Dyssegmental Dysplasia-Silverman Handmaker Type: a Rare Case Report
We present a rare case of a pregnancy  with a history of congenitally malformed fetuses. This is the 8th prenatally diagnosed case and the first in our department. The couple were both heterozygous carriers for a gene mutation causing DDSH. Invasive testing was performed for the ongoing pregnancy to check for the same gene mutation in the fetus. The fetus, now diagnosed as a carrier of the mutation was a boon to the distressed couple. Prenatal diagnosis is important in this type of lethal Dyssegmental Dysplasias to help make an informed decision and accordingly plan future pregnancy. Fetopathological examination and ...
Source: Journal of Fetal Medicine - November 20, 2021 Category: Perinatology & Neonatology Source Type: research
Bilateral Fetal Hydronephrosis presenting with Complete Penoscrotal Transposition at Birth: What to tell the Prospective Parents?
We report a case of a 38 Â weeks pregnancy with bilateral fetal hydronephrosis, distended bladder and anhydramnios who delivered a baby with complete PST. This case report highlights the possible prenatal diagnosis, intervention and counseling of prospective parents. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - November 17, 2021 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of 8p23 Deletion Syndrome by Single Nucleotide Polymorphism Microarray
We present the prenatal diagnosis of 8p23 deletion syndrome with sonographic features of fetal growth restriction, short long bones, increased right ventricular wall thickness and small ventricular dimensions without an  obvious structural fetal heart anomaly. The deletion size of the present case was one of the largest reported prenatally with a 10.8 MB deletion in the 8p23.3p23.1 region that did not include the critical GATA4 gene. The large deletion in our case included the SOX7, Tankyrase 1 (TNKS) and Microce phalin 1 (MCPH 1) genes. We assume that classical phenotypic features of micrognathia, low-set ears, flat and...
Source: Journal of Fetal Medicine - October 22, 2021 Category: Perinatology & Neonatology Source Type: research
Fetal Congenital Mesoblastic Nephroma: Case Report
We report a case of congenital mesoblastic nephroma which presented as a large unilateral solid renal mass detected at 33 weeks of gestation associated with oligohydramnios and small for gestational age (S GA) fetus. Ultrasound features were a large hypoechoic mass arising from the upper pole of the Left kidney measuring 52 × 43 × 32 mm. Inside the mass there were incomplete septae and a few cystic areas, likely hemorrhagic areas, with minimal peripheral vascularity. The mass was surround ed by a hyperechoic capsule. The left adrenal gland could be imaged separately. The baby was delivered by a lower segm...
Source: Journal of Fetal Medicine - October 16, 2021 Category: Perinatology & Neonatology Source Type: research
Fetal Oropharyngeal Teratoma: A Case Report
AbstractOropharyngeal teratomas are extremely rare fetal tumors  and originate from pluripotent stem cells. The tumor typically arises from the palato-pharyngeal region around the basishenoid. These tumors are heterogenous in nature. The reported case was diagnosed at 20 weeks gestation. Ultrasound revealed a heterogenous, lobulated facial mass protruded from the oral cavity without any hypervascularity or intracranial extension. There was no evidence of polyhydromnios. After counseling, the parents opted for termination of pregnancy. Histopathological examination from the exophytic mass was consistent with immature ...
Source: Journal of Fetal Medicine - October 8, 2021 Category: Perinatology & Neonatology Source Type: research
Discordant Crown Rump Length (CRL) in Twins: Is it a Matter of Concern? —The Indian Perspective
AbstractTo 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...
Source: Journal of Fetal Medicine - October 6, 2021 Category: Perinatology & Neonatology Source Type: research
Ultrasonic Diagnosis of Lissencephaly: Literature Review and A Case Report
This study combines a case of lissencephaly in o ur hospital and related literature review, to explore the clinical manifestations, epileptic seizures and ultrasonographic features of the disease, in order to improve the understanding of the disease. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - October 3, 2021 Category: Perinatology & Neonatology Source Type: research
Prenatal Diagnosis of a Fetus with Trisomy 18 and Inherited Reciprocal Translocation Between Chromosomes 7 and 18
AbstractIt is widely known that the increased prevalence of chromosomal abnormalities is mainly due to Robertsonian and reciprocal translocations as compared to duplication, deletion and inversion. In case of balanced translocations, there are no phenotypic characteristics observed in the carrier, but it leads to increased risk of producing unbalanced gametes. In this case report we present a prenatal case diagnosed at 16 Â weeks of gestation with trisomy for chromosome 18 along with inherited balanced reciprocal translocation between chromosome 7 and 18. Chromosome analysis of fetal amniotic fluid and maternal peripheral ...
