Rate Of Birth Defects Research Articles

Key insights into cannabis‐cancer pathobiology and genotoxicity

AbstractWhilst mitochondrial inhibition and micronuclear fragmentation are well established features of the cannabis literature mitochondrial stress and dysfunction has recently been shown to be a powerful and direct driver of micronucleus formation and chromosomal breakage by multiple mechanisms. In turn genotoxic damage can be expected to be expressed as increased rates of cancer, congenital anomalies and aging; pathologies which are increasingly observed in modern continent‐wide studies. Whilst cannabinoid genotoxicity has long been essentially overlooked it may in fact be all around us through the rapid induction of aging of eggs, sperm, zygotes, foetus and adult organisms with many lines of evidence demonstrating transgenerational impacts. Indeed this multigenerational dimension of cannabinoid genotoxicity reframes the discussion of cannabis legalization within the absolute imperative to protect the genomic and epigenomic integrity of multiple generations to come.

Risk Factors for Prematurity and Congenital Malformations in Assisted Reproductive Technology Pregnancies—A Retrospective Study

Background: Assisted reproductive technology (ART) nowadays plays a major role in the treatment of infertility, with the most frequently used techniques being in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). The objective of this study is to analyze pregnancies achieved using these ART techniques and their correlations with the prematurity and congenital malformations rates. Methods: This is an observational retrospective longitudinal study that includes 814 newborns conceived through an ART, namely IVF or ICSI. Results: Using a multivariate logistic regression analysis mode, there is a higher prematurity rate in twin pregnancies OR 16 (95% CI 10.7, 23.8), donor conception OR 1.8 (95% CI 1.1, 3.3) and PIH pregnancy OR 2.6 (95% CI 1.5, 4.5). The odds of malformations in these ART pregnancies are increased by the stage of the embryo (day 3) OR 2.6 (95% CI 1.3, 5.2), fresh embryo transfer OR 2 (95% CI 1.2, 3.4) and donor conception OR 2.3 (95% CI 1.2, 4.4). The ART used (IVF/ICSI) does not influence the prematurity or birth defects rate. Conclusions: Donor conception is found to increase the odds of both prematurity and congenital malformations. The ART used (IVF/ICSI) does not influence the prematurity or birth defects rate.

Retrospective Review of Congenital Anomaly Cases in Ruminants

This study was designed to provide data on the incidence rates of congenital anomalies and their distribution by organs and systems in calves, lambs and kids brought to Van Yuzuncu Yil University, Surgery Clinic between 2017-2023. The animal material of the study consisted of 1104 ruminants, including 886 calves, 183 lambs and 35 kids, aged 0-6 months. In addition to clinical examination, anomalies were diagnosed by using direct and indirect radiographic examinations when necessary. In some cases, a definitive diagnosis was made by performing experimental laparotomy based on clinical and radiological examinations. 341 out of 1104 ruminants, including 234 calves, 96 lambs and 11 kids, suffered from congenital anomalies. Of the ruminants with congenital anomalies, 208 (61.00%) were male, 132 (38.70%) female and 1 (0.30%) hermaphrodite. Abdominal wall anomalies were determined with the highest number of 112 (32.9%) cases. These were followed by musculoskeletal system anomalies in 83 (24.4%) cases and gastrointestinal system anomalies in 56 (16.5%) cases. Head region anomalies occurred in 41 cases (12.1%), urinary system anomalies in 23 cases (6.8%) and CNS anomalies in 9 cases (2.6%). Multiple anomalies were recorded in 16 (4.7%) cases. In conclusion, congenital anomalies are frequently seen as pathologies in ruminants in our country, especially in our region. Avoiding inbreeding, making artificial insemination widespread, improving the care and nutrition of the dam during pregnancy, correcting adverse environmental conditions and eliminating stress factors, avoiding over-the-counter medication misuse during pregnancy and most importantly informing field veterinarians and animal owners about the subject will contribute to the prevention of congenital malformations and losses in livestock.

