Incidence Of Congenital Anomalies Research Articles

Морфофункціональний стан щитоподібної залози в дітей з уродженим гіпотиреозом

Актуальність. Захворювання щитоподібної залози (ЩЗ) займають перше місце серед усієї ендокринної патології і залишаються однією з найбільш складних проблем. Мета: оцінити морфофункціональний стан ЩЗ в дітей із уродженим гіпотиреозом (УГ). Матеріали та методи. Робота заснована на даних обстеження 34 дітей з УГ: ультразвукове дослідження ЩЗ, визначення рівня тиреоїдних гормонів (тиреотропний гормон (ТТГ), вільний тироксин, тиреоглобулін). Статистичний аналіз проводився стандартними методами з використанням пакета програм StatSoft Statistica 6.0 для Microsoft Windows XP. Результати. У 67,6 % випадків діагноз був поставлений за скринінгом на УГ, у 32,4 % — поза скринінгом. У 22 пацієнтів тиреоїдна тканина не візуалізувалася в типовому місці, або сумарний обсяг її був значно менший від норми. У 12 пацієнтів ЩЗ перебувала в типовому місці, а обсяг її відповідав нормі або перевищував її верхню межу. У 55,6 % визначалися кісти (у 56 % — з дистопією ЩЗ, у 44 % випадків — з гіпоплазією ЩЗ). Усі вони розташовані паратрахеально: ліворуч — у 66,7 %, праворуч — у 13,3 %, у 20 % — з обох сторін. Встановлений виражений ступінь тиреоїдної недостатності у пацієнтів із вадами залози, однак при гіпоплазії ЩЗ рівень ТТГ перебував на більш низьких значеннях (р < 0,05) порівняно з дистопією. Обтяжена спадковість переважно за материнською лінією спостерігалася в 11,7 %, майже у третині випадків відзначався обтяжений акушерсько-гінекологічний анамнез, більше ніж у половини матерів були патологічні відхилення родової діяльності, та у 2,1 раза частіше, ніж у загальній популяції, траплялася переношена вагітність. Висновки. Частота вроджених аномалій ЩЗ у дітей із УГ становить 64,7 %, більше ніж у половині випадків визначаються кісти. Виражений ступінь тиреоїдної недостатності зареєстрований у випадках гіпоплазії ЩЗ.

Epidemiology of congenital abnormalities in Bahrain

This study was carried out in order to find out the incidence of congenital anomalies in Bahrain. Statistics of the Bahraini Ministry of Health for 11 years from 1980 to 1990 were studied. The overall incidence rate of congenital anomalies in Bahrain was found to be 2. 7% of live births. Each anomaly was studied separately and compared with the incidence in other countries, whenever possible. It was found that anomalies of the musculoskeletal system have the highest incidence [2. 28 per 1000] , followed by the genitourinary system [2. 13 per 1000] , while the incidence of chromosomal disorders was 0. 9 per 1000

Maternal and fetal safety of intravenous immunoglobulin in women with reproductive failure.

Intravenous immunoglobulin G (IVIG) is an emerging regimen for women with reproductive failures (RF) during- or pre-pregnancy who have aberrant cellular immune reactions. Studies investigating teratogenicity of IVIG have been limited. Herein, we evaluated the fetal teratogenicity of IVIG and IVIG-related obstetric complications. Women who used IVIG during pregnancy due to RF with cellular immune aberrances were enrolled from four medical centers in Korea. The pregnancy outcomes were collected. A total of 370 RF women who used IVIG during their pregnancy were enrolled. Most of the patients started the IVIG therapy before 12weeks of gestation and 229 women continued IVIG treatment beyond 12weeks of gestation. The mean age of the subjects was 34.8 years and the mean total dosage of IVIG was 125.3g. A total of 307 women had livebirths and six of them were twins. Of 301 singleton livebirths, obstetric complications were developed as follows: preterm births (12.0%), gestational diabetes (7.0%), preeclampsia (4.0%), placental abruption (1.3%), placenta previa (4.3%), and placenta accrete (1.7%). Total six cases (1.99%) had major fetal anomalies in livebirths. The incidence of birth defects is similar to those of the general population in Korea and the previous report in infertile women. No IVIG -related viral contamination was noted. IVIG use during pregnancy did not increase obstetric complications and fetal teratogenicity. This study can be an evidence of maternal and fetal safety of IVIG administration during pregnancy.