Source: Journal of Fetal Medicine - September 30, 2021 Category: Perinatology & Neonatology Source Type: research
Recurrent Fetal Hydrops: Importance of Genetic Testing with Exome Sequencing —A Case Report
We report the case of a pregnant lady who had hydrops fetalis in three successive pregnancies and discuss the possible genetic causes and the systematic approach to evaluation of her pregnancy and her future reproductive options. Hydrops fetalis can occur due to a heterogeneous number of causes. Systematic evaluation helps in determining the cause which then determines the prognosis as well as recurrence in future pregnancies. Recurrent hydrops though rare, can occur because of single gene defects causing hematological, neurological, cardiac conditions, etc. Genetic testing and consideration of the role of exome sequencing...
Source: Journal of Fetal Medicine - September 28, 2021 Category: Perinatology & Neonatology Source Type: research
Role of Predictive Mortality Calculator in Antenatal Assessment of Congenital Diaphragmatic Hernia
We report on 2 cases of CDH, with fetal MRI performed at third trimester, focusing on the TFLV and observed-to-expected TFLV. We would like to highlight the importance of predictive mortality calculator which provides statistical data for healthcare providers in counselling families and aids in risk-stratification. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - September 28, 2021 Category: Perinatology & Neonatology Source Type: research
Appraisal of Short- and Long-Term Outcomes of Partial Versus Complete HELLP Syndromes: A Retrospective Cohort Study
AbstractTo compare short-term outcomes at index and subsequent pregnancies, as well as the long-term medical complications encountered later than  5 years after index pregnancy incomplete and partial HELLP syndromes. Pregnancies complicated by partial HELLP or complete HELLP during a period of 19 years were identified. Searches were limited to cases before 2012 to ensure an adequate follow-up period. Data on index or subsequent pregnancie s occurring at our center were extracted from the hospital database, while data pertaining to subsequent obstetric outcomes when deliveries occurred elsewhere together with current me...
Source: Journal of Fetal Medicine - September 17, 2021 Category: Perinatology & Neonatology Source Type: research
Discordant Crown Rump Length (CRL) in Twins: Is it a Matter of Concern? —The Indian Perspective
AbstractTo 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 i...
Source: Journal of Fetal Medicine - September 1, 2021 Category: Perinatology & Neonatology Source Type: research
Recurrent Fetal Hydrops: Importance of Genetic Testing with Exome Sequencing —A Case Report
We report the case of a pregnant lady who had hydrops fetalis in three successive pregnancies and discuss the possible genetic causes and the systematic approach to evaluation of her pregnancy and her future reproductive options. Hydrops fetalis can occur due to a heterogeneous number of causes. Systematic evaluation helps in determining the cause which then determines the prognosis as well as recurrence in future pregnancies. Recurrent hydrops though rare, can occur because of single gene defects causing hematological, neurological, cardiac conditions, etc. Genetic testing and consideration of the role of exome sequencing...
Source: Journal of Fetal Medicine - September 1, 2021 Category: Perinatology & Neonatology Source Type: research
Congenital Intracranial Teratoma —An Intractable Enigma: A Case Report and Review of Literature
We present a fetus incidentally diagnosed with intracranial teratoma by US and MRI at 36 weeks of gestation. Elective cesarean was performed for anticipated labor dystocia. A female baby with head circumference?> ?99th centile was delivered. Due to the invasive growth potential of the tumor, the baby succumbed at 4 months of palliative care. Further research is required for devising new treatment modalities to tackle this intractable condition. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - September 1, 2021 Category: Perinatology & Neonatology Source Type: research
Congenital Intracranial Teratoma —An Intractable Enigma: A Case Report and Review of Literature
We present a fetus incidentally diagnosed with intracranial teratoma by US and MRI at 36 weeks of gestation. Elective cesarean was performed for anticipated labor dystocia. A female baby with head circumference >  99th centile was delivered. Due to the invasive growth potential of the tumor, the baby succumbed at 4 months of palliative care. Further research is required for devising new treatment modalities to tackle this intractable condition. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - August 31, 2021 Category: Perinatology & Neonatology Source Type: research
