Journal of Fetal Medicine
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Recurrence of Trisomic Pregnancies in Four Families: A Cytogenetic and Molecular Study
Journal of Fetal Medicine - Tập 6 - Trang 81-87 - 2019
The risk for recurrence of non disjunction trisomy 21 is conventionally considered to be less than 1%. Within a span of 3 years, we observed recurrence of non disjunction trisomies in four families. The objective of the present study was to determine low level mosaicism in either of the couple and to identify the parental origin of additional chromosome 21/18. The four couples who had recurrent tr......
Sonographic Diagnosis of Omphalocele in the Second Trimester of Pregnancy
Journal of Fetal Medicine - Tập 3 - Trang 45-48 - 2016
Omphaloceles or exomphalos are congenital midline abdominal wall defects at the base of the umbilical cord insertion with herniation of gut and/or liver or occasionally other content, out of the fetal abdomen. Prenatal detection has significantly increased with a wide use of ultrasound and alpha-fetoprotein screening. Omphaloceles detected early in pregnancy and containing only bowel, have increas......
Meckel-Gruber Syndrome in Twin Pregnancy: A Case Report
Journal of Fetal Medicine - Tập 9 - Trang 75-78 - 2022
Meckel-Gruber syndrome is a rare, OR-transitive and fatal disease. Prenatal diagnosis is important, especially in regions where consanguineous marriages are common. The classic triad of the disease is occipital meningoencephalocele, renal anomalies and postaxial polydactyly. The diagnosis is made by the presence of two of these three major features. Just over 200 cases have been reported in the wo......
Preserved Blood Spots Aid Antenatal Diagnosis of Citrullinemia Type-1
Journal of Fetal Medicine - Tập 8 - Trang 157-162 - 2021
Inborn errors of metabolism are an important cause of non-communicable under-five childhood mortality. Lack of confirmatory ‘genomic’ results in the deceased index case due to unavailability of post-mortem biological samples, can pose challenges in reproductive counseling of the parents in future pregnancies. Our case describes a couple seeking preconception genetic counseling after they lost thei......
Increased Positive Predictive Value for a Single-Nucleotide Polymorphism-Based Non-invasive Prenatal Test for the 22q11.2 Deletion
Journal of Fetal Medicine - Tập 5 - Trang 65-67 - 2018
Non-invasive prenatal testing (NIPT) has expanded its coverage beyond the common aneuploidies to include subchromosomal abnormalities such as the 22q11.2 deletion through the analysis of cell-free DNA. We previously reported a positive predictive value (PPV) of 18% and false-positive rate (FPR) of 0.38% for a single-nucleotide polymorphism (SNP)-based NIPT for fetal 22q11.2 deletion in a clinical ......
Assessment of Fetal Nasal Bone Length and Nasofrontal Angle in the Second Trimester in Normal Indian Pregnancies
Journal of Fetal Medicine - Tập 1 - Trang 137-141 - 2015
The authors aimed to establish the reference ranges of fetal nasal bone length (NBL) in the second trimester and evaluate the relationship between fetal NBL and biparietal diameter (BPD) at 17–22 weeks of gestation in the Indian population. The authors also determined the normal ranges of the fetal nasofrontal angle (NFA). Ultrasound examination was done in 486 singleton pregnancies at 17–22 weeks......
SFM Interim Practice Recommendations for Zika Virus Infection in PregnancyAbstract Zika virus (ZIKV) belongs to the family of flaviviruses and is transmitted by mosquitoes of the genus Aedes (A. aegypti and A. albopictus). ZIKV infection in pregnancy can have serious implications on the fetus and the neonate. Vertical transmission to the fetus can occur irrespective of symptomatic or asymptomatic infection in the pregnant woman and the ri... ...
Journal of Fetal Medicine - Tập 08 Số 04 - Trang 257-266 - 2021
Prenatal Diagnosis of Rhombencephalosynapsis
Journal of Fetal Medicine - Tập 4 - Trang 41-45 - 2016
Rhombencephalosynapsis (RS) is a rare and sporadic cerebellar malformation characterized by agenesis of cerebellar vermis, fusion of the cerebellar hemispheres, dentate nuclei, and superior cerebellar peduncles. In majority of cases, RS is associated with wide range of cerebral malformations (dysgenesis or agensis of corpus callosum (ACC) and anterior commissurae, fusion of the inferior colliculi,......
Prenatal Ultrasound Diagnosis of Diastematomyelia at 11–14 Week Scan
Journal of Fetal Medicine - Tập 4 - Trang 157-164 - 2017
Diastematomyelia is a rare form of congenital spinal anomaly in which the spinal cord is longitudinally split by a rigid or fibrous septum. Prenatal diagnosis of this condition has mainly been reported in the mid trimester. The authors report two cases of diastematomyelia detected at the 11–14 week scan with a brief review of literature. One case detected in the late first trimester was associated......
Prenatal Diagnosis of Ductus Arteriosus Aneurysm: A Case Report and Literature ReviewAbstract The ductus arteriosus (DA) is a vascular shunt between the main pulmonary artery and the proximal descending aorta, allowing the oxygenated blood from the placenta to bypass the fetal pulmonary circulation and supply oxygen-rich blood to the systemic circulation. Anomalies within the ductus arteriosus can compromise fetal circulation. Ductus arteriosus aneu... ...
Journal of Fetal Medicine - - 2022
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