P–784 Neonatal follow-up of babies born derived from mono-pronuclear zygotes

Abstract Study question Are the neonatal outcomes normal of babies derived from the transfer of blastocysts derived from mono-pronuclear(1PN) zygotes? Summary answer There was no effect on growth or increase in congenital anomalies up to 18-months in babies of 1PN-derived births. What is known already 1PN zygotes are observed in ART, albeit at a low rate. We have previously reported that 80.7% of 1PN zygotes derived from IVF or ICSI had a biparental chromosome using Live Cell imaging techniques, and some of these developed to the blastocyst stage (Tokoro et al. ASRM 2013). Furthermore, we have reported that these blastocysts can result in a viable pregnancy and healthy live birth (Tsuji et al. ASRM2020). However, there is some uncertainty about the developmental mechanism of 1PN zygotes, and there is no clear consensus on their clinical utility. Study design, size, duration This was a retrospective study which included 55 cases where there was a live birth after single embryo transfer of a blastocyst derived from 1PN zygote. The incidence of birth defects, birth weight was recorded as well as a physical development survey of 25 children who responded to the 18-months follow-up survey. The time period was 72 months (January 2013 to December 2018). Participants/materials, setting, methods Patients seeking fertility treatment at an established private IVF clinic. We compared the birth weight, birth after18-months height and weight of children born to 1PN zygotes with data from a control, 2PN group. Statistical significance was determined using the t-test (level of P < 0.05). Main results and the role of chance The incidence of birth defects in 1PN embryo-derived infants was 1.8% (1/55). The average birth weight of boys in the 1PN group was 3105.6+/–360.3g, which was not significantly different from 3041.0+/–443.3 g in the 2PN group. In girls, the average birth weight was 3085.7+/–454.9 g in the 1PN group, which was not significantly different from the 2PN group (2938.9+/–311.5 g). The average height at 18-months, was 81.6+/–2.5 cm vs 80.5+/–3.4 cm for boys; 79.0+/–1.8 cm vs 79.0+/–3.4 cm for girls in the 1PN and 2PN groups, respectively. The average body weights of the 1PN and 2PN groups were 11.1+/–1.1 kg vs 10.7+/–1.1 kg for boys; 9.7+/–0.9 kg vs 10.1+/–1.0 kg for girls, respectively. There was no significant difference in average height and weight up-to the 18-months follow-up survey. Limitations, reasons for caution The incidence of 1PN derived births is low and the study was limited to cases of single blastocyst embryo transfer. Wider implications of the findings: The incidence of congenital anomalies in Japan was around 1.7 to 2%, and the incidence was similar in the 1PN. There was no difference in the birth weight and 18-months follow-up survey of the 1PN compared with the 2PN. We have demonstrated that there is clinical utility of 1PN embryo. Trial registration number Not applicable

P–755 Perinatal outcomes following Day–4 embryo transfer compared to Day–2, Day–3 and Day–5 embryo transfer: an analysis of 56,346 singleton live births

