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To evaluate the impact of discordant Crown Rump Length (CRL) noted in the first trimester on the outcome of monochorionic (MC) and dichorionic (DC) twin gestations and to establish it's role as a predictor of adverse outcomes. This was a retrospective case control study carried out at a tertiary fetal medicine centre in South India between June 2013 and May 2018. Cases were obtained from the database of the centre. All viable monochorionic diamniotic (MCDA) and dichorionic diamniotic (DCDA) twin pregnancies scanned between 11 and 14 weeks gestational age after excluding fetuses with structural abnormalities were included in the study. The impact of discordant CRL ≥ 10% on the outcomes of twins was evaluated. Among 2627 twin pregnancies 2298 (87.5%) were dichorionic and 329 (12.5%) were monochorionic. Among the DC twin pregnancies CRL discordance ≥ 10% was found in 124 (5.4%) while 2174 (94.6%) were concordant. Among the MC twin pregnancies CRL discordance ≥ 10% was found in 20 (6.1%) while 309 (93.9%) were concordant. In DC twin pregnancies we found a significant association between CRL discordance of ≥ 10% and fetal loss (p = 0.001), mean GA at delivery (p = 0.002) and mean birth weight (p = 0.04). However in MC twin pregnancies we did not find any association between discordant CRL and adverse outcomes. When the CRL discordance cutoff was increased to ≥ 16% (95th centile), there was a significant increase in the aforementioned adverse outcomes in DC twin pregnancies while in MC twin pregnancies there was a significant increase in fetal loss (p = 0.027). To evaluate CRL discordance as a predictor of adverse outcomes, receiver operating curves were created for each outcome studied. But they failed to show the predictive accuracy in both CRL ≥ 10% and CRL ≥ 16% groups. CRL discordance in DC twin pregnancies are more commonly associated with adverse outcomes than MC twin pregnancies and it significantly increases when CRL C 16% (95th centile) was used as cutoff. Hence CRL discordance of ≥ 16% should be set as the cutoff to identify pregnancies at risk. However we reiterate that discordant CRL, irrespective of the cutoff used, is not a robust predictor of adverse outcomes.

Diagnostic prenatal invasive testing currently forms an integral and extremely significant component of the practice of obstetric care and has a twofold purpose. The primary aim is to offer management options and informed decision making to pregnant women and their companions. The secondary aim is to ensure that every fetus has an optimal outcome. Currently, most professional societies offer guidelines on prenatal invasive testing based on specific indications. Society of Fetal Medicine (SFM) clinical practice recommendations are developed for use by all practitioners of fetal and maternal healthcare. They are intended to facilitate a reasonable standard of care by the entire medical community. Practitioners are encouraged to go beyond these standards in relevant clinical situations. This document has been drafted after extensive inputs and discussions by practitioners and experts, followed by a consensus.

The primary objective of the study was to present a 5-year data on the outcomes after prenatal diagnosis of CHD. This is a retrospective descriptive study, conducted in the fetal medicine unit of an academic tertiary care referral centre in South India. The details of all cases with a prenatal diagnosis of fetal cardiac lesions from January 2012 through December 2016 were collected. All cases were systematically analyzed for type of lesion, associated malformations, chromosomal abnormalities, prognosis of the lesion, the decision taken by the couples and the information regarding post natal outcome, wherever available. Prenatally diagnosed fetal cardiac lesions were identified in 310 cases. In 220 (76.1%) cases, the couple opted for termination of pregnancy. In this group, 52% of them had an isolated cardiac defect with good prognosis. In the rest of the 69 cases who decided to continue, 7 cases had an IUD. In the 62 cases that culminated in a live birth, 46 cases opted for postnatal cardiac care. Corrective surgery was attempted in 18 neonates with 2 resulting in neonatal death. Prenatal diagnosis of isolated CHD provides an opportunity for an improved immediate neonatal outcome. A thorough evaluation for extracardiac and genetic abnormality will facilitate better utilization of health care resources by triaging patients with isolated CHD having good prognosis for targeted postnatal care. Also, antenatal pediatric cardiology counselling will enable the couple to make decisions regarding postnatal management options.

