Fetal Medicine

Cystic Lesion in the Fetal Scalp: A Systematic Approach Abstract During an anomaly scan, cystic lesion in the scalp may be encountered while examining the fetal head. Some of these originate from the scalp tissue and can be dealt with postnatally by simple excision. Others may be more than just scalp cysts and have an intracranial communication. The objective of this communication is to illustrate a few cystic lesions in the fetal scalp and suggest a systematic approach in arriving at a diagnosis.

Role of TUI in First Trimester Evaluation of Palate Abstract The purpose of the study is to report on the application of tomographic ultrasound imaging (TUI) in prenatal sonographic study of fetal palate in 11–14 week scan. TUI is a technology that allows the examiner to obtain a volume data set that allows the display of numerous 2D slices from a given volume on any of the three orthogonal planes. It allows automatic slicing of the volume datasets displaying multiple parallel images. The fetal palate was examined with TUI in thirteen abnormal volumes and in ninety-four normal volumes. The appearance of maxillary line in sagittal sections and the base of the retronasal triangle in coronal sections serve as key landmarks in evaluating palatine clefts. The intact palatal line in sagittal sections was observed in all the ninety-four normal volumes. The midline anatomy of the palate has been described in the study emphasising that the vomer can mimic palate in midsagittal section in secondary palatine clefts. The parasagittal sections truly reflects the presence or absence of the palate without the confounding factor of the vomer bone which was demonstrated in the abnormal volumes with TUI. The potential advantage of TUI in evaluating palate is that it allows the display of both midsagittal and parasagittal sections simultaneously. The different types of cleft have a constant reproducible pattern in TUI imaging which can be used to diagnose palatine clefts including isolated cleft of palate. Prospective studies are needed to confirm these promising results.

Antenatal Presentation of TMEM5 Gene-Associated Congenital Muscular Dystrophy Expanding the Phenotypic and Genotypic Spectrum Abstract We describe a clinicoautopsy phenotype of an occipital skull defect, ventriculomegaly, agenesis of corpus callosum and Dandy Walker Malformation (DWM) with a novel single base insertion in the TMEM5 gene, known to cause Walker Warburg syndrome. The clinical features of DWM extends the phenotype, while the pathogenic variant observed expands the mutational spectrum of the syndrome. This case highlights the importance of detailed postnatal phenotyping after a pregnancy is discontinued for an antenatallly detected malformation. Fetal samples must also be preserved for genetic tests to allow an etiological diagnosis in these situations. It is important for the fetal medicine specialists to remember to test for single gene disorders, after a normal chromosomal microarray especially in case of recurrence of a disease in a family.

Two Dimensional Visualization of Optic Chiasma in Fetus Abstract The purpose of this study is to investigate methods to visualize and measure the fetal optic chiasma (OC) using transabdominal and/or transvaginal two-dimensional (2D) ultrasound in the coronal plane. The role of analyzing optic chiasma cannot be down scaled in prognosticating septo-optic dysplasia (SOD) and agenesis of septum pellucidum. This is a retrospective study of 117 random cases referred for various indications. The gestational age of the fetuses included in the study was between 19 and 37 weeks. The OC was visualized and measured in the 2D coronal plane with color Doppler by transabdominal and/or transvaginal routes. There were 97 normal low risk cases and 19 abnormal cases in the study. We conclude that it is possible to locate and measure OC width by transabdominal and transvaginal scans from 19 week onwards. It is possible to get equally good views by both, transabdominal and transvaginal routes.

Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report Abstract Antenatally diagnosed echogenic kidneys have several underlying etiologies such as aneuploidies, monogenic isolated or syndromic polycystic kidney disease, infections and rarely with inborn error of metabolism. Even a careful evaluation for additional abnormalities may not be able to provide a specific diagnosis. However with next generation sequencing, the diagnostic odyssey can be ended successfully. We report one such case of carnitine palmitoyltransferase II deficiency (CPT2) deficiency that manifested as isolated echogenic kidneys with early neonatal demise where successful early prenatal diagnosis was possible in the subsequent pregnancy.

First Trimester Diagnosis of Sirenomelia: A Case Report Abstract Sirenomelia or the mermaid syndrome is a rare and lethal congenital anomaly. It is characterized by fusion of lower extremities. It is associated with bilateral renal agenesis, anomalies of rectum, sacrum, cardiovascular system and abdominal wall. Pathognomic finding is a single umbilical artery, the 'persistent vitelline artery' which distinguishes sirenomelia from caudal regression syndrome. Sirenomelia has strong association with maternal diabetes mellitus. We report a case of sirenomelia diagnosed in first trimester. Early diagnosis was possible as protocol-based anatomic evaluation was performed. Diagnosis of sirenomelia is easier in first trimester as severe oligohydramnios in later gestation hampers the fetal evaluation.