Abstract Study question Are perinatal outcomes of singleton live births following Day–4 embryo transfer (ET) different to Day–2, Day–3 and Day–5 ET? Summary answer Perinatal outcomes of singleton live births following Day–4 ET are similar with those following Day–2, Day–3 and Day–5 ET. What is known already The morula represents a critical stage in preimplantation embryo development, but the usage of morula transfer on Day–4 has received little attention. Recent work from our group suggested that live birth rates following Day–4 ET appear higher than cleavage-stage ET, but lower than blastocyst ET. Therefore, Day–4 appears an alternative day to perform ET, offering the benefits of extended culture for embryo selection, but with shorter in-vitro culture exposure, as well as improving flexibility and planning in the IVF Clinic. However, there are extremely limited data available on the perinatal outcomes after Day–4 ET compared to cleavage-stage and blastocyst ET. Study design, size, duration Retrospective cohort study using data from the anonymised dataset of the Human Fertilisation and Embryology Authority (HFEA) in the UK between 2000 and 2016. Data from singleton live births of women undergoing their first IVF/ICSI cycle were analysed to compare perinatal outcomes after fresh Day–2,3,4,5 embryo transfers. Participants/materials, setting, methods Births resulting from the first, fresh, autologous, stimulated, non-PGT cycles, with full data, were included. After exclusions, a total 56,346 singleton live births were included in the analysis (17,613 from Day–2 ET, 15,533 from Day–3 ET, 508 from Day–4, 22,692 from Day–5 ET). Binary/multinomial logistic regression analysis was performed to adjust for important cofounders. Adjusted odds ratios (aORs) and 95% confidence intervals (95%CI) were calculated. The level of significance was set at < 0.05. Main results and the role of chance The probabilities of birth at full-term (FT) and normal birthweight (NBW) after Day–4 transfer (FT 90.4%; NBW 84.6%) were similar to Day–2 (FT 89.7%, aOR 0.994, [0.734–1.344]; NBW 81.9%, aOR 0.881, [0.708–1.096]), Day–3 (FT 90.2%, aOR 1.026, [0.760–1.386]; NBW 82.4%, aOR 0.894, [0.719–1.111]) and Day–5 transfer (FT 90.4%, aOR 1.001, [0.743–1.350]; NBW 83.7%, aOR 0.920, [0.741–1.142]). The probabilities of preterm birth (PTB) and very preterm birth (VPTB) after Day–4 transfer (PTB 9.3%; VPTB 0.4%) were similar to Day–2 (PTB 9.5%; aOR=0.952; VPTB 0.8%; aOR=2.172), Day–3 (PTB 9.0%, aOR=0.920; VPTB 0.9%, aOR=2.174), and Day–5 transfer (PTB 8.8%; aOR=0.955; VPTB 0.8%, aOR=1.956). The probabilities of very-low birthweight (VLBW), low birthweight (LBW), high birthweight (HBW) and very-high birthweight (VHBW) after Day–4 transfer (VLBW 0.9%, LBW 7.9%, HBW 6.3%, VHBW 0.3%) were similar to Day–2 (VLBW 1.8%, aOR=1.827; LBW 8.0%, aOR=1.015; HBW 8.1%, aOR=1.174; VHBW 0.2%, aOR=0.590), Day–3 (VLBW 1.8%, aOR=1.788; LBW 7.4%, aOR=0.927; HBW 8.3%, aOR=1.256; VHBW 0.2%, aOR=0.503) and Day–5 transfer (VLBW 1.6%, aOR=1.782; LBW 6.9%, aOR=0.894; HBW 7.5%, aOR=1.215; VHBW 0.2%, aOR=0.796). The probability of having a female baby after Day–4 transfer (51.6%) was similar to Day–2 (49.2%, aOR 0.940), Day–3 (49.3%, aOR 0.931) and Day–5 transfer (48.3%, aOR 0.869). Limitations, reasons for caution The study is limited by its retrospective nature, the inability to adjust for additional confounders and the small number of singleton births after Day–4 ET. It is not known how Day–4 ET was decided. The incidence of congenital abnormalities was not analysed due to incomplete registration in the dataset. Wider implications of the findings: Perinatal outcomes of singleton live births following Day–4 ET are similar with those following Day–2, Day–3 and Day–5 ET, suggesting that morula transfer is equally safe as cleavage-stage and blastocyst transfer. Data on a larger number of live births from well-designed RCTs are required to confirm these findings. Trial registration number Not applicable

O-044 Chinese Society of Reproductive Medicine 2018 annual report on ART

Abstract text Objective To analysis the Chinese ART data in 2018 to provide evidence for utilization of various ART. Methods The data of ART of 263 Reproductive Centers in the mainland of China in 2018 were collected by CSRM ART Data Reporting System. A cross-sectional survey of the use of ART technology was performed. Results In 2018, the CSRM data reporting system reported 105 610 AID/AIH cycles, 323 938 oocyte retrieval cycles, 147 129 fresh embryo transfer cycles, 254 012 frozen-thawed embryo transfer (FET) cycles, and 204 688 newborn . The patient's age was mainly concentrated in the group <35 years old, accounting for 63.75%. The pregnancy rate and live birth rate of retrieval cycles were 52.49% and 42.23% respectively. The pregnancy rate and live birth rate of FET cycles were 48.71% and 37.68% respectively. Among ART complications, the incidence of moderate to severe OHSS was 1.42%, 0.03% postoperative bleeding, 0.01% postoperative pelvic infection, and 0.04% the other complications. The incidence of birth defects of IVF was 0.87%. Conclusions This study uses "CSRM data reporting system" data to describe and analyze the current status of ART, basically consistent with the comparison in 2016 and 2017 that most cycles with good outcomes. However, no clear conclusions have been drawn on the changes of PGD/PGS cycle, all-freeze cycle and comprehensive analysis should be conducted by combining with laboratory data. Trial registration number: Study funding: Funding source:

Pregnancy Wastage Due to Fetal Congenital Malformations

OBJECTIVES: To study the pattern of various congenital anomalies in rural Haryana.STUDY DESIGN: This was a retrospective study conducted over 1 and ½ years (from January 2015 to June 2016) in a tertiary care center in Haryana, India.RESULTS: Out of 11,178 births, 227 babies had gross congenital malformations 2.03%. In literature, the most common birth defect reported in western countries is cardiovascular anomalies while in India and eastern countries, it’s the neural tube defect. In our study also, neural tube defects were the most common congenital anomalies accounting for 64.31% of total anomalies. They were more common in unbooked patients (70%) and the rural population. So, the main cause appears to be a lack of awareness and illiteracy.CONCLUSION: There is a need for increased awareness and folic acid supplementation routinely in the periconceptional period to decrease the incidence of congenital anomalies.