Joubert syndrome is a rare brainstem malformation characterized by hypoplastic vermis, thickened and elongated superior cerebellar peduncles, abnormally shaped 4th ventricle which may be associated with renal, ocular, hepatic orodigitofacial and cranial abnormalities and can be diagnosed on prenatal ultrasound and now is considered a part of Joubert syndrome and related syndromes (JSRD). Two prenatally detected cases of JSRD presented here expand the spectrum of sonological signs which should prompt a fetal medicine specialist to suspect JSRD.

In the ever expanding field of fetal medicine, the practitioners need to be equipped with the basic knowledge of the biostatistical concepts that are used in biomedical research. In this series, we explain these concepts that are relevant to day to day practice using simple clinician’s language, illustrated with examples from the fetal medicine literature. In this paper, we explain the concepts of population, sample, inferential statistics, and hypothesis testing.

Examination of the fetus with congenital anomalies is essential to identify the nature of the defects and determine if they constitute a part of a recognized abnormality of development and morphogenesis. A structured approach, including a comprehensive history and details of the anomalies present, assists in making a definitive diagnosis. Dysmorphic diagnosis in the fetus is a challenge as the complete phenotype may not be manifested, coupled with the possibility of subtle dysmorphism that is difficult to recognize. Correlation of the antenatal scan findings with those at autopsy, combined with the experienced eye of a clinical geneticist, is helpful in making a syndrome diagnosis. Specialized databases, reference textbooks, and previously published malformation syndromes are important aids for the geneticist. An accurate diagnosis is important to counsel families of the prognosis, available treatment options, and recurrence risks in future conceptions. New technologies for genetic testing are available to confirm a syndrome diagnosis and consequently, it is vital that appropriate fetal samples are stored in all cases. A team approach with expert input from a fetal medicine specialist, perinatal pathologist, geneticist, radiologist, and the genetics laboratory are important components of fetal dysmorphic syndrome identification.

The aim of this case series is to review our institution’s experience with fetal cardiac rhabdomyoma, to document the clinical outcome and the incidence of associated tuberous sclerosis (TS) in these babies after birth. Eight cases with fetal cardiac rhabdomyoma were studied over a period of three years and the perinatal outcome was obtained. Out of these eight cases diagnosed antenatally, seven pregnancies continued till term and one woman opted for termination of pregnancy. There was one early neonatal death and of the six living, five developed TS with cutaneous and neurological manifestations. This association is similar with other larger multicentric studies and meta-analysis. Fetal cardiac rhabdomyoma is strongly associated with the development of TS in postnatal life, and the couples should be counseled regarding this association.

