Incidence Of Congenital Anomalies Research Articles

Patterns of occurrence and management abilities of birth defects: A study from a highly urbanized coastal district of India

BackgroundThe present study was aimed to find out the patterns of occurrence and management abilities of Birth Defects (BDs) in Visakhapatnam, one of the north coastal district of Andhra Pradesh, India during a span of five years. MethodsA cross-sectional investigation was held at District Early Intervention Center (DEIC), Visakhapatnam from 2016 to 2020. To identify the pattern and trend of different BDs including seasonal variations, a retrospective analysis of the health center's inpatient database for the past 5 years was done. Male and female children aged 2 months-18 years are included in the study with the prior permission of the concerned medical officer. The screening tool developed by the Ministry of Health and Family Welfare, India, was used for the study. ResultsAmong 26,423 cases, children with birth defects (BDs) are 962, 2229 with deficiencies, 7516 with diseases, and 15716 with Developmental Delays (DDs) & Disabilities were admitted during the study period. From birth defects, congenital deafness occurred in large numbers with 22.66%, and neural tube defect observed in a small number of cases with 0.83% during the period. From the side of deficiencies, severe acute malnutrition has mostly occurred (66.80%) and a small number of children were affected with goiter (1.70%). ConclusionThrough this study, it is observed that the incidence of birth defects, as well as genetic disease burden, is high in the Visakhapatnam district. Hence there is a need for strengthening of management services for these diseases in this region.

Nutrient Transporter Gene Expression in the Early Conceptus-Implications From Two Mouse Models of Diabetic Pregnancy.

Maternal diabetes in early pregnancy increases the risk for birth defects in the offspring, particularly heart, and neural tube defects. While elevated glucose levels are characteristic for diabetic pregnancies, these are also accompanied by hyperlipidemia, indicating altered nutrient availability. We therefore investigated whether changes in the expression of nutrient transporters at the conception site or in the early post-implantation embryo could account for increased birth defect incidence at later developmental stages. Focusing on glucose and fatty acid transporters, we measured their expression by RT-PCR in the spontaneously diabetic non-obese mouse strain NOD, and in pregnant FVB/N mouse strain dams with Streptozotocin-induced diabetes. Sites of expression in the deciduum, extra-embryonic, and embryonic tissues were determined by RNAscope in situ hybridization. While maternal diabetes had no apparent effects on levels or cellular profiles of expression, we detected striking cell-type specificity of particular nutrient transporters. For examples, Slc2a2/Glut2 expression was restricted to the endodermal cells of the visceral yolk sac, while Slc2a1/Glut1 expression was limited to the mesodermal compartment; Slc27a4/Fatp4 and Slc27a3/Fatp3 also exhibited reciprocally exclusive expression in the endodermal and mesodermal compartments of the yolk sac, respectively. These findings not only highlight the significance of nutrient transporters in the intrauterine environment, but also raise important implications for the etiology of birth defects in diabetic pregnancies, and for strategies aimed at reducing birth defects risk by nutrient supplementation.

Optimal Follow-Up Duration for Assessment of Birth Defects After In Vitro Fertilization-Embryo Transfer: A Multicenter 5-Year Cohort Study in China.

