OC10.01: Neurodevelopmental outcome of microcephaly diagnosed during pregnancy

Abstract

Oral communication abstractsEP in women with an IMLE in combination with HCG levels were calculated. Results: The prevalence of EP was 3.7% in this population of women who attended our early pregnancy unit. A total of 1627 women were scanned, of which 134 (8%) were classified as PUL. Of the PUL group, 27 women were subsequently diagnosed with EP or persistent PUL requiring treatment (20%), 89 women with failing PULs (66%) and 18 women with IUPs (14%). Of the 134 women with a diagnosis of PUL, 37 had an IMLE and 97 had a disrupted MLE on ultrasound. The incidence of EP in those with IMLE was significantly higher than those with a disrupted MLE {13(35%) v 14(14%) (p<0.01), RR 2.05 (95% confidence interval 1.2-3.5)}. An IMLE alone to predict EP had a sensitivity of 49%, specificity of 78% and a positive LR of 2.13. Combining an IMLE and HCG 48hr/0hr ratio 0.67-1.66 (plateau) predicted EP with a sensitivity of 41%, specificity of 93% and a positive LR of 5.4. Conclusions:In combination with the HCG ratio, the sonographic appearance of an IMLE may be a useful predictor of EP in women with a PUL. Methods: Prospective observational study. Pregnant women presenting to our EPU in the study period underwent transvaginal scan (TVS). Women with TVS diagnosis of an ectopic pregnancy (tubal or non-tubal) were offered either conservative (expectant or medical) or surgical management depending on her clinical state, ultrasound findings and pre-treatment hCG ratio (hCG 48 h/hCG 0 h). Expectant management was offered to clinically stable women with hCG ratio < 1; medical management was offered to clinically stable women with hCG ratio > 1. If a woman was clinically unstable, and/or fetal cardiac activity was noted on TVS and/or there was significant haemoperitoneum was noted on TVS, then surgery (salpingectomy) was performed. More than 30 historical, clinical, TVS and biochemical variables were recorded for analysis. TVS measurements included endometrial thickness (ET), type of EP, blood in POD/Morison's pouch & subjective power Doppler colour scores (PDCS). Serum hCG 0 h & hCG ratio underwent logarithmic (log) transformation for comparison. These recorded variables were analysed to determine presence of significance between three groups. P-values < 0.05 represented statistical significance. Results: 1395 consecutive women presented to EPU. 5.3% (75/1395) were diagnosed EP. Complete data available on 73 EPs. The three management groups were compared: the most significant variables were ET (p=0.0086), vaginal bleeding with clots (p=0.0110), PDCS 1 (p=0.0241) and log serum hCG 0 h (p=0.0012) were all significant variables. Conclusions: These preliminary results demonstrate only a few variables were significantly different between non-surgical and surgical management arms. We are now developing a new model to predict successful conservative management. Objective: Microcephaly is defined as a head circumference smaller than 2 or 3 standard deviations. The prenatal counseling for fetuses with isolated microcephaly is complex as there ...

Small size, big problems: insights and difficulties in prenatal diagnosis of fetal microcephaly

“…When these children were compared with children who had normal fetal cephalic biometry during the third trimester, and were matched for age and gender, there were no statistically significant differences between the two groups in cognition, language, and motor functioning. In contrast, there were statistically significant differences in behavioral problem scales (Stoler-Poria et al, 2010). The false positive rate is lower (about 40%) when defining fetal microcephaly as a HC of 3 or more SD below the mean for gestational age.…”

“…This reference was retrospectively applied to 25 fetuses diagnosed with microcephaly with HC ≥ 3 SD below the mean for gestational age. The FCD was found to correlate well with gestational age and its combination with fetal HC measurement improved diagnostic accuracy (raised the PPV from 56 to 78%), and decreased the rate of false positive cases, without missing any of the cases of microcephaly at birth (Stoler-Poria et al, 2010;Leibovitz et al, 2016b).…”

“…Some reports have shown that low birth weight term infants with no additional diagnoses other than microcephaly, who were diagnosed by the age of 1 year, can expect a better outcome compared with those with a birth weight over 2,500 g and microcephaly (Brennan et al, 2008;Dolk, 2008). No significant difference was shown between children 2-6 years of age with symmetrical IUGR and children with a small head but normal in-utero body growth (Stoler-Poria et al, 2010), although there was a trend toward better motor functioning in the non-IUGR group.…”

“…This is accentuated by the absence of properly designed studies taking into consideration gender and ethnicity factors (Leibovitz and Lerman-Sagie, 2018). Methodological differences between prenatal and postnatal measurement of HC (discussed earlier in this paper), combined with different fetal HC measurement methods (calculated from biparietal diameter (BPD) and occipitofrontal diameter (OFD) as: HC = 1.62 × (BPD + OFD) or by measurement of an ellipse drawn around the outside of the calvarium) (Salomon et al, 2011), different refence charts, interobserver variability and differences in technical quality all contribute to diagnostic inaccuracies (Stoler-Poria et al, 2010;Leibovitz et al, 2016a).…”

“…The prenatal diagnosis of microcephaly is also subject to false negative diagnosis. As previously discussed, the diagnostic criteria for microcephaly differ between fetuses and neonates, thus cases with a HC 2SD below the mean for gestational age, but not below 3SD, may go undiagnosed (Stoler-Poria et al, 2010). Furthermore, a progressive deceleration of head circumference growth during either the second or third trimesters may indicate the development of postnatal microcephaly, as observed in patients with Calcium/calmodulindependent serine protein kinase (CASK) loss of function variants causing microcephaly with pontocerebellar hypoplasia (MICPCH).…”