Introducing second-trimester anatomic scanning for improved detection and management of congenital anomalies: Experience from a novice center in East Africa.

The aim of the current study was to describe the magnitude and pattern of congenital anomalies on routine second-trimester ultrasound and its practical implication in the management of pregnant women with fetal anomalies at a novice center in East Africa. This cross-sectional study was conducted from September 2021 to May 2022 among women who had second-trimester anatomic scanning. Data were collected using a structured questionnaire and analyzed using SPSS version 23.1. Ethical clearance was obtained from the hospital's institutional review board and informed consent was obtained. The number of congenital anomalies was 45 of 1764 (2.55%). Most (41%) were in the age group 26-30 years and multigravida (62%). Average gestational age at anatomic scanning was 24 weeks. One or more risk factors for congenital anomalies were reported in 19 (31.0%) of the mothers. Most sonographic fetal abnormalities (51.7%) were reported in the central nervous system, followed by renal (18.0%) and skeletal (11.5%). Among the central nervous system anomalies, severe ventriculomegaly was the most common (38.7%), followed by Arnold-Chiari malformation (19.4%). Thirty-five (2%) of the mothers had a lethal fetal congenital anomaly and their pregnancy was terminated after counseling and informed consent. The rate of congenital anomalies in this study is comparable with most international data. The introduction of second-trimester anatomic scanning has led to timely termination of anomalous pregnancies, which contributes to reduction in direct and indirect costs of care and family's psychosocial distress and the stigma associated with the birth of and caring for a child with disability.

Changes in adverse obstetrical and neonatal outcomes over time in American women with polycystic ovary syndrome: an 11-year study of a population database.

To determine whether the prevalence in American demographic and resultant adverse obstetric outcomes changed in women with polycystic ovary syndrome between the years of 2004-2014 inclusively, based on data derived from the Healthcare Cost and Utilization Project Nationwide Inpatient Sample (HCUP-NIS) database. This is a retrospective population-based study using data derived from the HCUP-NIS database from the years of 2004-2014, inclusively. Within this group, all pregnancies to women with PCOS were identified and separated by year, creating 11 groups. Risk factors including non-Caucasian race, lower socioeconomic status, andrates of obesity and thyroid disease increased over time.The rates of gestational diabetes mellitus demonstrated a slight decrease, (21.3% in 2004 to 18.0% in 2014, P = 0.01). The number of women with preterm premature rupture of membranes decreased from 3.0% in 2004 to 2.0% in 2014 (P = 0.04). Rates of preterm delivery decreased from 14.8% in 2004 to 9.8% in 2014 (P < 0.001). Rates of cesarean section decreased from 57.3% in 2004 to 45.7% in 2014 (P < 0.001), while rates of spontaneous vaginal delivery increased from 37.4% in 2004 to 50.1% in 2014 (P < 0.001). The rate of wound complications decreased from 2.1% in 2004 to 0.4% in 2014 (P < 0.001). However, the rate of congenital anomalies increased from 0.5% in 2004 to 1.2% in 2014 (P = 0.001). In spite of increases in demographic risk factors associated with increased pregnancy complications, we hypothesize that the interventions made to minimize the risks of cesarean section and manage metabolic complications in women with PCOS during the period of study have resulted in improved pregnancy outcomes during the period of study.

Exposure to golimumab during pregnancy: Results from the Company's global safety database.

