Current Strategy of Fetal Therapy II: Invasive Fetal Interventions
AbstractInvasive fetal intervention provides potential benefits to the fetus, but risks to the mother and the fetus are not negligible. Large congenital pulmonary airway malformation (CPAM) may cause fetal hydrops. Shunt placement in macrocystic type or steroids administration in microcystic type CPAM have been reported to reverse the hydrops in a small case series. In selected cases of fetal congenital diaphragmatic hernia (CDH), tracheal plugging may prevent egress of the lung fluid, promote lung proliferation, and maturation of pulmonary vasculature, which favor survival in isolated right-sided CDH fetuses or those with...
Source: Journal of Fetal Medicine - August 2, 2017 Category: Perinatology & Neonatology Source Type: research

Status of Antenatal Detection of Congenital Heart Defects in a Northern Indian Population and Factors Influencing it
ConclusionsAntenatal detection rate for CHD was very low. Referral for a focused fetal echocardiography during pregnancy is poor and those referred are done at very late stages of pregnancy. Measures that can help in improving the detection include following a strict protocol for cardiac screening, extending the screening to include the outflow tracts and early referral to fetal or pediatric cardiologists in case of minimal suspicion. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - August 1, 2017 Category: Perinatology & Neonatology Source Type: research

The First Trimester Combined Screening Test in the Indian Population: Insights from a Cohort of 27,647 Pregnancies
ConclusionsWith the current screening protocol, the screen positive rate and the odds of being affected given a positive result (OAPR) for a threshold of 1:250 are 1.8% and 1 in 25 respectively. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 29, 2017 Category: Perinatology & Neonatology Source Type: research

Antenatal Diagnosis of Congenital Diaphragmatic Hernia and Successful Outcome After Postnatal Surgery
AbstractCongenital diaphragmatic hernia (CDH) is a group of disorders where abdominal contents protrude into the chest. The prognosis depends on the contralateral lung volume. The authors evaluated a case of left sided diaphragmatic hernia that was diagnosed at 32  week, and confirmed by MRI. Sonography based Lung to Head circumference ratio (LHR) was calculated. The case was managed at a tertiary care centre where the newborn was immediately shifted to the pediatrician and pediatric surgeon and was operated. Antenatal sonography is the primary modality to diagnose CDH. LHR based on sonography is the key to predict pulm...
Source: Journal of Fetal Medicine - July 29, 2017 Category: Perinatology & Neonatology Source Type: research

Acardiac Twin: A Report of Two Cases
AbstractMultiple gestations, especially monochorionic twins are associated with unique complications such as twin to twin transfusion syndrome (TTTS)  and twin reversed arterial perfusion (TRAP) sequence due to preferential blood flow within the vascular communications between the two fetuses. TRAP sequence is a rare complication of monochorionic twins. The authors describe two cases of acardiac twins, one diagnosed at 17 weeks and the other at 24 weeks. While the first one was lost to follow-up, the second pregnancy was managed expectantly with close antepartum surveillance and had a term vaginal delivery of a healthy ba...
Source: Journal of Fetal Medicine - July 29, 2017 Category: Perinatology & Neonatology Source Type: research

Current Strategy of Fetal Therapy I: Principles of In-utero Treatment, Pharmacologic Intervention, Stem Cell Transplantation and Gene Therapy
AbstractFetal conditions with high morbidity are amenable for prenatal intervention. It is important that the selective and investigative nature of most procedures needs to be clarified with the family during counseling session. Fetal therapy is fostered by accurate prenatal diagnosis with advanced fetal imaging, and molecular genetics technology. The treatments can be categorized into medical treatment, stem cell transplantation and gene therapy, minimally invasive intervention, endoscopic surgery, and open hysterotomy approach. Scientific validation of their genuine benefits has been a subject of ongoing researches. Pren...
Source: Journal of Fetal Medicine - July 21, 2017 Category: Perinatology & Neonatology Source Type: research

Sensitivity of Nasal Bone as Aneuploidy Marker —First Trimester versus Second Trimester Assessment
ConclusionsRoutine inclusion of NB in first trimester risk assessment with conventional midsagittal view alone in all cases may lead to an increased number of false positives. Inclusion in the second trimester would still have the same detection rate but would eliminate technical difficulties of imaging NB in the first trimester. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - July 20, 2017 Category: Perinatology & Neonatology Source Type: research