Role of Autopsy in Diagnosis and Genetic Counselling of Congenital Malformations: a Prospective Analytical Study Abstract The study aimed to determine the role of autopsy in refining the antenatal diagnosis of fetal anomalies and its effect on genetic counseling. The objectives of the study were to correlate the findings of antenatal ultrasound with that of perinatal autopsy, to determine the contribution of autopsy in refining the antenatal diagnosis and whether it altered the genetic counseling. This was a prospective, non-interventional analytical study conducted in the Department of Obstetrics and Gynaecology, JIPMER with the approval of Institutional Ethics Committee. Fourty-six fetuses which were stillborn/aborted or expired in newborn period due to congenital malformations were included. The findings of antenatal ultrasound were correlated with postnatal autopsy findings. The genetic counselling based on antenatal findings were compared with that based on postnatal findings and any change in the counselling given were noted and analysed. More than 70% of anomalies among the 46 fetuses included in the study were detected by the mid trimester anomaly scan. Male predominance was seen in this study (24 male fetuses). A definitive diagnosis or documentation of anomalies by autopsy was possible in all 46 fetuses (100%). Single system anomalies were noted in 24 (52.17%) fetuses and multisystem involvement was observed in 19 (41.3%) fetuses. Among fetuses with multiple malformation syndrome, 15.8% of fetuses had probable single gene etiology, 26.3% were probably sporadic and 57.9% were unclassified. Autopsy was valuable in prenatal genetic counseling by confirming the USG findings with (5) or without additional information (30) in 35/46 (76.1%) cases and by changing the diagnosis in 11/46 (23.9%) cases. Autopsy led to refinement of the recurrence risk in 23.9% of cases (increased in 19.6% and decreased in 4.3%). From the present study, we conclude that the results demonstrate a good correlation between prenatal diagnosis by USG and post mortem diagnosis by autopsy. Prenatal ultrasound and postnatal autopsy are complementary and supplement each other. The value of autopsy in reconfirming the ultrasound finding and providing additional information is irrefutable. Though autopsy may not provide exact diagnosis or establish definitive etiology, it is an invaluable tool for genetic counseling in fetal anomalies.

Placento-Cranial Adhesion: A New Syndromic Association Abstract Cases of placento-cranial adhesion are rare and most of them are incompatible with life. A few case reports in the literature have included such cases under the overarching rubric of amniotic band syndrome. We present autopsy findings of four cases with gestation period ranging from 16 to 21 weeks. All of them displayed placenta-cranial adhesion, low weight for gestation, absence of flat bones of skull, anencephaly, dysmorphic facial features, short umbilical cord and limb/digit amputation with oligohydrambios. Three out of four showed nasal groove. We propose that there are grounds for syndromic association of the features mentioned above. Furthermore, it is important that whenever such cases are identified termination of pregnancy should be considered. The article also underscores the importance of fetal autopsies.

Looking Back at Fetal Medicine in India in 2018, and Looking Forward to 2019

Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences Abstract To describe the utilization of Next Generation Sequencing technologies for genetic counseling and prenatal diagnosis. Ten families requested prenatal testing in view of previously affected offspring with genetically heterogeneous/hitherto undiagnosed disorders. Next generation sequencing was offered as a first tier investigation (1) in the probands who had not been diagnosed by baseline investigations, and (2) in cases where preliminary examination/testing suggested a genetically heterogeneous disorder, while the precise diagnosis was not available. The subsequently identified molecular basis enabled prenatal testing. The disorders included primary microcephaly, epidermolysis bullosa, inborn error of metabolism, infantile hypotonia, neuro-regression and sensorineural hearing loss. Five out of ten couples approached us during an ongoing pregnancy with two in the second trimester of gestation. Demise of the proband resulted in incomplete investigations in three cases. In seven cases, the disorder suspected was genetically heterogeneous and hence next generation testing was carried out while in the remaining three it was performed to ascertain the underlying gene involved. Fetal analysis detected recurrences in two cases, and the couples concerned decided to discontinue the pregnancies. Next generation sequencing proved a useful tool in select situations to overcome some of the challenges hindering a precise diagnosis in genetically heterogenous disorders.

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com