Fetal Klippel-Trenaunay-Weber Syndrome: Antenatal Diagnosis and Postnatal Management.

Context: Klippel-Trenaunay-Weber syndrome (KTWS) is a rare disease characterized by a triad of venous malformations, vascular skin nevus and asymmetric hypertrophy of bone and soft tissue. The spectrum of disease in utero varies from asymptomatic nevus flammeus to life threatening complications like Kasabach-Merritt phenomena. Aim: The aim of this study was to review our experience of antenatal diagnosis of KTWS and it's postnatal management. Settings and Design: This was a retrospective observational study of all pregnant women who were antenatally diagnosed with KTWS and postnatally confirmed at a tertiary care center in north India between 2012 and 2021. Subjects and Methods: The electronic medical records were reviewed and data were collected regarding demographic information, obstetric history, clinical presentation, sonographic findings, mode of delivery, fetal outcome, and follow-up. Results: During the study period, four fetuses were diagnosed with KTWS on sonography. Three women were multigravida whereas one was a primigravida. Two women opted for medical termination of pregnancy and one each had liveborn child and an intra-uterine fetal death. KTWS was confirmed in all cases. The liveborn child underwent treatment for the vascular malformation and is alive at 4 years of age. Conclusions: This study attempts to add onto the available literature regarding the spectrum of prenatal presentations of KTWS. It emphasizes the importance of prenatal diagnosis and follow-up of the fetus/neonate.

Amniotic Fluid Mesenchymal Stromal Cells Derived from Fetuses with Isolated Cardiac Defects Exhibit Decreased Proliferation and Cardiomyogenic Potential.

Amniotic fluid mesenchymal stromal cells (AF-MSCs) represent an autologous cell source to ameliorate congenital heart defects (CHDs) in children. The AF-MSCs, having cardiomyogenic potential and being of fetal origin, may reflect the physiological and pathological changes in the fetal heart during embryogenesis. Hence, the study of defects in the functional properties of these stem cells during fetal heart development will help obtain a better understanding of the cause of neonatal CHDs. Therefore, in the present study, we compared the proliferative and cardiomyogenic potential of AF-MSCs derived from ICHD fetuses (ICHD AF-MSCs) with AF-MSCs from structurally normal fetuses (normal AF-MSCs). Compared to normal AF-MSCs, the ICHD AF-MSCs showed comparable immunophenotypic MSC marker expression and adipogenic and chondrogenic differentiation potential, with decreased proliferation, higher senescence, increased expression of DNA-damaged genes, and osteogenic differentiation potential. Furthermore, the expression of cardiac progenitor markers (PDGFR-α, VEGFR-2, and SSEA-1), cardiac transcription factors (GATA-4, NKx 2-5, ISL-1, TBX-5, TBX-18, and MeF-2C), and cardiovascular markers (cTNT, CD31, and α-SMA) were significantly reduced in ICHD AF-MSCs. Overall, these results suggest that the AF-MSCs of ICHD fetuses have proliferation defects with significantly decreased cardiomyogenic differentiation potential. Thus, these defects in ICHD AF-MSCs highlight that the impaired heart development in ICHD fetuses may be due to defects in the stem cells associated with heart development during embryogenesis.

Folate Receptor Alpha is Decreased in Pregnancy Affected with Fetal Neural Tube Defect: A Case Control Study.