ObjectiveTo investigate the impact of a 5-year follow-up on the incidence of identified birth defects in children conceived using assisted reproductive technologies (ART).MethodsA 5-year cohort study was performed in three ART centers from January 2013 to October 2018. 1,543 women with 1,985 infants who delivered successfully or underwent termination of pregnancy due to malformations were recruited in this study. Follow-up was conducted by phone interview, 7 days, 1 year, 3 years, and 5 years after birth. Collected data included whether one or more birth defects were diagnosed, the category of birth defects, and when the malformation was diagnosed. Cumulative incidence of birth defects and the loss to follow-up rate of each follow-up was compared.ResultsAccording to the diagnostic criterion of birth defects, 111 cases of one or more birth defects were recorded, with a total of 117 birth defects after the 5-year follow-up. 0.2% (4/1,985) of birth defects were diagnosed before delivery; 2.7% (54/1,985) at 7 days; 5.0% (100/1,985) after 1 year; 5.5% (109/1,985) after 3 years; and 5.6% (111/1,985) after 5 years. 3.4% (4/117) of defects were diagnosed prenatally, 45.3% (53/117) of defects diagnosed within the first 7 days after delivery, 40.2% (47/117) diagnosed during 7 days to 1 year, and 9.4% (11/117) of defects diagnosed in 1–3 years after birth. The remaining 1.7% (2/117) of defects were diagnosed between the ages of 3 and 5 years. Among the 1,543 patients, 99.9% patients (1,542/1,543) responded to the telephone interview at 7 days after delivery; the response rate was 89.0% (1,373/1,543) at 1 year, 81% (1,250/1,543) at 3 years, and 64.5% (995/1,543) after 5 years.ConclusionWe suggest that in ART, 1-year follow-up should be the minimum requirement and 3-year follow up the optimal length of follow-up that balances resource requirements with ascertainment completeness.

Maternal and obstetric outcomes are influenced by developmental stage and cryopreservation of transferred embryos after clomiphene citrate-based minimal stimulation IVF.

STUDY QUESTIONIs the embryo transfer (ET) method associated with maternal and perinatal outcomes after minimal stimulation IVF using clomiphene citrate (CC)?SUMMARY ANSWERThe incidence of pregnancy complications and adverse perinatal outcomes was influenced by the developmental stage (cleavage versus blastocyst stages) and cryopreservation (fresh versus vitrified) of the transferred embryos.WHAT IS KNOWN ALREADYPregnancies resulting from IVF are associated with higher risks of adverse perinatal outcomes compared to natural conceptions; therefore, the next focus in reproductive medicine should be to assess whether these increased risks are attributable to IVF. Pregnancy complications and perinatal outcomes should be considered in addition to pregnancy outcomes when selecting the ET method, however, studies that describe the influence of transfer methods on perinatal and maternal outcomes are limited.STUDY DESIGN, SIZE, DURATIONThis study retrospectively analysed a large single-centre cohort. The clinical records of 36 827 women who underwent oocyte retrieval (during a CC-based minimal stimulation cycle) followed by their first ET at the fertility treatment centre between January 2008 and December 2017 were retrospectively analysed. The patients underwent a single fresh cleavage-stage ET (SFCT), single vitrified-warmed cleavage-stage ET (SVCT) or single vitrified-warmed blastocyst transfer (SVBT). This study only included one cycle per patient.PARTICIPANTS/MATERIALS, SETTING, METHODSOocyte retrieval was performed following CC-based minimal ovarian stimulation. The embryos were transferred 2–3 days after retrieval or vitrified at the cleavage or blastocyst stage. The vitrified embryos were then warmed and transferred within the natural cycles. Pregnancy complications and perinatal outcomes were stratified according to the transfer methods used. Multivariate logistic regression analysis was performed to evaluate the effect of ET methods on the prevalence of pregnancy complications and congenital anomalies.MAIN RESULTS AND THE ROLE OF CHANCEThe rates of clinical pregnancy and delivery were significantly different among the groups. We analysed pregnancy complications in 7502 singleton births (SFCT, 3395 cycles; SVCT, 586 cycles; and SVBT, 3521 cycles). Multivariate logistic regression analysis revealed that the adjusted odds ratio (AOR) for hypertensive disorders in pregnancy was significantly lower in the SVBT group than in the SFCT group [AOR, 0.72; 95% CI, 0.56–0.92]. The AOR for low-lying placenta was lower in the SVBT group than in the SFCT group (AOR, 0.34; 95% CI, 0.19–0.60). The AOR for placenta previa was lower in the SVCT and SVBT groups than in the SFCT group (AOR, 0.21; 95% CI, 0.07–0.58 versus AOR, 0.53; 95% CI, 0.38–0.75, respectively). A total of 7460 follow-up data on neonatal outcomes was analysed. The AOR for preterm delivery was lower in the SVBT group than in the SFCT group (AOR, 0.78; 95% CI, 0.64–0.94). The AOR for low birthweight was significantly lower after SVCT and SVBT than after SFCT (AOR, 0.68; 95% CI, 0.46–0.98 versus AOR, 0.57; 95% CI, 0.48–0.66, respectively). The AOR for small for gestational age was lower in the SVCT and SVBT groups than in the SFCT group (AOR, 0.68; 95% CI, 0.46–0.98 versus AOR, 0.44; 95% CI, 0.36–0.55, respectively). The AOR for large for gestational age babies was higher in the SVBT group than in the SFCT group (AOR, 1.88; 95% CI, 1.62–2.18). The incidence of each congenital anomaly was similar among the groups.LIMITATIONS, REASONS FOR CAUTIONThe study data were collected through self-reported parental questionnaires on maternal and neonatal outcomes. Our findings were not compared with the incidence of pregnancy complications and congenital anomalies in natural pregnancies. Furthermore, this study was retrospective in nature; therefore, further studies are required to ascertain the generalizability of these findings to other clinics with different protocols and/or different patient demographics.WIDER IMPLICATIONS OF THE FINDINGSThis study demonstrated reassuring outcomes for SVBT (in terms of a lower incidence of pregnancy complications) compared to SFCT. Our findings provide valuable knowledge that will help improve perinatal and maternal outcomes in CC-based stimulation and inform couples of the possible benefits and risks of each type of ET method.STUDY FUNDING/COMPETING INTEREST(S)This research did not receive any specific grants from funding agencies in the public, commercial, or not-for-profit sectors. The authors have no conflicts of interest to declare.TRIAL REGISTRATION NUMBERN/A.

