Anita Kaul

Nasal bone length: the long and short of it. Evaluation of the reference values for the fetal nasal bone length at 16 to 25 weeks of gestational age in an Indian population

To establish a reference interval range for the fetal nasal bone length (NBL) in an Indian population.

Anti-G antibody in alloimmunized pregnant women: Report of two cases

Anti-G has been reported as a possible cause of hemolytic disease of the fetus and newborn (HDFN), either independently or in association with anti-D, anti-C or both. The antibody mimics the pattern of anti-C and anti-D reactivity in the identification panel and is often present along with either or both of these antibodies. The differentiation of anti-D, -C and-G in routine pretransfusion workup is particularly essential in antenatal cases. We report two antenatal cases where anti-G was identified on advanced immunohematological workup, in addition to other alloantibodies.

Observational study comparing the performance of first-trimester screening protocols for detecting trisomy 21 in a North Indian population

To evaluate first‐trimester screening protocols for detecting trisomy 21 in an Indian population.

Conjoined Twins: A First-Trimester Diagnosis

A 35-year-old G2P1L1 conceived on ovulation induction came to us for combined first trimester screening at 12 weeks. She had a viability scan at 8 weeks which had reported a single viable intrauterine pregnancy. On ultrasonography, two distinct fetuses who were joined to each other by the anterior chest and abdominal wall were seen (Fig. 1). On color Doppler, a single fetal heart was identified.

First Trimester Diagnosis of Congenital Heart Disease

A 26-year-old primigravida came to our Fetal Medicine Center for first trimester aneuploidy screening at 13 weeks. Ultrasound was done using Voluson E8 (GE Healthcare , Milwaukee, WI, USA) with convex abdominal 4–8 MHz transducer and transvaginal 15–20 MHz transducer. On abdominal imaging, there was cardiomegaly with tricuspid regurgitation. On transvaginal scan, clear cardiac disproportion with a small left atrium and ventricle were seen (Fig. 1). On application of color Doppler, the flow across the mitral and aortic valves was negligible with hyperdynamic flow on the right side with tricuspid regurgitation (Figs. 2, 3). Foramen ovale was opening on the right side and the flow in the arch of aorta was reversed. Fig. 1 An axial image of the fetal chest on transvaginal sonography at 13 weeks showing a grossly-enlarged heart with a clear ventricular disproportion (Right[[[Left)

Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects

BACKGROUND AND OBJECTIVE: Women with high-risk pregnancies are offered prenatal diagnosis through amniocentesis for cytogenetic analysis of fetal cells. The aim of this study was to evaluate the effectiveness of the rapid fluorescence in situ hybridization (FISH) technique for detecting numerical aberrations of chromosomes 13, 21, 18, X and Y in high-risk pregnancies in an Indian scenario. MATERIALS AND METHODS: A total of 163 samples were received for a FISH and/or a full karyotype for prenatal diagnosis from high-risk pregnancies. In 116 samples both conventional culture techniques for getting karyotype through G-banding techniques were applied in conjunction to FISH test using the AneuVysion kit (Abbott Molecular, Inc.), following standard recommended protocol to compare the both the techniques in our setup. RESULTS: Out of 116 patients, we got 96 normal for the five major chromosome abnormality and seven patients were found to be abnormal (04 trisomy 21, 02 monosomy X, and 01 trisomy 13) and all the FISH results correlated with conventional cytogenetics. To summarize the results of total 163 patients for the major chromosomal abnormalities analyzed by both/or cytogenetics and FISH there were 140 (86%) normal, 9 (6%) cases were abnormal and another 4 (2.5%) cases were suspicious mosaic and 10 (6%) cases of culture failure. The diagnostic detection rate with FISH in 116 patients was 97.5%. There were no false-positive and false-negative autosomal or sex chromosomal results, within our established criteria for reporting FISH signals. CONCLUSION: Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India.

An Analysis of Outcomes in twin Pregnancies With Active Fetal Surveillance and Intervention: A Four Year Survey

Introduction The present study aims to highlight the prospects of improving fetal and perinatal outcomes in twin pregnancies with active fetal surveillance and effective fetal therapeutic interventions. Study Design 88 twin pregnancies booked for care at this centre were included in this study. The maternal demographic variables, course of pregnancy, fetal problems and specialised fetal therapeutic and diagnostic interventions were noted. The above parameters were also compared in dichorionic and monochorionic twin pregnancies and related to the perinatal outcome. Statistical analysis was done using the students t test and two-tailed chi sqaure tests with Yates continuity correction. A p value Results Mean maternal age was 30.34 ± 4.81 years (Range 19–48). 81% of the twins were DCDA and 19% were MCDA. The mean gestaional age at delivery was 34.4±3.5 weeks and this was not significantly different in MCDA and DCDA groups. Serious fetal problems warranting intervention at thetime of initial referral were significantly higher in MCDA twins although overall perinatal outcome in both groups were not different. Conclusion Active fetal surveillanve and therapeutic intervention improves the perinatal outcome to over 90% of at least one take home baby rate but with an increase in late prematurity.

RAPID FLUORESCENCE-IN-SITU-HYBRIDIZATION (FISH) ON UNCULTURED AMNIOCYTES FOR AVOIDING BIRTH DEFECTS DUE TO COMMON CHROMOSOMAL ABERRATIONS

Background Birth defects are structural or functional abnormalities present at birth that can cause physical or mental disability in new borns. Birth defects can be due to genetic problems caused by mutation in one or more genes, chromosome aneuploidy or environmental factors in women exposed during pregnancy. Objective The aim of the study was to evaluate the effectiveness of the Rapid-Fluorescence-in-Situ-Hybridization (Rapid-FISH) technique in detecting numerical chromosome aberrations of 13, 21, 18, X and Y in amniocyte nuclei from amniotic fluid for avoiding birth defects due to chromosome abnormalities performed on 138 high risk pregnancies. Methods The FISH was performed using AneuVysion kit (Vysis, Inc), according to a standard protocol. Results A total of one hundred thirty eight samples were received for full karyotype and FISH. The average age of mothers and their gestational ages were 33 years and 17.5 weeks respectively. Triple test screening was positive in 52.9% of the women followed by advanced maternal age and ultrasonographic abnormalities. Interphase FISH was performed on seventy eight specimens. All normal and abnormal results were confirmed by classical cytogenetic method (GTG banding and karyotyping). The overall detection rate for aneuploidies through FISH was 100%. Aneuploidy was identified in 5 out of 78 specimens (four cases of trisomy 21 and one case of Turner syndrome) taken for FISH. It was concluded that Rapid-FISH is a reliable and fast method for detecting numerical chromosomal aberrations through prenatal diagnosis and has been implemented as a routine diagnostic procedure in pregnancies with high risk of fetal aneuploidy for avoiding chromosomes 13, 18, 21, X, Y related birth defects.

Intra-Fetal Laser Ablation of Umbilical Vessels in Acardiac Twin with Successful Outcome

Objectives To interrupt blood supply to the acardiac twin in a case of TRAP sequence of monochorionic diamniotic multiple pregnancy to allow for continuation of the normal twin. Method Intra fetal laser coagulation of the perivesical artery of the acardiac twin using Nd: YAG laser. Result Healthy outcome of the co-twin (pump twin). Discussion Intra fetal laser coagulation is a safe method of treatment in TRAP sequence.