Background: Neural tube defect (NTD) is a multifactorial disorder. Decrease transfer of folate to the developing embryo is one of the etiologies. It could be due to decrease folate receptors resulting in NTD in fetus. Objective: To analyze serum folate receptor alpha (FOLR1) concentration in women having fetus with NTD and compare it with women having normal fetus during and after pregnancy. Material and Methods: This was a prospective case control study conducted in a tertiary care hospital. Pregnant women with detected isolated NTD in fetus were enrolled as cases and equal number of matched pregnant women without any fetal congenital malformation were recruited as controls. Serum FOLR1 levels were analyzed in cases and controls during pregnancy and 6 weeks after delivery. Results: Mean serum FOLR1 concentration during pregnancy was 70.5 pg/mL (range: 23.8-98.5 pg/mL) and 103.9 pg/mL (range: 70-110 pg/mL) in cases and controls, respectively. Serum level of FOLR1 was 448.9 pg/mL (range: 133.5-475) and 414.5 pg/mL (range: 269.7-412.5) in cases and controls at 6 weeks postpartum, respectively. There was statistically significant difference (P < 0.001) between cases and control during pregnancy but not in postpartum (P = 0.092). There was significant increase in level of FOLR1 in both cases and control at 6 weeks postpartum as compared to antenatal period. Conclusions: Maternal serum FOLR1 is significantly reduced in pregnancy with fetal NTD as compared to normal pregnancy. The level is significantly increased in postpartum period in both groups. FOLR1 level being similar in both groups in postpartum indicates that it is not influenced by the history of fetal NTD.

Serum Bile Acid Levels in Women With Intrahepatic Cholestasis of Pregnancy in India.

Introduction: Intrahepatic cholestasis of pregnancy (ICP) manifests as unexplained intense pruritus in the third trimester of pregnancy and is often diagnosed based on elevated serum bile acid measurement. There are no data from India on serum bile acid levels in pregnant women with ICP. Methods: Pregnant women with significant pruritus during the third trimester of gestation and with elevated serum alanine aminotransferase and/or aspartate aminotransferase (normal: <40 IU/L) were taken as having ICP. Serum BA levels were measured in them and in nonpregnant women and healthy pregnant women without itching. Results: Of the 3735 pregnant women screened, 105 (2.8%) had ICP (age 28 [26-32] years; gestational age 32 [30-36] weeks; primigravida 32.3%, and 95.3% normal fetal growth). Median (interquartile range) serum bile acid levels in nonpregnant women (n = 61; 28 [25-31] years) and pregnant women without ICP (n = 59; 28 [25-31] years) were similar (3.7 [1.6-5.1] µmol/L and 3.7 [2.2-5.8] µmol/L, respectively). By comparison, serum bile acid level in women with ICP (n = 105; 28 [26-32] years) was significantly higher (20.2 [12.7-39.5] µmol/L; P < 0.05 each), being above 10 µmol/L in 88 (83.8%). The optimum cut-off for the diagnosis of ICP in our population was ≥8.6 µmol/L, with sensitivity of 87.6%, specificity of 93.3% and area under the receiver-operator characteristics curve of 0.937 (95% CI: 0.904-0.970). Conclusion: Serum BA levels in healthy Indian nonpregnant and pregnant women are similar to those in other populations and can be used to diagnose ICP with an optimal cut-off being 8.6 µmol/L.

Triage of antenatal care through telehealth during COVID-19 pandemic in a tertiary care centre of North India.

Background: Telemedicine facilitates patient care in various fields including antenatal care. Its application and usefulness need objectification and can be a guide to using this service in the care of pregnant women. Material and Methods: This was a prospective observational study conducted from May 2020 to December 2020. Following the telemedicine practice guideline of the country, 3,360 teleconsultations were sought by 862 antenatal patients. The duration of each call, an indication of referral and pregnancy risk stratification were noted. Further management was classified into three categories depending upon the need for an immediate hospital visit, no hospital visit or scheduled visit after at least 48 h after the first contact. Results: The antenatal cases were referred for either maternal, foetal or both indications in 24.7, 54.8 and 20.5% of the cases, respectively. Women were classified as low risk (61.6%), high risk (35.7%) and severe risk (2.7%). In 1.4% of the patients, history and review of the records could not be done through telemedicine. The average time spent was 16.6 min for the first contact and 3.1 min for subsequent contacts. Further management was done with immediate visits in 385 (45.3%), scheduled hospital visits in 292 (34.3%) women and no tertiary care hospital visit in 173 (20.4%). Discussion: Women (20.4%) not called to the maternal-foetal medicine department of the institute were managed along with the treating obstetrician and no difference in pregnancy outcome was noted. Conclusion: Antenatal care can be provided following triage over teleconsultation and 1.4% of the women may not be able to use telehealth.