Year-end academic review of 2021: Advances in the field of birth defect prevention and control in China as of 2021

Year-end academic review of 2021: Advances in the field of birth defect prevention and control in China as of 2021

The China birth cohort study (CBCS)

The China birth cohort study (CBCS) is a prospective longitudinal, mega-cohort study and the first national-based birth cohort study, aiming to establish a birth cohort covering representative geographical areas of the whole of China to investigate risk factors for birth defects and develop strategies for their reduction. Pregnant women who are of Chinese nationality, are 6–13+6 weeks of gestation, plan to attend the routine antenatal examination and deliver in the study site, and give their informed, written consent are eligible to participate in this study. All participants are followed-up through an in-person interview at 20–23+6 weeks and again at 28–33+6 weeks of gestation, and at delivery, respectively. CBCS has been divided into three phases from 20th November 2017 to 31st December 2021, and the first two phases have now been completed on 29th February 2020, enrolling 120 377 eligible pregnant women during this period. During the same period a total of 40 837 participants had been followed up to the end of pregnancy. Study recruitment will continue until December 2021 to achieve the target of 500 000 participants. Meanwhile, biological samples including peripheral blood, amniocytes, cord blood, placenta, or umbilical cord tissue have been collected from participants according to various conditions. The incidence of birth defects in this group is 2.5% and congenital heart disease is the most common type of birth defect seen so far. A website is in the advanced stages of planning, to allow seamless data transfer and facilitate collaboration with groups around the world.

Trends and influencing factors of perinatal birth defects in Huai'an from 2008 to 2020.