Alteraciones congénitas en cachorros de la raza Pug por apareamiento consanguíneo: Reporte de caso

Crossbreeding between individuals with a high degree of kinship often generate deformities to the fetuses. Inbreeding provides the formation of recessive genes that cause acrosomal defects responsible for malformations that can bring risks to the newborn's life. The objective was to report the follow-up and attendance to a delivery of a female PUG breed whose crossing took place with her grandfather, generating inbreeding and causing two neonates who had congenital malformations. The animal arrived at Tolevet – the veterinary clinic –, located in Toledo - Paraná, in labor, presenting uterine contractions and swelling in the region of the uterus in the abdomen. On physical examination, vital parameters were normal. At birth, seven puppies were born who received the care of removing the placental pouch, clearing the airways and umbilical ligation. Two puppies had congenital deformity; one had concurrent cleft lip with cleft palate (palatoschisis), the second, already in a state of death, presented abnormal fluid accumulation in fully edematous fetal tissue, defined as fetal hydrops. This report demonstrates the importance of avoiding common ancestors consanguineous mating, in order to minimize the incidence of birth defects in neonates that are incompatible with life or that pose a risk to the animal's health and quality of life.

Review Article: Present Perspectives of Hyperthyroidism during Pregnancy

Around 80% of the hyperthyroidism cases of women of childbearing age are inflammatory due to Graves' disease. Production and manifestation of other than gestational and early-onset diabetes may be linked to the hormonal modifications in the maternal immune system during birth. Therefore, in addition to the hormonal influences, the pregnancy test will be affected by various anatomical modifications or alterations seen in the body during pregnancy. For the health of a woman and the start of her pregnancy, thyroid hormones are very significant. These hormones are critical in early development and play a vital role in continuing the fetus's growth since conception. Women with untreated or inadequately controlled hyperthyroidism are at risk of giving birth problems. Future diseases, particularly those with IUGRTH producing so many fetuses. The treatment of hyperthyroid pregnant people is so tricky, and medical staff involvement is needed to ensure that it's monitored and treated in various ways. Pregnant women are prescribed antithyroid medications, and it is the medication of preference for most pregnant women (ATDs). Although both of these medications are transmitted to the fetus by the mother's bloodstream, they are significantly efficient in the treatment of maternal hyperthyroidism. Still, they need caution throughout the second half of pregnancy because of the possibility of fetopathy. Except in the first trimesters from weeks 6 to 10 weeks, the most prevalent adverse effect is abnormalities in the fetal; even with that as a caveat, the incidence of birth defects is high during the first trimester with the help of ATDs. The treatment of hyperthyroidism during pregnancy goes into four issues that are currently of major importance to obstetricians: its aetiology, disease occurrence, proper detection, under treatment, complications, and actual or a missed diagnosis and intervention, and finally, the method of dealing with the problem.

Fertility Status Among Long-Term Childhood Acute Lymphoblastic Leukemia Survivors Enrolled between 1971 and 1998 in the EORTC Children Leukemia Group Trials 58741, 58831/2 and 58881