Basic Biostatistical Concepts for the Fetal Physician —II: Population, Sample, and Hypothesis Testing
AbstractIn 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. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - May 15, 2017 Category: Perinatology & Neonatology Source Type: research

Current Concepts in Noninvasive Prenatal Screening (NIPS)
AbstractNoninvasive prenatal screening (NIPS) represents a significant advance in prenatal screening for trisomy 21 and other conditions. Like any new and rapidly developing technology, it is important for healthcare providers to keep up to date with current and developing issues to help ensure that users of tests such as NIPS are well informed. This review intends to outline and explain some of the main current issues with regards to NIPS and to look ahead to the future, in order to increase understanding and inform debate. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - April 25, 2017 Category: Perinatology & Neonatology Source Type: research

Chromosomal Preimplantation Genetic Diagnosis: 25  Years and Counting
AbstractPreimplantation genetic diagnosis (PGD), first successfully carried out in humans in the early 1990s, initially involved the PCR sexing of embryos by Y- (and later also X-) chromosome specific detection. Because of the problems relating to misdiagnosis and contamination of this technology however the PCR based test was superseded by a FISH-based approach involving X and Y specific probes. Sexing by FISH heralded translocation screening, which was shortly followed by preimplantation genetic screening (PGS) for Aneuploidy. Aneuploidy is widely accepted to be the leading cause of implantation failure in assisted repro...
Source: Journal of Fetal Medicine - April 22, 2017 Category: Perinatology & Neonatology Source Type: research

Prognosis in Congenital Diaphragmatic Hernia Diagnosed During Fetal Life
AbstractCongenital diaphragmatic hernia (CDH) is a malformation that continues to cause significant morbidity and mortality and can be difficult to clinically manage. Determination of prognosis can greatly add to the decision-making process in prenatally recognized CDH, predominantly by the recognition of specific ultrasound findings. Ultrasound findings that are important include hernia type, laterality, lung size, position of the fetal liver and stomach, and the presence or absence of other anomalies. In general, prognosis is best in cases where CDH is an isolated anomaly, the liver and stomach remain within the abdomina...
Source: Journal of Fetal Medicine - April 4, 2017 Category: Perinatology & Neonatology Source Type: research

Counseling for Fetal Central Nervous System Defects
AbstractFetal central nervous system defects are one of the commonest antenatally detected abnormalities. They consist of a wide array of lesions with heterogeneous etiologies and outcomes. Counselling of the family in such cases forms an integral part of management. However, this can be challenging due to diagnostic and prognostic uncertainties for many defects. Some lesions like anencephaly, holoprosencephaly, and lissencephaly, have an invariably poor outcome, and decision regarding pregnancy termination is straightforward. On the other hand, lesions like mild ventriculomegaly, isolated corpus callosum agenesis and post...
Source: Journal of Fetal Medicine - March 28, 2017 Category: Perinatology & Neonatology Source Type: research

Journal Watch
(Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 22, 2017 Category: Perinatology & Neonatology Source Type: research

Chorionic Villus Sampling
AbstractChorionic villus sampling (CVS) is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities. It usually takes place at 10 –12 weeks’ gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. CVS was performed for the first time by Italian biologist Giuseppe Simoni. It requires expertise and is safe in the hands of experienced surgeons with a very low fetal loss rate. (Source: Journal of Fetal Medicine)
Source: Journal of Fetal Medicine - March 19, 2017 Category: Perinatology & Neonatology Source Type: research

Structural Analysis of the Umbilical Cord and Its Vessels in Intrauterine Growth Restriction and Pre-eclampsia
AbstractBoth intrauterine growth restriction (IUGR) and pre-eclampsia (PE) are accompanied by alterations in the vascular structures of the umbilical cord (UC). However, it is unclear if the vasculature is significantly different when both conditions co-exist. Digitized sections of 77 UC from four groups of women were analyzed morphometrically. The groups included women with PE (group I), IUGR and PE (group II), IUGR (group III) and women with uncomplicated pregnancy as controls (group IV). The effect of PE, IUGR and their combination on UC parameters were examined using two-way ANOVA and the correlation of birth weight an...
Source: Journal of Fetal Medicine - March 7, 2017 Category: Perinatology & Neonatology Source Type: research