The four issues of 2014 of the Journal of Fetal Medicine have just rolled out. It has been an exciting and tough year for us at the Editorial Board. We struggled through the process of having sufficient articles to publish. But at long last, we feel we have turned the corner, and now there is a steady stream of articles being submitted for publication. The Society of Fetal Medicine, on the other hand, is flourishing, and the membership is ever expanding. This is largely through the untiring and enthusiastic efforts of our Secretary Dr Ashok Khurana. A large number of cities in India (Mumbai, Kochi, Bangalore, Hyderabad, Jodhpur, Ludhiana, Patiala, Faridkot, Agra, Aurangabad, and Kochi have opened branches of the Society of Fetal Medicine, and have organized numerous regional continuing medical educational programs. This is testimony to the popularity of fetal medicine in the country, as well as, to the influence of our Society. Given that there are about 26 million births per year in India, fetal medicine will continue to flourish for years to come. What is amazing is that in spite of this huge number of births, the IVF clinics are flourishing at an even faster pace than fetal medicine and obstetrics. This emphasizes the strong desire of the couples to have a baby in our society. Fortunately, this desire is matched by the fervent wish of the couples to have a normal baby. Couples who have a pregnancy from conception through IVF, making the baby very precious, are willing to undergo tests to ensure normality of the baby. We would like to examine briefly the advances that have occurred in the field of fetal medicine in 2014. No doubt the single most advance, which has shaken the obstetricians and fetal medicine specialists, is the noninvasive prenatal testing of chromosomal disorders.The Journal had its share of articles on this topic. Cuckle emphasized the changing scene brought on by the NIPT technology [1]. Benn provided a good overview of the subject [2], while Verma [3] and Dash and colleagues [4] presented their experience with this technology in India. They reiterated that NIPT is still a screening test, and needs confirmation of a positive result with an invasive test. Secondly, it is not a good option if the nuchal translucency in the first trimester or nuchal fold thickness in the second trimester is increased, or there are ultrasound abnormalities, or there is history of miscarriages or abnormalities in past pregnancies. In all these instances, it would be good to have a full fetal karyotype, and also have fetal DNA for further studies once the five aneuploidies are excluded. Numerous papers on the use of NIPT in high-risk pregnancies have been published in 2014. Recently, papers have appeared demonstrating its utility in the low-risk population as well [5, 6]. Once the cost comes down, it would be routinely used in all pregnancies. Recently, there have been two excellent papers on the experience in detecting microdeletions [7, 8] Those using massively parallel sequencing technology claim they would be able to detect all deletions and duplications in the genome, and this advance in technology is awaitedwith baited breath. We also look forward, with excitement, to the application of this technology for the diagnosis of single-gene disorders.What is heartening to see is the establishment of this technology right in India by one company, to avoid the dispatch of samples abroad. More companies are likely to follow suit. Hopefully, thiswill also lead to lowering of the cost of the test, and the turn-around time for the reports. Lo et al. have recently described how the massively parallel sequencing technology has been used to determine the fetal genome, methylome, and transcriptome [9]. & Ishwar C. Verma jfm200@yahoo.co.in

This article summarizes the Professor Kamal Buckshee Oration given by the author at the annual conference of the Society of Fetal Medicine in Kochi, August 2014. The contributions of Professor Buckshee to fetal medicine are briefly described. The article traces the development of fetal medicine in India. It discusses the application of noninvasive prenatal testing (NIPT) in India. It briefly calculates the cost benefits of sexing of the fetus for X-linked disease. It also describes the results of screening 320 pregnant women using NIPT for aneuploidies. The benefits and limitations of NIPT are presented.

The world of fetal medicine is continuously evolving with frequent introduction of newer concepts and techniques. It is not possible for busy practitioners to keep themselves abreast with current developments and standards of practice on a day-to-day basis. Hence, conferences like the World Congress in Fetal Medicine organized by the Fetal Medicine Foundation annually are a very valuable educational exercise that should not be missed by true proponents of fetal medicine. In this article, some topics discussed at the Congress are covered

Ultrasound is now an established tool in the clinical management of pregnancy. Consequent to its major role in clinical decision-making and its remarkable operator dependence, it is necessary to have guidelines for minimum standards of performance of this modality in each area of obstetric ultrasound. The Society of Fetal Medicine guidelines have been developed for use by all the practitioners performing antenatal ultrasound scans. They are intended to provide the entire medical community with standards for the performance of quality ultrasound examinations. Practitioners are encouraged to go beyond these standards in relevant clinical situations. Each guideline in this document has undergone extensive discussion followed by a consensus. In a rapidly evolving technological and research environment, it is imperative to constantly re-evaluate and update these guidelines. Practitioners are advised to be aware of these updates and incorporate these into their daily practice.

This section of articles will concentrate on the technical aspects of imaging in fetal medicine. The “First Things First” series will deal with all aspects of the nuchal translucency (NT) scan, one at a time, in the current and forthcoming issues of the Journal. The present article aims at summarizing the ideal protocol for the measurement of the fetal NT at the 11–13+6 weeks scan based on the Fetal Medicine Foundation (FMF), UK guidelines and some practical tips for beginners.

It is with great pleasure that I welcome the launch of the Journal of Fetal Medicine. This will add to the range of publication options for researchers in the field and as a consequence it should, over time, establish a high reputation among potential readers. Moreover, the new journal is well positioned to fill a niche currently lacking. Despite their best intentions, many existing journals do not fully reflect the range of clinical practice across the continents. These journals are rightly predominantly concerned with reporting the latest scientific discoveries. Subsequently, pilot studies designed to test the practicality of clinical implementation of the new findings