Congenital anomalies constitute a significant proportion of infant morbidity and mortality. In about 50 to 70%, the cause of the birth defect remains unknown. However, with continued advancements in technology and research, as the genes involved in various processes instrumental in programming early embryonic development are identified, the molecular basis of an increasing number of birth defect syndromes is being defined.

Screening tests to identify fetuses at risk for aneuploidies should be offered to all pregnant women.

It should be remembered that screening tests can not diagnose a birth defect; they can only indicate an increased risk. An abnormal screening test result simply mean that additional testing is recommended.

Maternal serum biochemical markers in first trimester are free beta-hCG and PAPP-A. In second trimester the markers are AFP, UE3, hCG (Triple test) and inhibin added to these three markers forming the quadruple test. Level of cell free fetal DNA and fetal cells in maternal circulation are some of the molecular techniques for prenatal diagnosis of aneuploidies.

Maternal age is increasing in today's world of professional carrier of women. As we know with aging of ova chromosomal abnormalities in fetus are rising. Karyotype is the final diagnostic tool for the confirmation, but it is associated with risk of abortion with the invasive procedure required for it. Sonography markers can be a good tool along with biochemical markers to reduce this risk with better pick rate of chromosomal abnormalities during prenatal period.

Invent of 3D and 4D ultrasound has made a dramatic improvement in fetal imaging. Various viewing directions and rendering modes help better demonstration of pathologies suspected on 2D US. Multiplanar mode is the key of the 3D US imaging. Software like magicut and TUI help to understand the anatomy better. Volume ultrasound is an excellent tool for diagnosis of facial defects, spinal abnormalities, limb abnormalities, etc. 4D US shows fetal movements and expressions that are basis for the neurodevelopment of the fetus. STIC and VCAD are the tools that have made detection of fetal cardiac anomalies more precise.

This article discusses normal facial anatomy and the facial abnormalities, which can be diagnosed by 2D and 3D ultrasound. As the neonatal face is so visible one has to do a careful survey of the fetal face with all possible modalities to enhance the sonographer's expertise. Facial anomalies can be the tip of an iceberg with the diagnosis prompting evaluation for chromosomal abnormalities.

The central nervous system is probably the first organ system to be investigated in utero by diagnostic ultrasound. Anencephaly was the first congenital anomaly to be recognized by this technique before viability. Since then, the investigation of the fetal neural axis has steadily remained a central issue of antenatal sonography. Such an interest is explained by a number of reasons. CNS anomalies are frequent and often have a severe prognosis. In many cases they have a genetic background: consequently a large number of couples are at risk and warrant antenatal diagnosis. Modern high resolution ultrasound equipment yields a unique potential in evaluating normal and abnormal anatomy of the fetal neural axis beginning at very early stages of development.

Color Doppler is useful in evaluating fetal cardiac abnormalities and in assessing fetal hemodynamics in a hypoxic fetus. Color Doppler is extremely useful in evaluating extracardiac fetal abnormalities.

The prevalence of skeletal dysplasias is between 1 and 2000, and 1 and 4000 live births. While here are over 200 skeletal dysplasias approximately four disorders comprise 70% of the total: Achondroplasia, thanatophoric dysplasia, osteogenesis imperfecta, and achondrogenesis. The appropriate identification of lethal skeletal dysplasia is important not only for current pregnancy management, but also for genetic counseling concerning future pregnancies. Detection of skeletal dysplasias is usually possible by prenatal ultrasound, an accurate specific diagnosis is possible by radiologic, pathologic and molecular genetic examination. A total body ultrasound approach should include assessment of the following: Limbs, long bones and extremities, bone mineralization, any joint contractures, joint dislocations, fetal calvarium, spine and thorax.