BackgroundThe survival of childhood acute lymphoblastic leukemia (ALL) has improved significantly over the last decades, with recently reported overall survival rates in Europe of up to 85% in children (<14 years) and 62% in adolescents (15-19 years) (Trama, Lancet Oncol 2016). The increased number of long-term survivors has made the management of side effects an increasingly important issue in pediatric oncology. In this context, the impact on fertility caused by widely employed ALL treatments such as alkylating agents, cranial radiotherapy, total body irradiation and orchiectomy has been an emerging concern over the last years. The aim of this study was to assess fertility among long-term childhood ALL survivors.MethodsBetween 2012 and 2017, a follow-up study was performed among childhood ALL (and acute lymphoblastic lymphoma) survivors enrolled between 1971 and 1998 in EORTC studies (58741, 58831/2, 58881) in France and Belgium. Patients <18 years (yrs) at diagnosis and ≥18 yrs at the time of the follow-up were eligible to fill out a questionnaire that included information about their fertility. The following fertility-related outcomes were evaluated: having menstrual cycles for females, intention to have children, having children, use of reproductive techniques to become pregnant and occurrence of negative pregnancy outcomes (miscarriage, medical abortion, birth defects), separately for males and females.ResultsOut of 1429 eligible patients, 502 (35%) filled out the questionnaire, 862 (60%) were lost to follow-up, and 65 (5%) refused to participate. Disease characteristics and relapse occurrence within one yr after diagnosis were comparable between these 3 groups.Among respondents (275 females, 227 males), approximately 14% were aged 10-17 yrs at diagnosis and almost 30% belonged to the NCI high risk group (Table 1). Approximately 12% received cranial radiotherapy and 6% of females and 8% of males underwent hematopoietic stem cell transplantation. Relapse occurred in 12% and 14% of females and males, respectively. The median time between the diagnosis and the socioeconomic evaluation was 20 yrs (range: 13-42). The median age at follow-up was 25 yrs (range: 18-53).All but 6 females had ever had menstrual cycles. At the time of the fertility evaluation, 93% out of females younger than 45 yrs of age (N=270) either had menstrual cycles, were pregnant, gave breast feeding or continuously used contraceptives. Among females who had tried to become pregnant, 89% had been pregnant, 75% had children and 12% used medical help to become pregnant. One fifth of the ever pregnant females had ever had a miscarriage. The incidences of other negative pregnancy outcomes (e.g. birth defect, medical abortion) were low.The average number of children females had was 0.36 (95% CI: 0.27-0.44). The expected number of children in a population with the same distribution of country, age, and yr of birth of the mothers based on national population registries was 0.55. However, as 52% of the females had a bachelor or master degree and only 3% had no secondary school diploma, this difference could possibly be explained by an overrepresentation of females with a high level of education in our sample.Among males who had tried to have children, 83% made their partner pregnant, 72% had children and 7% used medical help to make their partner pregnant. The incidence of negative pregnancy outcomes other than miscarriage was low.ConclusionsIn this first disease-specific European cohort study, we evaluated fertility among adult survivors of childhood ALL enrolled in EORTC trials, with a median time from the diagnosis of 20 yrs.Most survivors who tried to have children, succeeded (75% of females, 72% of males). However, the average number of children per female seemed to be lower than in the general population. The incidences of birth defects, and medical abortions were low, both among female survivors and the partners of the male survivors.Despite the large number of potentially eligible patients, we could evaluate only 35% of long-term survivors. We were unable to study the effect of specific treatment exposures due to the large variety of treatments that patients received, the association between some treatments (protocol dependent) and age at the fertility evaluation, and the need to stratify the analyses by sex. Improvements in the follow-up of childhood cancer survivors are needed for a better evaluation of the long-term outcomes. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

The Association between Hair Levels of Boron and Disease Incidence in the Population of a Boron Geochemical Province: A Cross-Sectional Study

Background: A stable natural and technogenic boron geochemical province characterized by high environmental levels of boron has formed in the Aktobe Region of West Kazakhstan. The main local source of boron is sludge collectors of the boric acid production of the now destroyed chemical plant, built without impervious screens in the former old channels of the Ilek River, as well as in the river floodplain on alluvial quaternary sand and gravel deposits with high permeability. The objective of the study was to map hair levels of boron in residents of the Aktobe Region and to establish their relationship with disease incidence of the adult population. Materials and methods: The study included 340 permanent residents of the Aktobe Region, Republic of Kazakhstan, aged 18–60. Hair boron levels were measured by inductively coupled plasma mass spectrometry using a Nexion 300D spectrometer (PerkinElmer Inc., USA) coupled with an ESI SC-2 DX4 sampler (Elemental Scientific Inc., USA). Mapping was performed using the QGIS cross-platform geographic information system (QGIS 3.18). Results: The map of the boron status of the study participants visually demonstrated the uneven distribution of hair boron concentrations in the inhabitants of the region. Hair levels of boron were significantly higher in men than in women (p = 0.000). We established a strong direct correlation between hair levels of boron and the incidence of congenital anomalies and chromosomal abnormalities (r = 0.886, p = 0.019), diseases of the genitourinary system (r = 0.829, p = 0.042), respiratory diseases (r = 0.943, p = 0.005), diseases of the digestive system (r = 0.878, p = 0.021), diseases of the blood, hematopoietic organs and the immune system (r = 0.880, p = 0.017). Conclusion: The mapping of hair levels of boron in the residents of the Aktobe Region of West Kazakhstan gave a visual demonstration of the uneven distribution of environmental pollution with boron in the study area. The revealed relationships between boron concentrations in hair tissue and disease incidence in the boric geochemical province confirm the assumption that the ecological features of the environment can affect the health of the population, which requires further in-depth research.

