Fetal Medicine

Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a ...

ObjectivesFollowing perinatal death, organ weights at autopsy may provide evidence of growth restriction and pulmonary hypoplasia. Whilst postmortem magnetic resonance imaging (MRI) may provide comparable information to autopsy about structural abnormalities, its ability to provide reproducible data about organ size has yet to be determined. We examined the feasibility of using postmortem MRI to provide estimates of organ size and weight.Following perinatal death, organ weights at autopsy may provide evidence of growth restriction and pulmonary hypoplasia. Whilst postmortem magnetic resonance imaging (MRI) may provide comparable information to autopsy about structural abnormalities, its ability to provide reproducible data about organ size has yet to be determined. We examined the feasibility of using postmortem MRI to provide estimates of organ size and weight.MethodsTwenty-five fetuses of gestational age from 16 to 40 weeks underwent postmortem MRI prior to autopsy. Fetal lung, brain and liver volume estimations were performed by two observers using the stereology technique on postmortem MRI slices. Fetal lung, brain and liver weights were recorded at autopsy. Organ volume estimates and autopsy organ weights were compared using regression analysis, and estimates of fetal organ densities made. Interobserver variability was assessed using a Bland–Altman plot. Receiver–operating characteristics curve (ROC) analysis compared MRI brain : liver volume ratios to autopsy brain : liver weight ratios.Twenty-five fetuses of gestational age from 16 to 40 weeks underwent postmortem MRI prior to autopsy. Fetal lung, brain and liver volume estimations were performed by two observers using the stereology technique on postmortem MRI slices. Fetal lung, brain and liver weights were recorded at autopsy. Organ volume estimates and autopsy organ weights were compared using regression analysis, and estimates of fetal organ densities made. Interobserver variability was assessed using a Bland–Altman plot. Receiver–operating characteristics curve (ROC) analysis compared MRI brain : liver volume ratios to autopsy brain : liver weight ratios.ResultsA linear relationship between organ volume estimates and organ weight was observed. Estimated densities for the fetal brain, liver and lung were 1.08 g/cm3, 1.15 g/cm3 and 1.15 g/cm3, respectively. Interobserver 5th and 95th percentile limits of agreement for fetal brain, liver and lung were − 5.4% to + 7.9%, − 11.8% to + 8.3% and − 14.3% to + 8.7%, respectively. For MRI organ volumes to detect a brain weight : liver weight ratio ≥ 4, ROC analysis demonstrated an area under the curve of 0.61, with an optimal cut-off of 4.1.A linear relationship between organ volume estimates and organ weight was observed. Estimated densities for the fetal brain, liver and lung were 1.08 g/cm3, 1.15 g/cm3 and 1.15 g/cm3, respectively. Interobserver 5th and 95th percentile limits of agreement for fetal brain, liver and lung were − 5.4% to + 7.9%, − 11.8% to + 8.3% and − 14.3% to + 8.7%, respectively. For MRI organ volumes to detect a brain weight : liver weight ratio ≥ 4, ROC analysis demonstrated an area under the curve of 0.61, with an optimal cut-off of 4.1.ConclusionPostmortem MRI organ volumetry can be used to estimate weights of major fetal organs. This may increase the information obtained from a minimally-invasive perinatal autopsy, particularly in the context of pulmonary hypoplasia and intrauterine growth restriction, where differential organ growth plays a major part in assessment of the underlying pathology. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.Postmortem MRI organ volumetry can be used to estimate weights of major fetal organs. This may increase the information obtained from a minimally-invasive perinatal autopsy, particularly in the context of pulmonary hypoplasia and intrauterine growth restriction, where differential organ growth plays a major part in assessment of the underlying pathology. Copyright © 2007 ISUOG. Published by John Wiley & Sons, Ltd.

Abstract
Background & aim: Objectives are antenatal fetal assessment in diabetic mother to detect congenital anomalies through evaluation of fetal biophysical profile using 2D US & Doppler study of umbilical artery & intracranial arteries for assessment of placental blood flow is our concern.
Patient & method: The study includes 30 singleton diabetic pregnant women. It was conducted in Mansoura University Hospital between June 2011 to Jan 2013. They were divided into high risk group & low risk group. 2D US study includes fetal biometry (Biparietal diameter, femur length & abdominal circumference). Doppler study includes (umbilical artery, middle cerebral artery & uterine artery).
Results: Cut-off point of umbilical artery RI is (0.67), PI is (1.12) & S/D ratio is (2.87). Cut-off point of MCA RI is (0.61), PI is (1.31) & S/D ratio is (2.92). Cut-off point of uterine artery RI is (0.61) & C/U ratio is (1.22). Major multisystemic congenital anomalies are seen in high risk group; otherwise low risk group is normal.
Conclusion: Conventional ultrasound has a role in assessment of fetal wellbeing & fetal growth rate. Doppler velocimetry examination adds significant data in management of complicated gestational DM associated with other medical disorders.
Keywords: 2D ultrasonography, Doppler, diagnosis, fetal complication, diabetic mother.