Prognostic Significance and Prevalence of IgG Subtypes in Rh Haemolytic Disease of Fetus and Newborn.

Many authors have reported poor prognostic value of anti-D antibody titer in the setting of Hemolytic Disease of Fetus and Newborn (HDFN). According to literature, HDFN cases with IgG1 and IgG3 have more severity compared to IgG2 and IgG4.Therefore, we planned this study to evaluate the prevalence and prognostic value of IgG subtypes in the setting of Rh HDFN. This was a retrospective study performed at a tertiary care center in north India from October 2015 to November 2017. Women with anti-D antibody were included in the study and categorized on the basis of presence of specific IgG subtype. "DAT IgG1/IgG3 ID" card (BIO-RAD) was used for determining the subclass of IgG. Various clinical, laboratory & interventional parameters were used to categorize fetal outcome in severe and non-severe cases. Perinatal outcome was then compared between women with different IgG subclass profile. Subclass distribution among 80 alloimmunized women was 26.2% for IgG1, 15% for IgG3, 46.2% for IgG1 + IgG3 and the rest had neither IgG1 nor IgG3. Severity of HDFN was significantly higher when IgG1 &/or IgG3 were present alone or in combination, compared to cases with absence of IgG1 or IgG3 (p value < 0.05). Risk of severe HDFN was significantly higher in the presence of IgG1 &/or IgG3 and the severity was highest when both IgG1 and IgG3 were present. We recommend that IgG subclass determination should be included in a multi-parameter protocol for more accurate prediction HDFN severity to ensure timely referral and intervention.

Maternal and Fetal Outcomes of Pregnancy in Patients with Immune Thrombocytopenia.

INTRODUCTION: Immune thrombocytopenia (ITP) complicates 1-2 cases/10,000 pregnancies in India. Management of these patients is a challenge as it is associated with potential risks of maternal bleeding episodes and neonatal alloimmune thrombocytopenia (NAITP). OBJECTIVE: To study the maternal and fetal/neonatal outcome of pregnancy in Indian patients with ITP and identify the risk factors for NAITP. MATERIALS AND METHODS: In this retrospective study, all ITP patients with pregnancy who were diagnosed and treated at our center over 8 years (August 2010- August 2018) were evaluated for their hematological, obstetrical, and fetal outcomes. RESULTS: Twenty-nine pregnancies in 27 ITP patients were studied. The mean interval between the diagnosis of ITP and each pregnancy was 29 ± 14.9 months. The mean baseline platelet count was 0.18 ± 0.05 X 109/L. Twenty-seven (93.1%) cases were treated with oral prednisolone. Twenty deliveries (69.0%) were vaginal and 9 (31.0%) deliveries were by cesarean section. There were no major bleeding episodes during pregnancy or delivery.The mean neonatal platelet count was 1.23 ± 0.58 × 109/L at birth. NAITP was seen in 3 (3.5%) neonates. No bleeds or intracranial hemorrhages were observed. Only maternal platelet count < 50 X 109/L at delivery showed a statistical correlation with NAITP (p = 0.022). There was no positive correlation between NAITP and the duration of maternal ITP, the timing of ITP onset, or type of treatment. CONCLUSION: Successful outcome of pregnancies in ITP patients is possible, and the risk of maternal bleeding and NAITP is low.

Maternal and fetal outcomes in pregnant females with rheumatic heart disease.