Chromosomal anomalies are associated with considerable morbidity and mortality. The protocol for identifying these fetuses had for many years included a single clinical criterion of maternal age. Advances in biochemical screening combined with the excellent display of fetal dysmorphology afforded by technological advances in ultrasound equipment have resulted in a paradigm shift in the diagnosis of chromosomal abnormalities in the fetus, from the second trimester to the late first trimester. The accuracy of diagnosis as reported in multiple large series has pushed both screening and diagnostic testing for chromosomal disorders to the window now referred to as the 11 to 13 weeks + 6 days scan. Recent data have shown chorion villus sampling after 10 weeks to be as safe in experienced hands as amniocentesis and this has pushed the advantages of first trimester screening further. Ultrasound parameters for the detection of Down's syndrome in the first trimester include the nuchal translucency (NT) as the most well-defined and studied parameter, evaluation of the nasal bone (NB), frontomaxillary facial (FMF) angle, ductus venosus (DV) flow velocity waveform, tricuspid regurgitation (TR) and fetal heart-rate. Each parameter has well-defined criteria to be fulfilled for accurate quantification. Biochemical parameters that are currently in wide use include PAPP-A and free beta-hCG. Other parameters that the software accounts for are the gestational age assessed by the crown-rump length, maternal age, ethnicity, smoking, IVF and number of fetuses with chorionicity. Combining maternal age, biochemistry, NT and NB between 11 to 13 weeks + 6 days yields a detection rate of 96% with a false positive rate of 5%.

Intrauterine growth restriction remains befundling problem in obstetrics, dependent on multifactorial, diverse, intrinsic fetal conditions as well as many maternal and environmental factors. Ultrasonography with color doppler assesmenent remains the only tool for follow-up and diagnosis. Multidisciplinary apporach for assesment, mangement, prevention is imperative. Selective IUGR in monochorionic twins needs attention for optimum perinatal outcome. Future intensive research is desired to establish preventive, diagnostic and therapeutic strategies for IUGR, perhaps affecting the health of future generations.

By definition, antenatal MRI is the MR imaging during state of gestation without causing any significant risk to ongoing pregnancy and the fetus. MRI is in a unique advantageous position during antenatal period where ultrasound often provides limited information and CT is usually avoided due to radiation-related risks. The indications of antenatal MRI can be sub-divided into fetal indications, maternal obstetric indications and maternal non-obstetric indications. Antenatal MRI offers better anticipation of prognosis and facilitates parental counseling by accurate characterization of disease process and detection of concomitant anomalies. Ultrasound will however, remain the primary fetal imaging modality and MRI is not likely to replace its role in fetal imaging because of the proven utility, widespread availability and relatively low cost of ultrasound. But under specific clinical conditions, where Ultrasound does not provide adequate information, MRI is bliss and is a useful adjunct to ultrasound.

The specific clinical indications where MRI proved to be more useful include fetal anomaly screening in high risk/precious pregnancy, oligohydramnios / maternal obesity, fetal CNS assessment, characterization of fetal mass, assessment of fetal spine, delineation of fetal alimentary tract and other abdominal viscera, conjoint twin assessment, prior to antenatal intra-uterine fetal surgery or ex-utero intrapartum procedure. MRI indications which are presently at relatively experimental stage include non-invasive MR spectroscopy to detect antenatal fetal hypoxia and lung maturity status. Apart from this, the role of Diffusion-weighted MRI in antenatal imaging of placenta and fetal kidneys/lungs is also likely to emerge in near future. In addition, antenatal MRI also evaluates the maternal pelvis and provides vital information about fetal-pelvic disproportion.

By virtue of recent advances in MR technology and the need to practice evidence-based medicine, antenatal MRI is now rapidly moving from the realms of select academic medical centers into community practice in India. The article provides a brief update on antenatal MRI in routine clinical practice.

There are many markers to indicate the preparation of endometrium for successful implantation, and these manifest during the implantation window. Today TVS color Doppler can reliably show the increase in blood flows during the peri- and postovulatory phase and objectively assess these flows to predict endometrial receptivity.

