 883.8; n = 148) in the third trimester, and 463.5 (IQR, 92.2, 900.0; n = 94) postpartum. The MMP-9 activity increased between the third trimester and 1 year postpartum (P = .006), with no significant difference between MMP-9 values in the first and third trimesters (P = .674). The vaginal angle became less acute from the first to the third trimester, and this change persisted postpartum. The vaginal angulation over the levator plate became more acute between the third trimester and postpartum in women who experienced uncomplicated VD compared to those who did not (-6.4 ± 22.1 degrees vs 17.5 ± 14.8 degrees; P = .017). Higher MMP-9 activity postpartum was associated with uncomplicated VD, with 67% of women in the third tertile achieving uncomplicated VD versus 39% in the first tertile (P = .029). CONCLUSION: Loss of vaginal angulation occurs between trimesters, and women do not recover their baseline resting angle postpartum. MMP-9 activity increases postpartum. Women experiencing uncomplicated VD demonstrate higher postpartum MMP-9 activity and are more likely to have recovered their vaginal angle.

Failed Intrauterine Pregnancy: What Is a Failed Pregnancy, What Is Not?

Pregnancy failure is defined as a lack of sonographic evidence of current or expected viability. Technologic advances in ultrasound imaging continue to redefine diagnostic criteria of pregnancy failure or success. When evaluating a pregnancy, the first step is an assessment of maternal risk factors for failure. Imaging clues such as an empty gestational sac measuring ≥25 mm or an embryo ≥7 mm without cardiac activity are reliable signs of pregnancy failure, whereas embryonic growth <1 mm/d is not. Combinations of sonographic findings can be used for a more accurate prediction of pregnancy success or failure.

Sonographic Tips for Evaluation of Adnexal Masses in Pregnancy.

Pregnancy is frequently a women's first contact with the health care system and often her first pelvic ultrasound examination. This first sonogram can reveal previously unknown adnexal pathology. Approximately 4% of pregnant women will have an adnexal mass detected by sonography and 1% to 2% of these masses will persist. It is estimated that up to 7% of these persistent masses will be malignant. Sonography plays an important role in differentiating benign from malignant adnexal masses and physiological from pathologic masses and should be used judiciously to complement evaluation and help guide treatment.

Neonatal Outcomes in Fetuses With a Persistent Intrahepatic Right Umbilical Vein.

OBJECTIVES: A fetal persistent intrahepatic right umbilical vein has been linked to anomalies and genetic disorders but can be a normal variant. We conducted a retrospective review to determine other sonographic findings that can stratify fetuses for further evaluation. METHODS: A total of 313 fetuses had a persistent intrahepatic right umbilical vein identified on 17- to 24-week sonography. The outcome was any major congenital anomaly or an adverse neonatal outcome, which was defined as aneuploidy, fetal demise, or neonatal death. RESULTS: A total of 217 patients (69.3%) had a normal neonatal outcome. Sixty-nine patients (22.0%) were lost to follow-up. Five fetuses (2.1%) had aneuploidy; 4 of the 5 had additional sonographic findings, and 1 had an isolated persistent intrahepatic right umbilical vein. Twenty-four fetuses had a major anomaly in association with the persistent right umbilical vein; 26 additional fetuses had soft sonographic markers associated with karyotypic abnormalities but were chromosomally normal. Of those with adverse neonatal outcomes, 12 had a congenital heart defect (57%). An additional sonographic finding with a persistent intrahepatic right umbilical vein was predictive of a congenital anomaly or an adverse neonatal outcome (P < .001), with a positive predictive value of 44.0% (95% confidence interval, 30.0%-58.7%). An isolated persistent intrahepatic right umbilical vein had a 0.4% risk for a congenital anomaly or an adverse neonatal outcome. CONCLUSIONS: A persistent intrahepatic right umbilical vein should prompt an extended anatomic survey and a fetal cardiac evaluation. If the survey and cardiac anatomy are reassuring, no further follow-up is needed. If additional findings are identified, genetic counseling and invasive testing should be considered.

Ultrasonography estimates of fetal growth in fetuses affected by trisomy 21.

OBJECTIVE: To construct growth curves specific for fetuses with trisomy 21 (T21) and to compare them with the reference-based standard. METHODS: A retrospective cohort study was conducted of ultrasonography examinations from women with singleton pregnancies with a confirmed diagnosis of T21 who sought care at an academic tertiary-care center in the USA between January 1, 2003, and December 31, 2013. Growth curves were constructed using linear regression and compared with the Hadlock standard. RESULTS: The study included 425 ultrasonography examinations from 235 women. The head circumference and femur length were smaller than the reference standards at all gestational ages (head circumference: P=0.017; femur length: P<0.001). The abdominal circumference was larger than the reference standard from 29weeks onward (P<0.001). The biparietal diameter was smaller in the second trimester and in the late third trimester (P<0.001). The overall estimated fetal weight was not different from the reference standard. CONCLUSION: The T21-specific growth curves indicate anthropometric differences between T21 fetuses and the general population. Once validated, such individual growth curves could allow for more accurate prenatal assessment and management of fetuses affected by T21.