To analyze the incidence, trends and related factors of birth defects in Huai'an from 2008 to 2020. The surveillance data from maternal and child health system of Huai'an from 2008 to 2020 and Huai'an Statistical Yearbook were used for analysis. Taking the annual change percentage and average annual change percentage (AAPC) as the main outcome indicators, the JoinPoint regression analysis was performed to estimate the changing trend of birth defects from 2008 to 2020. Spearman correlation analysis was used to examine the association between birth defects and birth rate, marriage rate, proportion of women with advanced maternal age. During 2008 to 2020, a total of 3414 cases of neonatal birth defects occurred in Huai'an, with an incidence of 4.6‰ (3414/736 608). The rate of perinatal birth defects in Huai'an showed an increasing trend (AAPC=8.8%, t=3.2, P<0.01), and the year of 2016 was a significant changing point. Among 24 types of birth defects, the incidence of congenital heart disease rose and became the most prevalent defect, while the incidence of neural tube malformations such as anencephaly, encephalocele and spina bifida was declined. The incidence of birth defect was negatively correlated with the birth rate ( r=-0.751, P<0.01), not correlated with marriage rate ( r=-0.516, P>0.05), and positively correlated with the proportion of women with advanced maternal age ( r=0.726, P<0.01). The incidence of birth defects in Huai'an shows an increasing trend from 2008 to 2020 with congenital heart disease as the most common type of birth defect, and the increase of birth defects incidence is closely related with the increase of the proportion of women with advanced maternal age.

Long-term trends in the incidence of congenital anomalies in Central China from 1997 to 2019

ObjectiveThe aim of the study was to investigate the incidence of, and trends in, congenital anomalies in Central China from 1997 to 2019. Study designThis was a descriptive study. MethodsWe collected data describing 4,134,098 births from 75 hospital monitoring sites in Henan Province, Central China, from 1997 to 2019. A joinpoint regression model was used to analyze the continuous changes. ResultsThere were 4,134,098 births recorded from 1997 to 2019, of which 50,646 noted the presence of congenital anomalies (incidence: 122.5 per 10,000). The incidence of congenital anomalies was found to have increased over time (P-trend <0.05). Congenital anomaly incidence in urban areas was higher than that in rural areas (155.3 per 10,000 vs 100.7 per 10,000; P < 0.001). Moreover, incidence was higher in males than in females (129.1 per 10,000 vs 112.9 per 10,000; P < 0.001). The incidence of neural tube defects significantly reduced from 1997 to 2019 (39.3 per 10,000 in 1997 vs 0.92 per 10,000 in 2019, P-trend <0.001), whereas the incidence of congenital heart disease (CHD) increased (5.56 per 10,000 in 2010 to 136.46 per 10,000 in 2019), which meant that CHD was the most common congenital anomaly post-2013. ConclusionIn Henan province, the incidence of congenital anomalies increased by 115% from 1997 to 2019. Notably, the incidence of CHD is rising.

Does Testicular Sperm Alter Reproductive and Perinatal Outcomes in Assisted Reproductive Technology Cycles? 10 Years' Experience in an Indian Clinic.

Intra-Cytoplasmic Sperm Injection (ICSI) has revolutionized the reproductive outcomes for couples with male factor infertility. Especially in azoospermic men, use of ICSI with surgically retrieved testicular sperm has helped them have their own biological child. However, considering the immature nature of testicular sperm safety of testicular sperm has been debated. To compare reproductive outcomes, neonatal outcomes and the incidence of congenital malformations in children born after intracytoplasmic sperm injection (ICSI), using different sperm origins. This is a retrospective study in which a total of 989 participants were enrolled. Study group (Testicular Sperm Aspiration (TESA) ICSI group) had 552 couples with female partners aged ≤37 and had self gamete cycles. ICSI cycles with ejaculated sperm (EJS) acted as the control group. All male patients underwent surgical sperm retrieval and all the women underwent controlled ovarian stimulation and transvaginal oocyte retrieval and Ovum Pick Up (OPU) as per the standard operating procedures of the clinic. Frozen embryo transfer with two good-grade blastocysts, which had shown 100% survival, were transferred in subsequent cycles. The Student's t-test was performed for age distribution; odds ratio was performed to find the confounding factors. Embryonic and reproductive outcomes were comparable and not statistically significant in the study and control groups. Incidence of congenital anomalies was observed in singleton live births and twin live births in both the TESA-ICSI group and the EJS-ICSI group, but the difference was not statistically significant. Our study revealed that congenital malformations in children born out of ICSI using testicular sperm and EJS were similar; no difference was observed in miscarriages between the testicular sperm-ICSI and EJS-ICSI group. Our data suggests that surgical sperm retrieval in couples with male factor infertility does not alter their reproductive outcome.