BACKGROUND: Cardiac diseases are seen in 1-3% of pregnancies. In developing countries rheumatic heart disease (RHD) contributes a major cause of cardiac disorders. OBJECTIVE: To study the maternal and fetal outcome in women with valvular heart disease or prosthetic heart valve replacement secondary to RHD in a tertiary care center. METHOD: The consecutive pregnant women with RHD attending our institute from May 2018 to August 2019 were included. A maternal adverse outcome was defined as cardiac death, new onset arrhythmia, heart failure, thromboembolic event, hospitalization for other cardiac reasons or cardiac intervention, aortic dissection, infective endocarditis and acute coronary syndrome. Fetal adverse outcome defined as fetal death, preterm birth, and low birth weight. RESULT: Total 80 patients were included in this study, native RHD in 60(75%) and 20(25%) had mechanical prosthetic valve replacement. Maternal adverse event occurred in 34(42.5%), comprising of death in 1(1.2%), new onset AF 2(2.5%), 20(25%) underwent balloon mitral valvotomy, 3(3.7%) underwent mitral valve replacement, heart failure hospitalization in 7(8.7%). 1(1.2%) patient developed mitral valve infective endocarditis. Preterm delivery occurred in 19(23.7%), 7(8.7%) abortions and 1(1.2%) intrauterine death. Fetuses with low birth weight were 43(53.7%). Pregnancy with live birth occurred in 57(95%) women with valvular heart disease but no prosthesis and 16(80%) women with prosthetic valve disease. CONCLUSION: Women with rheumatic heart disease carry a high risk both for mother and fetus. Early diagnosis, close follow-up during pregnancy, early recognition of deterioration in symptoms and timely cardiac intervention can lead to good maternal or fetal outcome.

Feto-maternal and renal outcomes of nephrotic syndrome in pregnancy.

Proteinuria can range from subnephrotic to nephrotic amounts during pregnancy, though nephrotic syndrome (NS) is rare (0.012%-0.025%). Without a renal biopsy, this distinction may be difficult at times. The objective of our study was assessing about renal and feto-maternal outcomes of these patients. This study was done in a tertiary-care hospital in north India from 2010 to 2019. We included all pregnant women with nephrotic-range proteinuria, with no signs or symptoms suggestive of pre-eclampsia. We studied their treatment modalities, renal, maternal, and fetal outcomes. Eighteen eligible pregnant women diagnosed with NS with no features suggestive of pre-eclampsia or associated comorbidities were included. The gestational age of presentation was 23.2 ± 1.36 weeks. The average proteinuria was 4.38 ± 0.76 g/day. The patients were managed conservatively without kidney biopsy. About 16.7% of pregnancies had worsening of hypertension and acute kidney injury which recovered after delivery. Anasarca was troublesome for four patients requiring fresh-frozen plasma infusion. All were managed conservatively; however, five patients were started on empirical immunosuppression, all five with steroids, while two required the addition of calcineurin inhibitors as well. All had live births, but 25.7% each had preterm and intrauterine growth restriction while one required neonatal intensive care unit admission. The degree of proteinuria had an impact on maternal and fetal outcomes, especially on risk to pre-eclampsia. NS during pregnancy needs evaluation and counseling. Majority of them can be managed conservatively yet specific therapies can safely be tried among symptomatic ones. Despite good outcomes, a sizeable risk to maternal and fetal complications can occur.

Acute cortical necrosis in pregnancy still an important cause for end-stage renal disease in developing countries.