Threshold for endometrial sampling among postmenopausal patients without vaginal bleeding.

OBJECTIVE: To provide an optimum threshold for endometrial biopsy sampling among postmenopausal women without vaginal bleeding and an incidentally-found endometrial lining of above 4mm. METHODS: A cohort of postmenopausal women (aged ≥50 years) who underwent pelvic ultrasonography at a tertiary US hospital for indications other than vaginal bleeding was retrospectively evaluated. Women were included if they had an endometrial lining of above 4mm. Logistic regression was performed to determine the probability of endometrial carcinoma and atypical hyperplasia at each increasing millimeter of endometrial thickness from 4 to 20mm. RESULTS: Among 462 women, carcinoma was identified in 9 (1.9%) and atypical hyperplasia in 7 (1.5%). An endometrial thickness of or above 14 mm was significantly associated with atypical hyperplasia (odds ratio 4.29; 95% confidence interval 1.30-14.20; P=0.02), with a negative predictive value of 98.3%. A thickness of or above 15 mm was associated with carcinoma (odds ratio 4.53; 95% confidence interval 1.20-17.20; P=0.03), with a negative predictive value of 98.5% and a 0.06% risk of cancer. CONCLUSION: Irrespective of conventional risk factors, an incidentally-found thickened endometrial lining of less than 15 mm might not warrant endometrial biopsy sampling among postmenopausal women without vaginal bleeding.

Sonographic biometry in the early third trimester: A comparison of parameters to predict macrosomia at birth.

PURPOSE: To compare the estimated fetal weight (EFW), abdominal circumference (AC), and femur length (FL), measured on sonographic (US) examinations at 28-34 weeks of gestation to determine the best predictor of macrosomia at birth. METHODS: We retrospectively evaluated 3,857 consecutive, term, singleton pregnancies. The AC, FL, and EFW were compared with birth weights (BW) of >4,000 g and >4,500 g. RESULTS: There was a statistically significant association between the AC and FL and a BW > 4,000 g or >4,500 g (p < 0.001) whether both or either were in the >90th percentile. There was no statistically significant association between an EFW in the >90th percentile and either BW cutoff. An AC in the >90th percentile alone was the best predictor for macrosomia at birth, with sensitivity, specificity, and positive and negative predictive values of 75%, 74%, 24%, and 96%, respectively (95% confidence intervals [CI]: 73-76%, 73-76%, 23-26%, and 96-97%, respectively), for a BW > 4,000 g. When an AC in the >90th percentile was used to predict a BW > 4,500 g, the sensitivity improved to 88%, but the positive predictive value fell to 5%. Receiver operating characteristic curves comparing the distributions of stratified AC values for BW cutoffs of 4,000 and 4,500 g found the highest areas under the curve of 0.80 (95% CI: 0.77-0.82) and 0.87 (95% CI: 0.83-0.90), respectively. CONCLUSIONS: An AC in the >90th percentile at 28-34 weeks' gestation is the best sonographic predictor of macrosomia at birth. © 2014 Wiley Periodicals, Inc. J Clin Ultrasound 43:243-248, 2015.

Maternal adaptations in preparation for parturition predict uncomplicated spontaneous delivery outcome.

OBJECTIVE: The objective of the study was to define maternal tissue adaptations in pregnancy associated with uncomplicated spontaneous vaginal delivery using anatomical and biological outcomes. STUDY DESIGN: Nulliparous gravidas were prospectively enrolled in the first trimester at 2 institutions. Demographic and delivery data were chart abstracted. Vaginal elastase activity (units per milligram of protein) and Pelvic Organ Prolapse Quantification measurements of pelvic organ support were obtained in the first and third trimesters. A subset underwent 3-dimensional ultrasound measures of levator hiatus. Uncomplicated spontaneous vaginal delivery (VD) was defined as no cesarean, forceps, vacuum, shoulder dystocia, third- or fourth-degree perineal laceration, or prolonged second stage labor. RESULTS: We enrolled 173 women in their first trimester, 50 of whom had ultrasounds. Mean age was 25.5 ± 5.5 years with a body mass index of 28.0 ± 7.3 kg/m(2). Sixty-seven percent were white/Caucasian, 27% black/African American, and 6% Hispanic/Latina. Mean delivery gestational age was 38.5 ± 2.9 weeks, with 23% delivering by cesarean and 59% achieving uncomplicated spontaneous VD. Vaginal support changed significantly over trimesters with posterior vaginal and hiatal relaxation, vaginal lengthening, and increased levator hiatus area during strain. Women achieving uncomplicated spontaneous VD demonstrated significantly greater relaxation on third-trimester Pelvic Organ Prolapse Quantification for anterior, apical, and hiatal measures than those without uncomplicated spontaneous VD. Higher first-trimester vaginal elastase activity was strongly associated with uncomplicated spontaneous VD (geometric mean activity 0.289 ± 0.830 U/mg vs -0.029 ± 0.585 U/mg, P = .009). Higher first-trimester elastase, younger age, lower first-trimester body mass index, and more third-trimester vaginal support laxity in points C and GH were predictive of VD success. CONCLUSION: Significant maternal adaptations occur in the vagina during pregnancy, presumably in preparation for vaginal delivery. Greater adaptation, including vaginal descent and higher first-trimester elastase activity, is associated with an increased likelihood of uncomplicated spontaneous VD.

