Genetic Profiling of Idiopathic Antenatal Intracranial Haemorrhage: What We Know?

Intracranial hemorrhage (ICH) is reported in premature infants and rarely, in prenatal life. Fetal ICH can be accurately identified in utero and categorized by antenatal sonography and/or MRI. Infectious disease, maternal drug exposure, alloimmune thrombocytopenia, maternal trauma, coagulation disorders and twin-to-twin transfusion syndrome can cause fetal ICH. However, in many cases, the cause is not identified and a genetic disorder should be taken into consideration. We conducted a review of the literature to investigate what we know about genetic origins of fetal ICH. We conducted targeted research on the databases PubMed and EMBASE, ranging from 1980 to 2020. We found 311 studies and 290 articles were excluded because they did not meet the inclusion criteria, and finally, 21 articles were considered relevant for this review. Hemostatic, protrombotic, collagen and X-linked GATA 1 genes were reported in the literature as causes of fetal ICH. In cases of ICH classified as idiopathic, possible underlying genetic causes should be accounted for and investigated. The identification of ICH genetic causes can guide the counselling process with respect to the recurrence risk, in addition to producing relevant clinical data to the neonatologist for the optimal management and prompt treatment of the newborn.

Vanishing Non-immune Hydrops in Giant Chorioangioma of Placenta

Giant Chorioangioma of placenta is a rare nontrophoblastic tumour of placenta. It may lead to various maternal and foetal complications like massive antepartum haemorrhage, sudden intrauterine foetal demise and non-immune hydrops, although in few cases mother and the foetus remain unaffected. This report is of a 35-year-old G3P1L1A1, presented to hospital at 32 weeks gestation with pain abdomen followed by watery discharge from vagina. Ultrasonography at 30 weeks revealed a huge mass on anterior wall with placenta on posterior wall of uterus although her previous antenatal sonography did not reveal any abnormality either in the foetus or in placenta. Diagnosis of preterm rupture of membranes was confirmed. Hence, she was kept on conservative management; received antibiotics and steroids for foetal lung maturity. Subsequently, the foetus developed mild, steady non-immune hydrops probably due to high output cardiac failure as Values of Middle Cerebral Artery’s Peak Systolic Velocity (MCA-PSV) were within normal limits. Biophysical profile and nonstress test were normal. Guarded foetal prognosis was given due to non-immune hydrops but she delivered a normal female baby with good Appearance, Pulse, Grimace, Activity and Respiration (APGAR) score with huge chorioangioma of placenta. Although rare, chorioangiomas of placenta should be kept in differential diagnosis of non-immune hydrops that needs regular foetal surveillance and timely intervention in affected foetuses to increase survival after birth.

The Mechanism of Prune Belly Syndrome Development: A Sonographic Sequential Assessment

Prune belly syndrome is a rare disorder characterized by the absence of anterior abdominal wall muscles, bilateral cryptorchidism, and urinary tract malformations. The aim of this case study was to illustrate the developmental sequelae of prune belly syndrome, acquired through a series of antenatal sonography. A 20-year-old woman visited a diagnostic medical sonography center for an obstetrical sonogram. Her fetus was diagnosed with megacystis at 15 weeks’ gestation. The mother returned for repeated appointment and to observe fetal changes during the development of prune belly syndrome. First, the megacystis, hydroureter, and hydronephrosis were noted followed by hazy ascitic and amniotic fluid. The hemodynamics were altered in the umbilical artery, middle cerebral artery, and ductus venosus. Subsequently, the pressure was neutralized, but it was observed after birth that the newborn had cryptorchidism, a distended abdomen with wrinkled wall, and absent right kidney. In conclusion, prune belly syndrome could be caused by megacystis due to bladder outlet obstruction in otherwise normal karyotype fetuses. Megacystis leads to hydroureter, hydronephrosis, and abdominal distention. The persistent abdominal distention gives rise to the underdevelopment of anterior abdominal wall muscles and cryptorchidism.

