Late amniocentesis: better late than never? A single referral centre experience.

INTRODUCTION: Several congenital abnormalities present late in pregnancy necessitating invasive testing to rule out genetic/infectious causes at late gestation. Not many studies have described the indications/safety of a late gestation amniocentesis. METHODS: All records of amniocentesis performed beyond 24 weeks were reviewed and evaluated for indications, positive yield and complications. RESULTS: About 187 women had an amniocentesis after 24 weeks for various indications with CNS abnormalities being the commonest. The total yield of positive findings was 14.60% (22/150; excluding 2 VOUS). CNS, multiple system involvement and skeletal system anormalities yielded maximum results. About 32.05% abnormalities could have potentially been detected at the time of a routine anomaly scan. Amongst all the deliveries, 2.1%  delivered spontaneously within a week of the procedure and about 5.4% delivered spontaneously within a month of the procedure. CONCLUSION: The study emphasises the need for additional accreditation (FMF, ISUOG) of sonographers to ensure the detection of anomalies at the routine 18-20 weeks scan. Inspite of a normal mid-trimester scan, central nervous system and gastrointestinal abnormalities presented more commonly after 24 weeks. The high positive yield in our study highlights the importance of testing even in late pregnancy beyond the legal age of termination. The test could clearly stratify the pregnancies with a poor outcome whilst reassuring the others. The procedure itself did not lead to a neonatal death due to prematurity.

Amyoplasia in monochorionic monozygotic pregnancy following interstitial laser.

Amyoplasia is a specific form of arthrogryposis, without any genetic cause. Six to ten percent of amyoplasia cases are one of the monozygotic twins, with the other twin being normal. Failure of maturation of anterior horn cells (AHCs) due to ischemic injury has been postulated as the primary pathological change, leading to arrest in the development of muscle fibers supplied by the affected AHCs with the typical limb positioning seen in amyoplasia. Twin-to-twin transfusion syndrome (TTTS) is an important risk factor for ischemic injury in monozygotic twin pregnancies. We present a case of monochorionic diamniotic twin pregnancy with features of TTTS at 12 weeks who underwent interstitial laser followed by the development of lower limb akinesia in the surviving fetus. Possible causes of amyoplasia are discussed.

Performance of Ductus Venosus Doppler (at 11-13 + 6 Weeks) in Predicting Adverse Fetal Outcomes in Indian Population: Going Beyond Aneuploidies: Going Beyond Aneuploidies.

OBJECTIVES: The objective of this study is to examine the performance of Ductus venosus (DV) Doppler done at the routine first trimester screening (11-13 + 6 weeks) in predicting the adverse fetal outcomes in Indian population. METHODS: This observational study was conducted between 2013 and 2019, on 4340 singleton pregnancies. Ductus Doppler were considered abnormal if DV pulsatility index values were >95th centile for that gestation or with a reversed "a" wave. Anatomical survey was done to rule out other abnormalities. Women were followed up till delivery and outcomes were divided into 4 groups: 1) aneuploidies; 2) cardiac defects; 3) non-cardiac structural abnormalities; and 4) miscarriages before 24 weeks or fetal deaths after 24 weeks. RESULTS: Prevalence of abnormal DV Doppler is 5.12% (205/4004). There were significantly higher number of fetal losses (4.4 versus 0.3%), aneuploidies (10.2 versus 1.7%), fetal cardiac defects (5.9 versus 1.4%), and non-cardiac structural defects (5.4 versus 1.4%) among the pregnancies with abnormal DV Doppler in comparison to those with normal flow (P < .001). Logistic regression analysis has shown that significant contribution to fetal chromosomal abnormalities and cardiac defects was associated with abnormal DV. Other factors which were found to have a significant association with adverse fetal outcome were increased nuchal translucency and increased body mass index (BMI). CONCLUSION: DV Doppler in first trimester can be used as a screening tool for cardiac defects and fetal deaths. Women with abnormal DV Dopplers should be offered fetal echocardiography at 18-22 weeks and third trimester growth scans with Dopplers.

Performance of Fetal Medicine Foundation algorithm for first trimester preeclampsia screening in an indigenous south Asian population.