The effect of maternal body mass index on fetal growth: use of individualized growth assessment and two-level linear modeling.

PURPOSE: To determine the effect of maternal body mass index on fetal growth using individualized growth assessment and two-level linear modeling. METHODS: A retrospective review of biometry in the second and third trimesters from 246 normal, term singleton fetuses was performed. Four to eight biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur diaphysis length (FDL) measurements per fetus were available and used to determine second-trimester growth rates. Expected third-trimester size trajectories were generated from these data and Percent Deviations [%Dev = ((observed - expected)/expected) × 100] were calculated. Two-level linear modeling was used to determine %Dev slopes and the effect of body mass index (BMI) on these slopes. Relationships between individual second- and third-trimester slopes and BMI were evaluated using linear regression. RESULTS: Linear regression analysis of second-trimester growth indicated no significant relationships between the fetal growth rate and the BMI in the second trimester [R(2) (adj): 0.0% to 1.0% except AC in one subgroup (5.6%)]. Regression analysis did not indicate a significant relationship (adj R(2) : 0%-0.2%) between BMI and third-trimester %Dev slopes for any anatomic parameter. Two-level statistical modeling showed no effect of BMI on BPD, AC, or FDL growth and only a moderate effect on the HC growth in the third trimester. CONCLUSIONS: Our findings indicate that the maternal BMI does not have an effect on fetal growth in either the second or the third trimester as determined with individualized growth assessment.

Prenatal midtrimester fetal long bone measurements and the prediction of small-for-gestational-age fetuses at term.

OBJECTIVE: To determine if the length of fetal long bones (LB) at mid-trimester ultrasound is predictive of small-for-gestational-age (SGA) newborns at term delivery. METHODS: Retrospective evaluation of 6,781 women between 18 and 24 weeks' gestation at Magee-Womens Hospital (MWH). Gestational age (GA) was confirmed by first- or second-trimester ultrasound and patient's last menstrual period. Data were accrued from the institutional database at MWH. LB measurements were normalized to GA at the time of the ultrasound. The ratio was correlated with the probability of delivering an SGA newborn at term. RESULTS: In all, 583 women were identified with an SGA newborn (8.6%). LB-to-GA ratios were associated with the probability of delivering an SGA newborn at term (p < 0.001). There was no single LB that proved to be superior in predicting an SGA newborn. CONCLUSION: There is a significant association between LB-to-GA ratio at midtrimester and the probability of SGA at term.

Longitudinal assessment of amniotic fluid volume in monoamniotic twin gestations.

OBJECTIVE: The aim of this study is to describe normal amniotic fluid volume through gestation in a cohort of normal monoamniotic (MA) twins. METHOD: Our ultrasound database was queried for MA twin gestations from 2004 to 2011. Monochorionic twin pregnancies mimicking MA gestations, such as twin-twin transfusion syndrome, were excluded. Complicated MA gestations and higher-order multifetal gestations involving an MA pair were excluded. Thirty subjects were followed with serial amniotic fluid index (AFI) measurements from 15 to 32 weeks gestation. Using each AFI measurement as a unique data point, a quadratic regression model and a multi-level growth model were developed against gestational age (GA), providing a predicted AFI at each completed week, with a 95% confidence interval. RESULTS: The quadratic regression least squares and multi-level growth models yielded the same curve comparing the AFI to the GA. Figure 1 depicts the model with the 95% confidence interval for normal amniotic fluid volume by GA for normal MA twins. Table 2 shows the 5th, 50th, and 95th percentiles for AFI by week from 15 to 32 weeks. CONCLUSION: We have generated normative data for amniotic fluid volume across gestation in uncomplicated MA twins. This can be used as a reference when managing MA pregnancies.