Varicella Infection During Pregnancy- Maternal and Fetal Outcome; Case Series and Analysis in a Tertiary Centre in South India!

Background: This is a retrospective study undertaken to analyse the maternal and fetal outcome of varicella infection during pregnancy. Methods: This is a retrospective observational study done in Kerala Institute of Medical Sciences, Trivandrum, a tertiary care hospital in South India. Sixty nine women infected with chickenpox during pregnancy from January 2009 to February 2018 (9 years) were taken for the study. Results: The incidence of chickenpox during pregnancy in our study was 33.7 in 10000 pregnancies. There were no spontaneous miscarriages. The incidence of congenital anomalies was 7.2% and when compared to the overall obstetric population of the nine year study period in which the incidence was 6.5 %, there was no statistical significance (p- 0.99). The incidence of preterm labour was 4.7% and when compared to the overall obstetric population in which the incidence was 15 %, there was a statistically significant less incidence (p- 0.035). The incidence of polyhydramnios was 4.7% and when compared to the overall obstetric population in which the incidence was 1%, there was a statistically significant increased incidence (p - 0.018). The incidence of fetal growth restriction was 13% and when compared to the overall obstetric population in which the incidence was 12.4%, there was no statistically significant difference (p- 0.963) Conclusions: The maternal and fetal complications with chickenpox infection during pregnancy were more when infected in the first trimester. Early treatment, screening and followup will reduce the maternal and fetal morbidity

Paternal safety of the use of mycophenolic acid in kidney transplant recipients. Results of the EMVARON study.

The use of mycophenolic acid (MPA) in women during pregnancy causes an increase in miscarriages and birth defects with a typical embryopathy profile. Although epidemiological data does not suggest a greater risk among the offspring of male kidney transplant recipients, the European Medicines Agency and The Spanish Agency of Medicines and Medical Devices introduced the recommendation of using contraceptive methods. We conducted a national retrospective study in 15 Spanish Kidney Transplant Centers to evaluate the frequency of miscarriages and birth defects between the offspring from male kidney transplants recipients. We included 151 males who had fathered 239 offspring, 225 under MPA and 14 without MPA. The results of our study showed an incidence of miscarriages in the MPA group of 9.8%, and of birth defects of 4%. We observed an incidence of miscarriages between the offspring fathered by kidney transplant males under MPA lower than the general population. The incidence of birth defects was similar to the incidence described in other studies and the fact that we did not find the typical embryopathy profile makes it difficult to associate them to the use of MPA. Because of that, we urge the European and Spanish Agencies to reconsider their recommendations for males.

Incidence of Congenital Fetal Malformation Abnormalities in Tribhuban University, Teaching Hospital, Kathmandu, Nepal: a Hospital Based Study

Background : Birth defects are defined as abnormalities of structure or function, which are present at birth. Major birth defects are abnormalities that lead to developmental or physical disabilities or require medical or surgical treatment and they're the leading cause of death in the first year of life. The objective of this study is to find the incidence of congenital abnormalities in this institution.&#x0D; Methods: This was a prospective study conducted in Institute of Medicine, Maharajgunj Medical Campus, Tribhuwan University Teaching Hospital from 14th April 2015 to 11th Feb ,2016 . All the delivered babies in this hospital during the study period were included. All the birth cases of gross congenital fetal malformation were identified and carefully studied and were classified according to the International Classification of diseases (ICD-10).&#x0D; Results: Total number of congenital fetal malformation abnormalities (CMF) delivered during this period was 94 (1.13%) in total 8300 birth /7868 live birth. CMF were categorized as, Musculoskeletal - 25.55%, CNS - 17.02%, Gastrointestinal -13.33%, Renal 14.25%, Cardiac -10.63%, Respiratory -10.6%, craniofacial - 9.57%, Genitouriary - 8.51%, and Miscellaneous - 9.57%.&#x0D; Conclusion: Birth abnormalities incompatible to life needs to be timely diagnosed and terminated, whereas as those compatible to life should be given a chance to be born and cared thereafter. All the mothers who have, had previous malformed babies must undergo preconceptional counseling, before planning next pregnancy in order to avoid recurrent mishap.&#x0D;

Ultrasonography in Early Diagnosis and Follow up of Amniotic Fluid Abnormalities For Assessment of the Fetal Growth and Fetal Well being