Today many chromosomal defects can be suspected and diagnosed by the currently available biochemical testing and invasive tests analysis of chromosomes.

It is necessary for the clinician to have a through knowledge of chromosomal defects so a proper genetic counseling can be done. This review article discusses the genetic counseling for the various defects which can occur in the unborn fetus.

To derive population specific transverse cerebellar diameter/abdominal circumference ratio (TCD/AC ratio) for the assessment of normal fetal growth.

A one-year prospective observational study conducted at the KLE University's teaching hospital, Belgaum. The TCD/AC ratio was calculated for 434 obstetric patients, who met the inclusion criteria and the arithmetic mean and 1 standard deviation (SD) was calculated for the population studied.

Within the study population, the TCD/AC ratio assessed for normal fetal growth with gestational age ranging from 18 to 34 weeks was found to be a constant with a mean of 13.56 +/− 1.21(1 SD).

A normal standard value to assess normal fetal growth is required for a given set of population in order to be compared with those fetuses with intrauterine growth restriction (IUGR). The TCD/AC value in our study remained a constant between gestational ages ranging from 18 to 34 weeks with a mean of 13.56 +/− 1.21.

During the tragedy in Haiti, I accidentally had the opportunity to perform a couple of ultrasounds that really made a difference for the patients I saw. In the next article I will share my unforgettable story that made me aware of the sum importance to learn about the use of these devices in those scenarios. I hope that my story will help the experts in ultrasound and the companies that build them, to develop guidelines and workshops to get knowledge in this wonderful piece of technology that I believe should be called the stethoscope of the future.

To evaluate the accuracy and usefulness of predicting birth weight by measuring fetal thigh circumference by ultrasound and to compare with other conventional methods like Johnson's and Hadlock's.

In 100 pregnant women, ultrasonic measurements of mid-thigh circumference, along with BPD, FL and AC were done within 48 hours before delivery. Birth weights were estimated by Johnson's clinical method, Hadlock's and Vintzileos’ method. Statistical analysis of various ultrasound birth weight formulae in different weight categories was done and compared with each other, and also with clinical method.

In the present study, Vintzileos’ method was found to be better than Johnson's and Hadlock's in predicting birth weight in the categories < 2500 gm, and 2500 to 3000 gm. Between 3000 and 3500 gm, it was better than Johnson's method, while the results were comparable to Hadlock's method. In the category > 3500 gm, all three methods were comparable to each other, however it could be because of the small sample size involved (n = 6).

Incorporating fetal thigh circumference measurements along with biparietal diameter, femur length and abdominal circumference, significantly improved the accuracy of birth weight estimations by ultrasound. There was a good correlation between ultrasound measurements and actual postnatal measurements of thigh circumference (r² = 0.71).

Colorectal cancer (CRC) is the fourth most common cancer in men and the third most common cancer in women worldwide. The recent decline of CRC in the USA has been attributed to successful development of screening programs. In the last 20 years, endorectal ultrasound (ERUS) has become the primary method for locoregional staging of rectal cancer. Transvaginal sonography (TVS), with a high-frequency probe, obtains excellent image resolution of deep pelvic organs. TVS not only enables diagnosis and treatment in gynecology, infertility, and early pregnancy but also has the potential to detect other structural abnormalities within its reach, such as neoplasm of the rectosigmoid. Three-dimensional power Doppler ultrasound (3D PD) can depict the morphology of the vessel tree of tumors, and thus help to discriminate between benign and malignant neoplasm. In this case of a 42-year-old patient, an adnexal mass was diagnosed by TVS. Three-dimensional ultrasound gave topographic evidence of sigmoid colon tumor. Spectral Doppler and 3D PD diagnostic criteria of tumor vasculature, demonstrated in this neoplasm, were highly suspicious of malignancy. TVS diagnosis initiated endoscopic histological verification of adenocarcinoma of the sigma and timely surgical intervention.