BACKGROUND: To evaluate the performance of the Fetal Medicine Foundation (FMF) preterm preeclampsia (PE) screening algorithm in an indigenous South Asian population. METHODS: This was a prospective observational cohort study conducted in a tertiary maternal fetal unit in Delhi, India over 2 years. The study population comprised of 1863 women carrying a singleton pregnancy and of South Asian ethnicity who were screened for preterm pre-eclampsia (PE) between 11 and 14 weeks of gestation using Mean Arterial Pressure (MAP), transvaginal Mean Uterine Artery Pulsatility Index (UtAPI) and biochemical markers - Pregnancy Associated Plasma Protein-A (PAPP-A) and Placental Growth Factor.. Absolutemeasurements of noted biomarkers were converted to multiples of the expected gestational median (MoMS) which were then used to estimate risk for preterm PE < 37 weeks using Astraia software. Women with preterm PE risk of ≥1:100 was classified as as high risk. Detection rates (DR) at 10% false positive rate were calculated after adjusting for prophylactic aspirin use (either 75 or 150 mg). RESULTS: The incidence of PE and preterm PE were 3.17% (59/1863) and 1.34% (25/1863) respectively. PAPP-A and PlGF MoM distribution medians were 0.86 and 0.87 MoM and significantly deviated from 1 MoM. 431 (23.1%) women had a risk of ≥1:100, 75 (17.8%) of who received aspirin. Unadjusted DR using ≥1:100 threshold was 76%.Estimated DRs for a fixed 10% FPR ranged from 52.5 to 80% depending on biomarker combination after recentering MoMs and adjusting for aspirin use. CONCLUSION: The FMF algorithm whilst performing satisfactorily could still be further improved to ensure that biophysical and biochemical markers are correctly adjusted for indigenous South Asian women.

Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience.

Background & objectives: Down syndrome (DS) is one of the most common causes of developmental delay. In India, there is no protocol for prenatal screening of DS. Second-trimester biochemical screening is still being done by triple test. Quadruple test is with better sensitivity and specificity but is not advised routinely. So, the objective of this study was to evaluate the sensitivity and accuracy of the second-trimester screening (quadruple test with genetic sonogram) for trisomy 21 as compared to biochemical testing. Methods: This retrospective observational study was carried out in a Fetal Medicine Centre to analyze the odds of being affected with DS, given a positive risk (OAPR) upon screening in the quadruple test; triple test and quadruple test plus a genetic sonogram for high-risk singleton pregnancies (in view of advanced maternal age; an anomaly scan showing some abnormality, etc). Results: 3175 high-risk singleton pregnancies were screened for trisomy 21. 394 women underwent amniocentesis on the basis of triple test, quadruple test or quadruple plus genetic sonogram positive. 17 foetuses were diagnosed to have DS. The quadruple test was found to have a higher OAPR as compared to the triple test (1:30.1 as compared to 1: 40.2). Quadruple test plus the genetic sonogram was found to have the highest OAPR of 1:6. Interpretation & conclusions: Best screening for trisomy 21 is provided with quadruple test with genetic sonogram which can lower the rates of unnecessary amniocentesis in high-risk population.

Elective Fetal Reduction in Dichorionic Diamniotic Twin Pregnancies on Parental Request: A Single-Centre Experience.

OBJECTIVES: Our study aimed to examine a subset of electively reduced twins and compare their outcomes with those of expectantly managed twins, along with a cohort of singleton pregnancies. The secondary aim was to ascertain the procedure-related miscarriage risks. METHODS: A retrospective cohort analysis was performed at Apollo Centre for Fetal Medicine, New Delhi, comparing pregnancy outcomes in dichorionic diamniotic twin pregnancies which were reduced to singletons (group 1) with that of women with dichorionic twins managed expectantly (group 0) and women with a singleton pregnancy (group 2). Comparison of continuous and categorical variables was conducted using standard statistical tests. RESULTS: We analysed 35 twins which were reduced to singletons, 421 expectantly managed dichorionic twins and 1915 women with a singleton pregnancy. In the reduction group, the rate of procedure related pregnancy loss<24 weeks was lower, compared to the expectantly managed twins, although the difference was not statistically significant (5.71% [2/35] vs. 7.13% [30/421]; p = 1.000). The median gestational age at delivery was significantly higher in reduced twins compared to expectantly managed twin pregnancies (38.0 vs. 35.4 weeks respectively, p < 0.001) with a higher mean birth weight at delivery, both of which were comparable to that among the singleton pregnancies (38.3 weeks). The rates of preterm birth <32 weeks and <34 weeks in the expectantly managed twins were significantly higher at 19.8% (66/334) and 25.7% (86/334) compared to the reduced twins, all of whom delivered beyond 34 weeks. The rates of preterm births <32 weeks, <34 weeks, and the late preterm births in the reduced twins were comparable to those in the singleton cohort. CONCLUSIONS: The obstetric and perinatal outcomes after reduction of a dichorionic twin are better than an expectantly managed twin without an associated increase in pregnancy loss rates. Fetal reduction of dichorionic twin to a singleton appears to be a safe procedure in expert hands.