Renal cortical necrosis (RCN) is a serious complication of acute kidney injury (AKI) and pregnancy is a clinical state closely associated with it with poor renal outcomes. The incidence is much higher in obstetrical AKI compared to other causes of RCN. Despite better medical care facilities available, this continues to be an important cause of morbidity and mortality in developing countries. This is a retrospective analysis among all pregnant females presenting with AKI from January 1999 to December 2014 at a tertiary care center in the northern part of India. We looked for the incidence of obstetrical-related RCN in our renal biopsies performed in the last 15 years and to evaluate precipitating factors responsible for RCN. RCN constituted 8.3% of pregnancy-related AKI cases in our institution. The overall incidence has been declining which was 9.09% from 1999 to 2008 to 7.8% from 2009 to 2014. The patient's median age was 29.3 ± 5.2 years. The average time to presentation from the day of delivery was 8.7 ±2.1 days. The mortality was observed in 11.7% of them with sepsis and multiorgan dysfunction present in all of them. The most common etiology for RCN was found to be septic abortion and puerperal sepsis accounting for - 15.3% each. Postpartum hemorrhage was a cause in 9.09% of patients. The most important cause of RCN was postpartum thrombotic microangiopathy which was observed in 48.7% of patients. Kidney biopsy was helpful in diagnosis in 31 patients while computed tomography scan abdomen alone helped in diagnosis in five patients. Patchy cortical necrosis in histology was seen in 35.4% of patients and morbidity in terms of prolonged hospitalization was seen in 22.7% while dialysis dependency in 61.5% of the study population. In conclusion, strategies need to be implemented in reducing the preventable causes for RCN which is not only catastrophic in terms of renal outcomes but also for social and psychological perspectives as well.

Congenital Chylothorax in a Neonate with Cornelia de Lange Syndrome: A Rare Complication Managed with a Novel Indigenously Prepared Milk Formulation.

Congenital chylothorax is a relatively uncommon condition seen in newborn period. Treatment comprises of adequate pleural fluid drainage, octreotide infusion, total parenteral nutrition followed by medium chain triglyceride (MCT) based low fat milk preparations. The authors present a case of Cornelia de Lange syndrome with a rare presentation of antenatally diagnosed chlyothorax presenting at birth with respiratory distress. The baby was managed with skimmed milk formulation fortified with coconut oil providing low fat and high proteins.

Dissecting intracranial aneurysm in pregnancy: A rare association.

We report a case of dissecting aneurysm of the right posterior cerebral artery presenting with sudden onset headache and altered behavior during labor. A 26-year-old P1001 with uncomplicated antenatal period, except history of headache off and on since 32 weeks of pregnancy, developed sudden onset headache and altered behavior during 3rd stage of labor. She had vaginal delivery and a live born male baby was delivered with good Apgar score. The CT was suggestive of subarachnoid hemorrhage and DSA was suggestive of dissecting aneurysm of the right P2 segment with hypoplasia of right P1 segment and A1 segment of posterior and anterior cerebral artery, respectively. The patient was managed conservatively. At 4-month follow-up, the patient was doing well. We discuss about the rare association of a dissecting aneurysm and pregnancy, especially dissection of the posterior cerebral artery.

Intracranial hemorrhage from giant aneurysm in pregnancy: A rare association.

We report a case of giant aneurysm causing subarachnoid hemorrhage in a pregnant female. A 25-year-old female presented with sudden onset of severe headache and vomiting with altered sensorium and right hemiplegia. On investigation, she had a giant supraclinoid segment internal carotid artery (ICA) aneurysm. She was planned for digital substraction angiography, but during the procedure she deteriorated neurologically and went into spontaneous labor. The baby was a male child with weight of 1.1 kg. She was taken up for surgery and aneurysm was clipped. We discuss the rare occurrence of intracranial hemorrhage in pregnancy due to a giant ICA aneurysm.

Early Detection of Fetal Malformation, a Long Distance Yet to Cover! Present Status and Potential of First Trimester Ultrasonography in Detection of Fetal Congenital Malformation in a Developing Country: Experience at a Tertiary Care Centre in India.

BACKGROUND: Early detection of malformation is tremendously improved with improvement in imaging technology. Yet in a developing country like India majority of pregnant women are not privileged to get timely diagnosis. AIMS AND OBJECTIVES: To assess the present status and potential of first trimester ultrasonography in detection of fetal congenital structural malformations. METHODOLOGY: This was a retrospective observational study conducted at Sanjay Gandhi Postgraduate Institute of Medical Sciences. All pregnant women had anomaly scan and women with fetal structural malformations were included. RESULTS: Out of 4080 pregnant women undergoing ultrasound, 312 (7.6%) had fetal structural malformation. Out of 139 patients who were diagnosed after 20 weeks, 47 (33.8%) had fetal structural anomalies which could have been diagnosed before 12 weeks and 92 (66.1%) had fetal malformations which could have been diagnosed between 12 and 20 weeks. CONCLUSION: The first trimester ultrasonography could have identified 50% of major structural defects compared to 1.6% in the present scenario. This focuses on the immense need of the hour to gear up for early diagnosis and timely intervention in the field of prenatal detection of congenital malformation.

