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 Pregnancy
Journal of Fetal Medicine - Tập 08 Số 04 - Trang 257-266 - 2021
AbstractZika 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 risk can
persist throughout pregnan...
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 Review
Journal of Fetal Medicine - - 2022
AbstractThe 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 aneurysm (DAA) is
a localized saccula...
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