Isolated Fetal Ascites: Etiology and Prognosis - A 10-Year Experience from a Tertiary Referral Care Center in India.

INTRODUCTION: Isolated fetal ascites is an uncommon finding, and it may be difficult to elucidate the underlying pathology. This is more so when there are limited resources to investigate the patient adequately. This study was undertaken to see the etiology of isolated fetal ascites and analyze the outcomes. MATERIALS AND METHODS: Twenty-three cases of isolated fetal ascites were retrospectively analyzed from December 2007 to June 2018. All cases were investigated with detailed ultrasound with other investigations as required. Postnatal data included gestational age at birth, mode of delivery, weight, and postnatal outcome. RESULTS: The mean age at diagnosis was 26 gestational weeks. Structural abnormalities without any underlying chromosomal or genetic cause were identified in 10/23 (43.4%) cases with the most common structural abnormality related to the gastrointestinal tract where ultrasound proved to the most useful tool. The overall good prognosis was seen in 13/23 (56.5%) cases. CONCLUSION: Appropriate perinatal care, timely referral and delivery at tertiary care setup, and timely surgical intervention are measures which can improve the outcome and survival in fetuses diagnosed with isolated fetal ascites.

Diagnosis of sirenomelia in the first trimester.

Sirenomelia or "mermaid syndrome" is a rare congenital abnormality with an incidence of 1 in 60,000. We report a case diagnosed in the first trimester using two-dimensional, three-dimensional, and color Doppler ultrasound. With increasing emphasis on early diagnosis of fetal abnormalities, this case highlights the importance of looking for anomalies in the first trimester itself. In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision.

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.

OBJECTIVE: To establish a reference interval range for the fetal nasal bone length (NBL) in an Indian population. METHODS: A retrospective study of antenatal ultrasound records of fetuses at 16 to 25 weeks in singleton pregnancies. NBL, biparietal diameter (BPD) and femur length were noted in 6436 observations of singleton, euploid, nonmalformed pregnancies. RESULTS: The 50th centile for NBLs increased from 3.4 to 6.9 mm from 16th to 25th week of gestational age. The relation between nasal bone and gestational age, BPD and femur length were found and noted. The NBLs were found to be shorter when compared with other ethnicities. CONCLUSIONS: A reference range for fetal NBLs at 16 to 25 weeks in an Indian population and its relation with fetal biometry was established.

Prenatal Ventriculomegaly - Diagnosis, Prognostication and Management.

Fetal ventriculomegaly (VM) refers to the abnormal enlargement of one or more ventricles of the brain in-utero. The enlargement may or may not be related to ventricular obstruction and increased intracranial pressure; therefore, the term "hydrocephalus" is not used. VM is diagnosed usually in the mid-trimester when the atrial diameter (AD) of the lateral ventricle is more than 10 mm on one or both sides. A thorough workup is then required to identify the cause as the etiology is diverse. Fetal magnetic resonance imaging (MRI) may yield additional information. Serial ultrasound follow-up would be required to assess its progression with advancing gestation. The prognosis and long-term outcomes greatly depend upon the etiology, the severity at diagnosis, progression, and associations. This article reviews the definitions, diagnosis, and workup of fetal VM, discusses follow-up protocols and prognosis, and examines the role of fetal therapy, including fetoscopic surgery in its prenatal management.

First-Trimester Crown-Rump Length (CRL) and Nuchal Translucency (NT) Discordance in Monochorionic Twins: An Ominous Sign or a Benign Feature?

BACKGROUND: This study aimed to evaluate the usefulness of the first-trimester crown-rump length (CRL) and nuchal translucency (NT) discordance in monochorionic diamniotic twins (MCDA) for the prediction of complications-twin-twin transfusion syndrome (TTTS), selective fetal growth restriction (sFGR) or intrauterine fetal demise (IUFD). METHODS: Intertwin discordance in the CRL and NT was calculated as a percentage of the larger CRL and NT, respectively. The performance of inter twin discordance (CRL ≥ 10% and NT≥ 20%) for predicting complications was analysed using standard statistical screening test methods. RESULTS: Fifty-eight MCDA twin pregnancies were studied. Out of them, 19 (32%) pregnancies resulted in one of the complications studied (4 TTTS, 10 sFGR, 5 IUFD). CRL and NT discordance showed an increased probability of developing complications positive likelihood ratio (LR+) {95% confidence interval}: 2.05 {0.46-9.23} and 1.88 {1.03-3.45}, respectively. NT discordance showed a sensitivity of 57%. CONCLUSIONS: Although discordant first-trimester CRL and NT in monochorionic twins are poor screening tools for early prediction, if positive, they increase the risk of developing complications.