22q11.2 duplications: Expanding the clinical presentation

22q11.2 duplication syndrome has a frequency of ~1/700 in the intellectual disability population. Despite this frequency, there is limited information on the variable clinical presentation. Although the phenotype and incidence of congenital anomalies are well described for 22q11.2 deletion syndrome, they are not as well understood for individuals with 22q11.2 duplication syndrome. This study is a single-center, retrospective review of patients diagnosed with 22q11.2 duplication syndrome designed to categorize the variable phenotype seen in these individuals. The data suggest that the incidence of congenital anomalies may be higher than previously reported for this syndrome. Affected individuals are at increased risk for a variety of problems including gastrointestinal complications, endocrine dysfunction, ophthalmologic abnormalities, palatal anomalies, congenital heart disease, musculoskeletal differences, and neurologic abnormalities. Individuals with 22q11.2 duplication syndrome would benefit from care coordinated by a multidisciplinary team and managed according to the 22q11.2 deletion syndrome guidelines.

A spectrum of epididymis and vas deferens anomalies among children with cryptorchidism: a retrospective multi-center study

BackgroundVasoepididymal anomalies are not rare among children with cryptorchidism. They may affect fertility following orchiopexy. Herein, we describe the cases of abnormalities of the vas deferens and epididymis in children undergoing orchidopexy for cryptorchidism. Data were collected retrospectively from six centers providing care for patients with undescended testicles from September 2017 to February 2019. All patients whose congenital anomalies of the epididymis or vas deferens were discovered incidentally during operative intervention for cryptorchidism and where photographs of the anomalies were taken were included.ResultsThe total incidence of congenital anomalies on the 467 testicles which had operations was 13.2%. Congenital epididymal and vas deferens anomalies were more common on the left side than the right side in patients with cryptorchidism (P = 0.038). Attachment anomalies between the epididymis and testis were the most common epididymal anomaly (36.3%), while a vanished vas deferens was the most frequent vas deferens anomaly (18%). Three patients had absent vas deferens, two had curled vas deferens, two had vas deferens separated from the epididymis, and one had a duplicated vas deferens. Three patients had an epididymal cyst, one had an enlarged appendix of the epididymis, and one had epididymal agenesis.ConclusionAttention must be paid during any surgery on an undescended testicle as an anomaly of the vas deferens could lead to unexpected complications. Anomalies of the vas deferens or epididymis that present in cases of cryptorchidism occur mostly on the left side.

Epidemiology of Birth Defects in Eastern China and the Associated Risk Factors

BackgroundThis study aimed to survey the overall situation of birth defects (BDs) among citizens of Hangzhou, China, and the risk factors of different BD types.Material/MethodsWe collected the data of 4349 perinatal infants with BDs in Hangzhou. The potentially associated risk factors of BDs were recorded and logistic regression analysis was used to predict the high incidence of BDs.ResultsAmong all perinatal infants with BDs, there were 4105 (94.3%) single births, 225 (5.2%) twin births, and 10 (0.2%) multiple births. In clinical outcomes, there were 2477 (57.0%) live births, 1806 (41.5%) dead fetuses, and 11 (0.3%) stillbirths. Down syndrome ranked first, accounting for 30.7% of the total births, followed by cleft lip and polydactyly. Low family income, nulliparity, high parity, high education level, and taking contraceptives in early pregnancy were found to be risk factors of Down syndrome. Low parity, low education level, and pesticide exposure were found to be risk factors of cleft lip. For polydactyly, young age of the mother and a parity above 0 were identified as risk factors.ConclusionsDifferent risks factors can influence BD development and potentially help to predict specific BD types, such as demographic features and harmful exposure in early pregnancy.

The Effect of COVID-19 Infection During Pregnancy; Evaluating Neonatal Outcomes and the Impact of the B.1.1.7. Variant.

