Journal of Fetal Medicine

The aim of this study was to assess the role of magnetic resonance imaging (MRI) in the diagnosis of fetal anomalies and its correlation with antenatal Ultrasound (US) and histopathology. The study was conducted in the Department of Radiodiagnosis, Basaveshwar Teaching and General Hospital attached to Mahadevappa Rampure Medical College, Kalaburagi. It was conducted over 6 months and included pregnant women with suspected fetal anomalies on US. MR images were read independently by two radiologists and findings were confirmed with histopathology and post natal follow up. 15 patients underwent MRI for different indications all of who were referred after US. In 8/15 cases (53.34%), the US findings and MRI findings were concordant. MRI imaging provided additional information in 7/15 cases (46.66%). With advances in MRI technology and cumulative experience, MRI can be used as a valuable complementary tool to ultrasound in detecting and better evaluating fetal anomalies. The major role of fetal MRI is confirmation of abnormal sonological findings, evaluation of sonological occult fetal CNS pathologies and reassurance in equivocal US findings.

Preterm premature rupture of membranes (PPROM) occurs in up to 3% of all pregnancies. Only few comparative studies have investigated potential risks and benefits between different tocolytic substances in women with PPROM. The aim of this study was to compare the neonatal short term outcome after tocolysis with Atosiban or Hexoprenaline in women with PPROM. This is a retrospective observational cohort study of women with PPROM between 24 and 32 weeks of gestation comparing neonatal and maternal outcome after tocolysis with atosiban or hexoprenaline. Outcome parameters were short term neonatal outcome, maternal tocolytic efficacy, effectiveness and tolerability and neonatal neurodevelopmental long-term outcome. Continuous variables were compared using t-Test or Mann–Whitney U test, as appropriate. For categorical variables Chi-square after Pearson and Fisher exact-test were used to compare the two groups. 93 women were included into this study with 42 women receiving hexoprenaline and 51 women receiving atosiban as primary tocolytic treatment. Mean gestational age was 29 weeks in both groups at the time PPROM. No differences were found for any short term neonatal outcome parameters, tocolytic efficacy, effectiveness and tolerability and neonatal neurodevelopmental long-term outcome. Both hexoprenaline and atosiban do not affect the short and long term neonatal outcome in women with PPROM for the time of lung maturation.

Isolated prenatally diagnosed large colonic dilatation in late third trimester raised suspicion of colonic obstruction. On further investigating, after the baby failed to pass meconium after 24 h, with radiograph and barium enema confirmed the diagnosis of Hirschsprung disease. Even though the sensitivity and predictability of antenatal ultrasound is limited, prenatally diagnosed colonic dilatation should be investigated further to confirmation of any underlying colonic obstruction and for timely intervention to decompress the dilated loops and to avoid any life threatening complications.

Multifetal pregnancy increases maternal, fetal and neonatal complications, most important being preterm delivery and complications of prematurity. Fetal reduction is a procedure for reducing the number of fetuses to a more manageable number. Reduction of triplet or higher order pregnancy is acceptable and the ending number is usually two. Fetal reduction reduces the risk of preterm delivery. Intracardiac/intrathoracic KCl is used for fetal reduction in multichorionic pregnancy. This is not a viable option in monochorionic pregnancy, where vaso-occlusive methods are used.

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 world literature. The purpose of presenting our case is that all findings of the disease were detected in both fetuses in a twin pregnancy for the first time, which has not been reported in literature.

Partial anomalous pulmonary venous drainage is often missed antenatally unless a complex congenital heart defect is associated. Likewise, isolated fetal coarctation of aorta has only a 60–70% chance to be diagnosed in the second trimester. The combination of these two conditions (PAPVC and COA), in the absence of situs abnormality or syndromic association is rare and not much reported in the literature. We are reporting a fetal heart which presented with apparent hypoplasia of the left ventricle and ascending aorta, as well as significant dilatation of the right atrium, right ventricle and pulmonary artery at 22 weeks of gestation. To begin with, we strongly suspected a left sided obstructive lesion until we noticed a 4th channel in the three vessel view (3VV) and dilated innominate vein in the absence of a dilated coronary sinus in the 4 chamber view. This led to a diagnosis of supracardiac PAPVC in combination with an arch anomaly. The pregnancy was continued up to 37–38 weeks when she underwent C-section for an obstetric indication. The baby underwent surgical intervention postnatally.

To evaluate the antenatal detection rate (ADR) of congenital heart defects (CHDs) in the northern part of India and also to assess the factors affecting the same. This was a prospective study performed at a tertiary referral center for pediatric cardiac care in northern India and included 200 consecutive infants (including neonates). A detailed history was obtained from the parents based on a protocol which included antenatal, birth and postnatal details including age at CHD detection. Patients with postnatal diagnosis of atrial septal defects, patent ductus arteriosus, partial anomalous pulmonary venous return, coronary and vascular ring anomalies and coarctation of aorta were excluded. Median age of detection of CHD was 1 mo (range = 1 d–11 mo). Fetal echocardiography (FE) was done in 23 (11.5%) patients; CHD was detected in 21 of them, giving an overall antenatal detection rate (ADR) of CHD as 10.5%. Fifteen of them were referred to a pediatric cardiologist for FE while in 8 patients, FE was performed by sonologist or fetal medicine specialist. Median gestational age at referral to a regional pediatric cardiologist for FE was 24 wk (range = 18–36 wk). Most important factor affecting the ADR was total number of ultrasounds during pregnancy, with ADR being higher in those having four or more ultrasound examinations. Antenatal 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.

Klippel–Trenaunay–Weber syndrome (KTWS) is a rare congenital disease characterized by cutaneous hemangiomas, soft tissue, and bone hypertrophy. It may be associated with arteriovenous malformation involving deeper pelvic organs. We present a prenatally-diagnosed case of KTWS identified at 26 weeks. Antenatal ultrasound identified subcutaneous hemangioma with soft tissue hypertrophy with unilateral hypertrophy of the lower extremity with right renal hydronephrosis. During the rest antenatal period, KTWS did not deteriorate and was not complicated by acute enlargement and sequestration and Kasabach–Merritt syndrome.

To evaluate the prefrontal space (PFS) ratio of fetuses of African descent without Down syndrome and compare it to the PFS ratio previously established in a homogeneous Caucasian population to determine whether there is a difference in the ratio in these two groups. The PFS ratio was calculated retrospectively from stored 2D images of 100 African, African-American and African-Caribbean fetuses in the second and third trimester performed at the authors’ center. Other data including the maternal age, gestational age, and ethnicity were collected. An unpaired T test was used to compare the previously published Caucasian mean, 0.97 (SD 0.29) with the mean established for the black population 1.37 (SD 0.44). The difference between these two PFS ratios was found to be significant (p < 0.0001). This pilot study suggests a significant difference in the PFS in the non-Caucasian population. In order to use the PFS as a sonographic screening tool for Down syndrome, it will be important to determine normal values in different ethnic populations.