Thyroid peroxidase antibody in hypothyroidism: it's effect on pregnancy.

OBJECTIVE: To find out the prevalence of thyroid peroxidase antibodies (TPO) in pregnant women with hypothyroidism and to analyze its effect on pregnancy outcome. METHODS: The prospective study was conducted on well-controlled hypothyroid pregnant patients attending the antenatal clinic at Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India from July 2009 to June 2011 and has delivered. The women were grouped into two groups depending on presence or absence of TPO antibody. Maternal complications during pregnancy and perinatal outcome were noted and compared between these two groups. RESULTS: During the study period, 2479 women attended the high-risk pregnancy clinic. Among which 196 women were found to be hypothyroidism making prevalence of hypothyroidism as 7.91%. A total of 140 were found to be well controlled (5.6%) and included for study. Amongst the women with hypothyroidism, 40% were TPO positive. Complications like threatened abortion, spontaneous abortion, preterm delivery, fetal malformations, intrauterine growth restriction, and adverse fetal outcomes like poor apgar scores and prolonged nursery admissions were more in patients with positive TPO antibodies. CONCLUSION: TPO positivity is considered as high risk for pregnancy complications and hence those patients should be monitored more carefully.

Rare association of fetal posterior urethral valve with ureteric stricture.

BACKGROUND: Amongst the various causes of obstructive uropathies, pelviureteric junction obstruction, bilateral ureterovesical junction obstruction and vesicoureteral reflux are common. The association of posterior urethral valve and ureteric stricture has not been reported so far. CASE: We report a rare case of fetal obstructive uropathy presenting as combination of ureteric stricture with posterior urethral valve and its consequences like cystic dysplastic kidneys and urinoma. CONCLUSION: Combination of urinary malformation may be due to basic primary pathology and its secondary consequence at a distant site.

Complete Pentalogy of Cantrell with craniorachischisis: a case report.

BACKGROUND: Pentalogy of Cantrell is a rare malformation syndrome consisting of a specific combination of ventral midline defects, uncommonly found to be associated with other anomalies. CASE: We report a case of complete Pentalogy of Cantrell with craniorachischisis diagnosed in-utero at 19 weeks of gestation through antenatal ultrasonography. Fetal autopsy following termination of the pregnancy confirmed the presence of the sonographically detected malformations and also revealed associated transposition of great vessels (TGV) in the fetus. CONCLUSION: Co-occurrence of such ventral and dorsal midline defects suggests the possibility that common genetic and environmental factors influence the early stages of development of the ventral as well as dorsal embryonic midline.

Hepatitis E virus infection causing isolated fetal ascites: a case report.

Maternal hepatitis infection, excepting hepatitis E, causing isolated fetal ascites with variable outcome has been reported previously. We present a case of maternal hepatitis E virus (HEV) infection causing isolated fetal ascites which resolved spontaneously during pregnancy and resulted in a term live-born baby with anti-HEV seropositivity. A 39-year-old primigravida woman was diagnosed with acute HEV infection at 15 weeks of gestation. Ultrasound at 19 weeks showed significant fetal ascites with abdominal calcifications. Fetal karyotype did not show any abnormality. Cord blood was positive for anti-HEV IgM and negative for other intrauterine infections. Ultrasound at 25 weeks showed partial resolution of fetal ascites with complete resolution at 30 weeks. She delivered a healthy baby at 38 completed weeks, with normal liver enzymes at birth and 1-month follow-up.