Background:Coronavirus disease 2019 (COVID-19) infection during pregnancy has been associated with adverse perinatal outcomes. We aim to evaluate the neonatal outcomes including the incidence of preterm birth, admission to the neonatal unit and incidence of congenital anomalies in this cohort. We will also describe these outcomes in the context of the B.1.1.7. variant outbreak, the dominant variant in Ireland since January 2021, which has had a greater impact on pregnant patients.Methods:This was a retrospective study of liveborn infants, delivered between 1st March 2020 and 1st March 2021, to women with a severe acute respiratory syndrome coronavirus 2 diagnosis during pregnancy, in a tertiary maternity hospital (8,500 deliveries/year). Clinical data were collected, and analyses were performed to evaluate the impact of maternal symptom status, time from diagnosis to delivery and the B.1.1.7. variant on neonatal outcome.Results:In total 133 infants (1.6%) were born to women with severe acute respiratory syndrome coronavirus 2 identified during pregnancy. The median birth weight was 3.45 kg and gestational age at birth was 39.3 weeks. 14 infants (10.5%) were preterm. 22 infants (16.5%) required admission to the neonatal unit and 7 (5.3%) were small for gestational age. There was no difference in growth, preterm birth or neonatal unit admission based on maternal symptom status or infection after the outbreak of B.1.1.7. as the dominant strain.Conclusions:Following a COVID-19 infection in pregnancy, there was no increase in the incidence of preterm birth or neonatal intensive care unit admission compared with 5-year hospital data. Maternal symptom status did not influence neonatal outcomes. Further studies to evaluate the impact of COVID-19 in early pregnancy, the variants of concern, particularly the emerging Delta variant and COVID-19 placentitis are required.

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Lebanon has a high annual incidence of birth defects at 63 per 1000 live births, most of which are due to genetic factors. The Catalogue for Transmission Genetics in Arabs (CTGA) database, currently holds data on 642 genetic diseases and 676 related genes, described in Lebanese subjects. A subset of disorders (14/642) has exclusively been described in the Lebanese population, while 24 have only been reported in CTGA and not on OMIM. An analysis of all disorders highlights a preponderance of congenital malformations, deformations and chromosomal abnormalities and demonstrates that 65% of reported disorders follow an autosomal recessive inheritance pattern. In addition, our analysis reveals that at least 58 known genetic disorders were first mapped in Lebanese families. CTGA also hosts 1316 variant records described in Lebanese subjects, 150 of which were not reported on ClinVar or dbSNP. Most variants involved substitutions, followed by deletions, duplications, as well as in-del and insertion variants. This review of genetic data from the CTGA database highlights the need for screening programs, and is, to the best of our knowledge, the most comprehensive report on the status of genetic disorders in Lebanon to date.

Вроджена цитомегаловірусна інфекція: рекомендації ICCRG та аспекти менеджменту, що знаходяться на етапі клінічних випробувань

Вроджена цитомегаловірусна (ЦМВ) інфекція залишається причиною сенсоневральної втрати слуху і аномалій розвитку нервової системи у новонароджених в розвинених країнах світу, що рідко діагностується. Відсутність уніфікованих рекомендацій негативно відбивається на глобальних зусиллях знизити частоту вроджених аномалій, асоційованих із ЦМВ. Власні катамнестичні спостереження за дітьми з мальформаціями нервової системи і сенсоневральними порушеннями, а також оцінка імунологічної відповіді на ЦМВ у вагітних і в період новонародженості ініціювали проведення поглибленого аналізу сучасної світової літератури. У статті подані напрямки мінімізації ризику вродженої цитомегаловірусної інфекції, що реалізуються в клінічних рекомендаціях, заснованих на висновках провідних світових експертів з виявлення та менеджменту вродженої цитомегаловірусної інфекції у вагітних і новонароджених, також окреслені перспективи менеджменту, що знаходяться на етапі клінічних випробувань.

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 &lt; 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 &amp;lt; 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 &amp;lt; 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