Data on the use of golimumab (GLM) during pregnancy are limited. This study evaluated pregnancy outcomes in women treated with GLM during pregnancy. Cumulative data on GLM-exposed pregnancies from the Company's global safety database (GSD) are summarized. Cases were medically confirmed maternal exposures to GLM during pregnancy or within 3 months prior to conception with a reported pregnancy outcome. Pregnancy outcomes (e.g., live births) and congenital anomalies in prospectively reported cases (i.e., pregnancy outcome not known when first reported to the company) are presented in a descriptive manner. As of May 31, 2022, 261 prospectively reported pregnancies exposed to GLM were reported in the GSD: 214 (82.0%) live births (including six sets of twins), 31 (11.9%) spontaneous abortions (including one set of twins), 13 (5.0%) induced/elective abortions, 2 (0.8%) reported intrauterine death/still birth, and 1 (0.4%) fetal adverse event in an ongoing pregnancy. The majority of pregnancies had exposure to GLM at least in the first trimester of pregnancy. In total, seven congenital anomalies (7/261; 2.7%) were reported. Of these seven congenital anomalies, five were considered major according to EUROCAT classification version 1.4. Among the five prospectively reported congenital anomalies noted in live births (5/214; 2.3%), four were classified as major (4/214; 1.8%). The rates of adverse pregnancy outcomes and major congenital anomalies in prospectively reported pregnancy cases with exposure to GLM in the Company's GSD were consistent with published background rates for the general population.

O-092 Prevalence of multiple gestation births and perinatal outcomes in pregnancies secondary to clomiphene citrate treatment: a nationwide cohort study

Abstract Study question Is the incidence of multiple gestation births higher in pregnancies obtained after clomiphene citrate (CC) treatment compared to spontaneous pregnancies? Summary answer The rate of multiple gestation births in pregnancies obtained after CC treatment is significantly increased compared to spontaneous pregnancies. What is known already CC is a selective estrogen modulator frequently used to induce ovulation in infertile women. Data regarding the prevalence of multiple gestation births and adverse perinatal outcomes after CC are contradicting and based on meta-analysis of small sample size studies. Multiple gestations are frequently associated with complications such as preeclampsia, premature labor, and growth restriction, which contribute to higher mortality and morbidity rates. Study design, size, duration Using the French National Health Data System (SNDS) spanning 2013 to 2019, we conducted a nationwide cohort study including all pregnancies lasting more than 22 weeks of gestation, in women aged between 18-43 years. Participants/materials, setting, methods For each women, the first pregnancy during study was included. Women with the dispensing of IVF/ICSI treatment and/or gonadotrophins were excluded. Pregnancies exposed to CC (during the period [-60days,-11days] before the beginning of the pregnancy) were 1:10 matched to unexposed pregnancies. Pregnancies exposed to CC between 12 to 2months or less than 11 days before the beginning of the pregnancy were excluded to mitigate misclassification bias. The primary outcome was the multiple gestation birth rate. Main results and the role of chance Of 3,173,013 pregnancies, 32,010 (10 ‰) occurred in women exposed to clomiphene. The multiple pregnancy rate was significantly higher in pregnant women exposed with CC compared to matched controls (odd ratio 4.1, 95% CI [3.9-4.3]) such as twin pregnancies (OR 4.1, 95% CI [3.9-4.3]) and triple or more pregnancies (OR 5.1, 95% CI [3.8-7.2]). Women exposed to CC presented significantly more adverse obstetrical and perinatal outcomes, including stillbirths, premature delivery threats, premature rupture of membranes, gestational diabetes, placenta previa, gravid hypertension, pre-eclampsia, preterm birth, small for gestational age (SGA), C-section rate, and major birth defect rate. After stratification on multiple pregnancy and adjustment on confounders (history of psychiatric disease, diabetes, arterial hypertension, obesity and embryo reduction during pregnancy), women exposed to CC had a significantly higher risk of stillbirth, gestational diabetes, placenta previa, pre-eclampsia, preterm delivery and SGA in case of singleton pregnancies. Additionally, in the case of multiple pregnancies, they had a higher risk of placenta previa, preterm delivery, and SGA compared to non-exposed women. Limitations, reasons for caution The use of filled prescriptions as a measure of drug exposure could be subject to bias such as misclassification bias, although we attempt to mitigate it. Wider implications of the findings Clomiphene use is strongly associated with multiple gestation births and with adverse obstetrical and perinatal outcomes even in singleton pregnancies. These findings should provide awareness of practitioners and patients about its use. It underscore the importance of attentively monitoring follicular growth during the treatment process to avoid multiple pregnancies. Trial registration number NA

