Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.

OBJECTIVE: Trisomy 13 (T13) and 18 (T18) are aneuploidies associated with multiple structural congenital anomalies and high rates of fetal demise and neonatal mortality. Historically, patients with either one of these diagnoses have been treated similarly with exclusive comfort care rather than invasive interventions or intensive care, despite a wide phenotypic variation and substantial variations in survival length. However, surgical interventions have been on the rise in this population in recent years without clearly elucidated selection criterion. Our objective was to create a standardized approach to counseling expectant persons and parents of newborns with T13/T18 in order to provide collaborative and consistent counseling and thoughtful approach to interventions such as surgery. STUDY DESIGN: This article describes our process and presents our resulting clinical care guideline. RESULTS: We formed a multi- and interdisciplinary committee. We used published literature when available and otherwise expert opinion to develop an approach to care featuring individualized assessment of the patient to estimate qualitative mortality risk and potential to benefit from intensive care and/or surgeries centered within an ethical framework. CONCLUSION: Through multidisciplinary collaboration, we successfully created a patient-centered approach for counseling families facing a diagnosis of T13/T18. Other institutions may use our approach as a model for developing their own standardized approach. KEY POINTS: · Trisomy 13 and trisomy 18 are associated with high but variable morbidity and mortality.. · Research on which patients are most likely to benefit from surgery is lacking.. · We present our institution's framework to counsel families with fetal/neonatal T13/T18..

An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.

BACKGROUND: We examined a large number of variables to generate new hypotheses regarding a wider range of risk factors for anophthalmia/microphthalmia using data mining. METHODS: Data were from the National Birth Defects Prevention Study, a multicentre, case-control study from 10 centres in the United States. There were 134 cases of "isolated" and 87 "nonisolated" (with other major birth defects) of anophthalmia/microphthalmia and 11 052 nonmalformed controls with delivery dates October 1997-December 2011. Using random forest, a data mining procedure, we compared the two case types with controls for 201 variables. Variables considered important ranked by random forest were included in a multivariable logistic regression model to estimate odds ratios and 95% confidence intervals. RESULTS: Predictors for isolated cases included paternal race/ethnicity, maternal intake of certain nutrients and foods, and childhood health problems in relatives. Using regression, inverse associations were observed with greater maternal education and with increasing intake of folate and potatoes. Odds were slightly higher with greater paternal education, for increased intake of carbohydrates and beans, and if relatives had a childhood health problem. For nonisolated cases, predictors included paternal race/ethnicity, maternal intake of certain nutrients, and smoking in the home the month before conception. Odds were higher for Hispanic fathers and smoking in the home and NSAID use the month before conception. CONCLUSIONS: Results appear to support previously hypothesised risk factors, socio-economic status, NSAID use, and inadequate folate intake, and potentially provide new areas such as passive smoking pre-pregnancy, and paternal education and ethnicity, to explore for further understanding of anophthalmia/microphthalmia.

Neonatal echocardiogram in duodenal obstruction is unnecessary after normal fetal cardiac imaging.

BACKGROUND: Duodenal obstruction (DO) is associated with congenital cardiac anomalies that may complicate the delivery of anesthesia during surgical repair. As most infants undergo fetal ultrasounds that identify cardiac anomalies, our aim was to determine the utility of obtaining preoperative neonatal echocardiograms in all DO patients. METHODS: We conducted a retrospective cohort study of all DO patients treated at two tertiary care children's hospitals between January 2005 and February 2016. Prenatal ultrasounds were compared to neonatal echocardiograms to determine concordance. Binomial exact analyses were used to estimate the negative predictive value (NPV) of prenatal imaging. RESULTS: We identified 65 infants with DO. The majority of patients (93.8%) had prenatal ultrasounds, including twenty patients that underwent fetal echocardiogram. Fourteen (21.5%) were diagnosed with cardiac lesions in utero, and neonatal echocardiograms confirmed 12 lesions, without identifying any new lesions. No changes to anesthetic management were made because of cardiac lesions. The NPV of prenatal imaging was 100% (95% Confidence Interval: 91.0-100.0). CONCLUSIONS: Neonatal echocardiogram is unlikely to identify new cardiac lesions in DO patients with negative fetal imaging and delays in surgical care are unwarranted. LEVELS OF EVIDENCE: Study of Diagnostic Test-Level II.

Eliminating first trimester markers: will replacing PAPP-A and ßhCG miss women at risk for small for gestational age?

OBJECTIVE: Placental analytes are traditionally used for aneuploidy screening, although may be replaced by cell-free fetal DNA. Abnormal analytes also identify women at risk for small for gestational age (SGA). We sought to quantify the proportion of women at risk for SGA by low pregnancy-associated plasma protein-A (PAPP-A) or ßhCG who would not otherwise be identified by maternal risk factors. METHODS: We studied first-trimester PAPPA-A and ßhCG from 658 euploid singleton pregnancies from a prospective longitudinal cohort. Analytes were standardized for gestational age in multiples of the median (MoM). SGA was defined as birthweight z-score ≤-1.28. Maternal risk factors included chronic hypertension, pre-gestational diabetes and age ≥40. RESULTS: Mean GA was 38.8 ± 1.9 weeks; 6.8% had a SGA infant. Low PAPP-A and ßhCG were identified in 48 (7.4%) and 9 (1.4%) of pregnancies, respectively, of whom 18.9% were SGA (OR 3.0, 95% CI 1.4-6.3). 88% did not have risk factors for SGA. Among women with no risk factors, low PAPP-A was a significant predictor of SGA (OR 3.3, 95% CI 1.5-7.4). CONCLUSION: Most women with abnormal analytes did not have risk factors for SGA. Eliminating PAPP-A and ßhCG may present missed opportunities to identify women at risk for SGA.