Background: The US (including Doppler & 4D) is a simple method for early detection of amniotic fluid abnormalities to evaluate the fetal wellbeing and congenital lethal and non lethal anomalies. Our results demonstrate that there are different etiologies causing amniotic fluid abnormalities. Aim of work: The ultrasonographic early diagnosis and follow up of amniotic fluid abnormalities for evaluation the fetal wellbeing, fetal growth and early warning signs of fetal distress to determine the suitable time for delivery. Patient and methods: This study was performed between November 2019 and July 2020 at Obied Hospital-KSA. The study was carried on 80 cases presented with amniotic fluid abnormalities. Results: Out of 3220 pregnant females attending the outpatient clinic of the Gynecology and Obstetrics Department in ObH, 80 (2.48%) females with amniotic fluid abnormalities were selected. The maternal age ranged from 19 to 40 years. The true gestational age ranged from 13 to 40 weeks. The results show that there were significant positive correlations between amniotic fluid abnormality and fetal congenital anomalies, fetal growth disturbance & fetal wellbeing. In our study, the incidence of congenital anomalies was 44 cases out of 80 (55%). Lethal anomalies was seen in 20 cases (45.45% of congenital anomalies), non lethal in 24 cases (54.54%). Our results demonstrate that there are different etiologies causing Amniotic fluid abnormalities. Conclusion: Despite 45% of idiopathic etiology, we concluded that congenital anomalies should be carefully searched on whenever amniotic fluid abnormalities were detected. Full anomaly scan and close antenatal follow up are recommended.

Prenatal Diagnosis of Birth Defects by Exome Sequencing

Prenatal screening and diagnosis are increasingly becoming a part of medical practice. Prenatal screening can reduce the incidence of birth defects which cause morbidity and mortality in newborns. With emerging technologies, now it is possible to diagnose the genetic basis of birth defects more accurately in the prenatal period for early management. Different approaches are available for detecting genetic defects at different levels like karyotyping, chromosomal microarrays and Sanger sequencing. However, many cases still remain undiagnosed. Next generation sequencing has revolutionized the field of genetics that can detect genetic defects at the level of a single base pair. It includes both whole exome sequencing (WES) and whole genome sequencing (WGS). WES has particularly accelerated the discovery of disease-causing variants in many monogenic anomalies postnatally. Research is being conducted on the use of whole exome sequencing in the prenatal diagnostics of genetic anomalies detected by ultrasound. It is a more efficient way of getting an insight into the molecular basis of birth defects compared with conventional genetic approaches. However, technical and ethical issues need to be addressed before introducing this technique into routine prenatal clinical practice. Fetal cell sampling is done by invasive medical procedures like amniocentesis or chorionic villus sampling. However, noninvasive strategy of collecting fetal DNA from maternal plasma is an exciting and emerging domain. It is evident that in the coming years, we shall be able to use these techniques in the routine clinical setting and to improve the diagnosis and management of birth disorders during prenatal period.

Incidence of congenital anomalies in newborns born to mothers with heart disease

Background: Heart disease is seen in 1% pregnancies. Prior studies have either looked at only the prevalence of congenital heart diseases (CHD) in newborns or the congenital anomalies (CA) in babies born to those with chronic medical disorders as a whole. There is only sparse literature looking specifically at their prevalence in mothers with heart disease.Methods: We aimed to study incidence of CAs in newborns born to mothers with heart disease and to study other relevant outcomes like prematurity, low birth weight and intrauterine growth retardation which have significant associations with CAs. The present study was a descriptive study consisting of retrospective and prospective data and consisted of pregnant women with heart disease from 2006 to 2010 and their newborns.Results: 55 pregnant women with their 55 newborns were selected. Among the 55 newborns, 15% babies had congenital anomalies including CHD, 13% had only CHDs. 21% babies with CHDs were born to CHD mothers and none of the mother baby diagnosis was completely concordant. No statistically significant outcome of CA in newborns born to mothers with heart disease was found. No statistically significant associations among low birth weight, prematurity and CAs was found.Conclusions: 15% had congenital anomalies including CHD. No statistically significant outcome of CA in newborns born to mothers with heart disease was found. Since the study population comprised of a small sample size, significant derivations could not be made. Further studies are required in this direction to see if associations are significant.

Exposure to Propylthiouracil in the First Trimester of Pregnancy and Birth Defects: A Study at a Single Institution.