Fetal Anomalies Associated with Novel Pathogenic Variants in TMEM94

Background: Intellectual developmental disorder with cardiac defects and dysmorphic facies (IDDCDF, MIM 618316) is a newly described disorder. It is characterized by global developmental delay, intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Biallelic pathogenic variants of TMEM94 are associated with IDDCDF. Methods and Results: In a prenatal setting, where fetal abnormalities were detected using antenatal sonography, we used trio-exome sequencing (trio-ES) in conjunction with chromosomal microarray analysis (CMA) to identify two novel homozygous loss of function variants in the TMEM94 gene (c.606dupG and c.2729-2A>G) in two unrelated Saudi Arabian families. Conclusions: This study provides confirmation that TMEM94 variants may cause IDDCDF. For the first time we describe the pathogenicity of TMEM94 defects detected during the prenatal period.

The fate of antenatal renal pelvis dilatation: a prospective postnatal cohort study

Background: To assess the outcome of fetal hydronephrosis, based on antenatal sonography and to find the best cutoff APD of renal pelvis which lead to surgical outcome.Methods: All patients diagnosed with isolated fetal renal pelvic dilatation (RPD) were prospectively followed between January 2016 and December 2018. RPD was classified according to SFU grading into four grades and by APD classification to 3 groups. Group I (5-9.9 mm), group II (10-14.9 mm) and group III (≥15 mm).Results: Among a total of 57 patients, group I had 32 renal units, none required surgery; group II had 19 renal units, 5 (7.04%) required surgery; group III had 20 units, 11 (15.49%) required surgery. The difference in outcome between the groups was statistically significant (p=0.001). The causes of fetal hydronephrosis was transitional in 33.33%, pelvi ureteric junction obstruction in 33.33%, vesico ureteral reflux in 29.82%, and 3.5 % had posterior urethral valves. Of the 38 infants with RPD, urinary tract infection was seen in 36.84%. Thirty-four patients had MCUG of whom 29.82% had VUR. In 38 patients DTPA was performed with following results: 10.53% had partial obstruction and 14.04% showed complete obstruction.Conclusions: Fetal hydronephrosis less than 5mm runs a benign course. In APD greater than 15 mm and bilateral disease thorough postnatal evaluation and regular follow-up is necessitated for timely intervention. The best cutoff point of anteroposterior renal pelvis diameter that led to surgery was 15 mm, with sensitivity 91% and specificity 73.5%.

Placental thickness: an important parameter in determining gestational age and fetal growth during ANC scan

Background: Gestational Age (GA) is one of the most imperative parameters required for proper management in pregnancy. Routinely GA is estimated by sonography utilising Biparietal Diameter (BPD), Femur Length (FL), Abdominal Circumference (AC) and Head Circumference (HC). In any case, these parameters have some limitations. Hence, there is need to find other parameters that may complement the established fetal biometric parameters in predicting GA. The objective of the present study was to assess placental thickness in second and third trimester pregnancies and its relationship with fetal gestational age and its role in detecting LBW and IUGRMethods: A cross sectional prospective study was carried out in three hundred pregnant women between 13 to 40 weeks of gestation, who came for routine antenatal sonography. Placental thickness was measured along with routine parameters. Placental thickness was measured at the level of umbilical cord insertion by two-dimensional ultrasonography.Results: Correlation between the GA by LMP and Placental thickness by ultrasound was done by using Karl Pearson's Correlation(r). The values were expressed as mean + standard deviation. Correlation between placental thickness and gestational age was statistically significant as p value is <0.01. Placental thickness measured in millimetres increases with gestational age in second and third trimester.Conclusions: The correlation between the placental thickness and gestational age was linear and direct. Therefore, Placental thickness is used as a predictor for estimation of gestational age of the fetus in cases where LMP is not known and in detecting developing IUGR and low birth weight.