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

We describe the first reported case of a prenatally diagnosed and recently described 17q12 microdeletion syndrome. The fetus was noted to have a congenital diaphragmatic hernia (CDH), echogenic kidneys and cystic left lung on prenatal ultrasound. The patient underwent amniocentesis which resulted in a normal fluorescence in-situ hybridization and karyotype. An oligonucleotide microarray was then performed which demonstrated a 1.4-Mb deletion within the 17q12 region. The deletion caused haploinsufficiency for 17 genes, including AATF, ACACA, DDX52, DUSP14, GGNBP2, HNF-1B, LHX1, PIGW, SYNRG, TADA2A, and ZNHIT3. The deleted region on 17q12 is similar in size and gene content to previously reported 17q12 microdeletion syndromes, which have a minimal critical region of 1.52 Mb. The newly described 17q12 microdeletion syndrome has been associated with MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities. CDH has not been previously described with the 17q12 microdeletion syndrome. We hypothesize that CDH is part of the spectrum of this syndrome and likely not detected postnatally due to high prenatal mortality.

Innate immune function of the human decidual cell at the maternal-fetal interface.

The aim of the study was to investigate the innate immune function of decidual cells from term unlabored pregnancies by determining Toll-like receptor presence and function. Using immunohistochemistry, reverse transcriptase polymerase chain reaction and NF-kappaB-luciferase plasmid transfection, Toll-like receptor presence and function was determined. Decidual cells express Toll-like receptors 1, 2, 4 and 6 which respond to lipopolysaccharide and peptidoglycan stimulation producing Interleukin-8. Decidual cells from women at term have innate immune function and are capable of producing Interleukin responses to bacterial ligands.

Preterm premature rupture of membranes: diagnosis, evaluation and management strategies.

Preterm premature rupture of the membranes (PPROM) is responsible for one-third of all preterm births and affects 120,000 pregnancies in the United States each year. Effective treatment relies on accurate diagnosis and is gestational age dependent. The diagnosis of PPROM is made by a combination of clinical suspicion, patient history and some simple tests. PPROM is associated with significant maternal and neonatal morbidity and mortality from infection, umbilical cord compression, placental abruption and preterm birth. Subclinical intrauterine infection has been implicated as a major aetiological factor in the pathogenesis and subsequent maternal and neonatal morbidity associated with PPROM. The frequency of positive cultures obtained by transabdominal amniocentesis at the time of presentation with PPROM in the absence of labour is 25-40%. The majority of amniotic fluid infection in the setting of PPROM does not produce the signs and symptoms traditionally used as diagnostic criteria for clinical chorioamnionitis. Any evidence of infection by amniocentesis should be considered carefully as an indication for delivery. Documentation of amniotic fluid infection in women who present with PPROM enables us to triage our therapeutic decision making rationally. In PPROM, the optimal interval for delivery occurs when the risks of immaturity are outweighed by the risks of pregnancy prolongation (infection, abruption and cord accident). Lung maturity assessment may be a useful guide when planning delivery in the 32- to 34-week interval. A gestational age approach to therapy is important and should be adjusted for each hospital's neonatal intensive care unit. Antenatal antibiotics and corticosteroid therapies have clear benefits and should be offered to all women without contraindications. During conservative management, women should be monitored closely for placental abruption, infection, labour and a non-reassuring fetal status. Women with PPROM after 32 weeks of gestation should be considered for delivery, and after 34 weeks the benefits of delivery clearly outweigh the risks.

An evidence-based approach to the evaluation and treatment of premature rupture of membranes: Part I.

UNLABELLED: Preterm premature rupture of membranes (PPROM) occurs in 3% of pregnancies and is responsible for one third of all preterm births. PPROM will affect 120,000 women in the United States each year. It is associated with significant maternal, fetal, and neonatal morbidity and mortality resulting from infection, umbilical cord compression, abruptio placentae, and prematurity. The etiology is multifactorial, but the most significant risk factors are previous preterm birth and previous preterm premature rupture of membranes. Accurate diagnosis is extremely important to assure proper treatment. Evaluation is based on patient history and clinical examination. This review presents the available evidence and grades it according to the U.S. Preventative Task Force recommendations. In part I of this review, the definition, pathophysiology, and methods of PPROM diagnosis are presented. In part II, the management, treatment, neonatal outcome, and the maternal and fetal evaluation of women with PPROM in the presence of cerclage and medical complications is reviewed. LEARNING OBJECTIVES: After completion of this article, the reader should be able to define the term: preterm premature rupture of membranes, to list the factors associated with premature rupture of membranes, and to outline the tests available for the diagnosis of intra-amniotic infection.