ContextMedical treatment of Graves disease during the first trimester has been the subject of controversy ever since treatment with an antithyroid drug during the first trimester was reported to possibly be associated with an increased risk of birth defects in newborns.ObjectiveWe investigated whether the incidence of birth defects among newborns born to mothers with Graves disease (GD) treated with propylthiouracil (PTU) during the first trimester of pregnancy was higher than in a control group that was not exposed to any medication.MethodsWe reviewed the cases of 1913 women with GD who gave birth between January 1, 2015, and May 31, 2019. Detailed information concerning the outcome of pregnancy and the presence of birth defects was collected at the first visit after the delivery and again 1 year after delivery. We classified the mothers and infants into 3 groups according to the treatment the mother had received for GD in the first trimester of pregnancy: a group in which the mothers had been treated with PTU alone (PTU group), a group in which the mothers had not been treated with any medication (control group), and a group in which the mothers had received some other medical treatment, such as thiamazole, potassium iodide, or 2 or more drugs (other treatment group).ResultsThe incidence of malformed infant births was 5.5% (30/541 infants) in the PTU group and 5.7% (27/ 475 infants) in the control group. There were no specific birth defects in the PTU group, and there were no significant differences between PTU dosages or maternal thyroid function according to whether mothers had delivered a child with a birth defect.ConclusionThe results of our retrospective study showed that treatment with PTU during the first trimester of pregnancy did not increase the incidence of birth defects among newborns.

Impact of Intracytoplasmic Morphologically Selected Sperm Injection (IMSI) on Birth Defects: A Systematic Review and Meta-Analysis.

Objective:It is generally accepted that the incidence of birth defects in spontaneously conceived children ranges between 2.0-4.0%. However, several studies have shown that babies born after assisted reproductive technology (ART) procedures tend to present more congenital malformations than naturally conceived children, with 6.5% of the children born after intracytoplasmic sperm injection (ICSI) presenting birth defects. The use of high magnification sperm selection before ICSI was introduced in the early 2000s to allow the identification of spermatozoa with low risk of sperm DNA damage. Intracytoplasmic morphologically selected sperm injection (IMSI) is expected to change the incidence of congenital malformations, although data on the incidence of birth defects in children conceived after IMSI are still scarce.Methods:A systematic review based on searches performed in electronic databases (PubMed, EMBASE, Web of Science, SCOPUS, and Cochrane Central Register of Controlled Trials) including articles published by February 2021 was conducted to identify trials comparing the neonatal outcomes of ICSI and IMSI. The outcome measured was the rate of birth defects in children born after ICSI or IMSI. Three trials were included as targets for data extraction and meta-analysis.Results:Our meta-analysis included 3907 children conceived after IMSI (1280) or ICSI (2627). The incidence of birth defects was statistically different, with 2.5% (32/1280) in IMSI and 4.5% (119/2627) in ICSI (RR=0.59; 95% CI=0.40-0.87; p=0.007). The results demonstrated that IMSI decreased the incidence of structural defects compared to ICSI - 2.2% (18/830) vs. 3.8% (78/2049) - in a statistically significant manner (RR=0.58; 95%CI=0.35-0.96; p=0.04). No significant difference was observed in chromosomal abnormalities (Trisomy 13; 18; 21 and Triple X) between children conceived after IMSI (8/830) or ICSI (19/2049) (RR=1.07; 95%CI=0.47-2.43; p=0.87).Conclusions:IMSI seems to be an effective tool at reducing the incidence of structural defects compared to ICSI. However, IMSI does not change the incidence of chromosomal abnormalities.

Oocyte Cryopreservation - Current Scenario and Future Perspectives: A Narrative Review.

Oocyte cryopreservation is a boon for women undergoing assisted reproductive technology. With the evolution in the technique of cryopreservation over the last three decades, there has been an exponential rise in the number of oocyte cryopreservation cycles for diverse indications. Apart from cancer patients, it has also been promoted as a mode of fertility insurance to overcome the age-related decline in fertility as well as post-surgical decline following endometriosis surgery. The objective of the review is to evaluate its clinical applications, ideal age at freezing, optimal oocyte number, freezing method of choice, efficacy, safety and recent advances. In the last decade, vitrification has surpassed slow freezing for oocyte cryopreservation. Although closed system of vitrification provides the aseptic environment, open vitrification is commonly followed in practice. Early to mid-thirties is a reasonable age group for planned oocyte cryopreservation, although it might be recommended at a younger age, in patients with diminished ovarian reserve. The patients should be motivated to preserve around 14–20 mature oocytes for successful live birth. Various studies have shown comparable fertilisation and pregnancy rates between Intracytoplasmic sperm injection with fresh and frozen-thawed oocytes. The available evidence has shown no increase in the incidence of congenital abnormalities in babies born through vitrified oocytes. In the future, image analysis using artificial intelligence, and spindle visualisation using poloscope may further enhance the outcome of oocyte cryopreservation.