P-151 Investigation of pregnancy outcomes for blastocysts with microcellular leakage of trophectoderm or inner cell mass from ICSI-induced zona pellucida microslits

Abstract Study question How does ICSI-induced leakage of trophectoderm (TE) or inner cell mass (ICM) from microslits in the zona pellucida (ZP) affect pregnancy outcomes following blastocyst transfer? Summary answer Microcellular leakage of TE and ICM did not affect pregnancy outcome, but blastocysts with ICM leakage above 53.6% had a lower pregnancy rate. What is known already The leakage of TE cells through the ZP (trophectoderm vesicles; TV) has been reported to be more common in ICSI than in conventional IVF, caused by the opening of the ZP with microslits for ICSI. This phenomenon may be improved through the implementation of assisted hatching during transplantation, however, there are few reports investigating its impact on pregnancy.Furthermore, there are no reports on the impact of inner cell mass leakage (inner cell mass vesicles; IV) on pregnancy outcomes, and it is unclear what level of ICM leakage is acceptable for transplantation. Study design, size, duration In this retrospective study, we analyzed clinical medical reports at the Takahashi Women’s Clinic in Japan. A total of 551 patients (1093 blastocysts) who underwent freeze-thaw single blastocyst transfer with laser assisted hatching between January 2019 and October 2023 were included. Blastocysts used for transfer were 2PN embryos obtained by PIEZO-ICSI and cultured in a time-lapse incubator (EmbryoScope+). Participants/materials, setting, methods The blastocysts were classified into control (N = 682), TV (N = 377), and IV groups (N = 34). Pregnancy outcomes were compared using logistic regression analysis, considering patient age, blastocyst grade (Gardner criteria), culture days, BMI, and basal AMH. Bonferroni correction was used for multiplicity correction, considering P &amp;lt; 0.0167 as significant. The ICM leakage rate (%) was calculated as: (leaked ICM area/ICM area before leakage) × 100. Pregnancy cutoff was determined by ROC analysis. Main results and the role of chance The hatching rates for the control, TV, and IV groups were 69.6% (475/682), 78.8% (297/377), and 82.4% (28/34), respectively. Pregnancy rates (fetal heartbeat) were 44.6% (304/682), 57.0% (215/377), and 50.0% (17/34), respectively, and miscarriage rates were 26.3% (80/304), 26.0% (56/215), and 23.5% (4/17), respectively. Logistic regression analysis considering patient background showed no significant differences in hatching, pregnancy, and miscarriage rates (P &amp;gt; 0.05). Furthermore, mean weight, sex ratio, and congenital anomaly rates for the 107 and 7 children born in the TV and IV groups, respectively, were not significantly different than those for the 175 children born in the control group. In examining ICM leakage, the mean area before leakage was 3162.6 µm2 and mean area of leaked ICM was 1292.1 µm2 in the IV group, with an average of 40.9% of ICM leaking outside the clear zone. ROC analysis showed that the cutoff for ICM leakage rate for pregnancy was 53.6%, with significantly lower pregnancy rates when the ICM leakage rate was ≥53.6% (18.2% [2/11] vs 65.2% [15/23], p = 0.0255, Fisher’s exact test). Limitations, reasons for caution This study was conducted at a single in vitro fertilization center. Pregnancy, miscarriage, and fetal anomaly rates at birth related to embryo transplantation are based on ongoing pregnancy dates, and complete live birth data for all pregnancies are not yet available. Wider implications of the findings No differences in pregnancy outcomes or fetal anomalies were found among groups. However, pregnancy rates decreased when ICM leakage rates were over 53.6%. Blastocysts with IV may successfully establish a pregnancy, but considering the leaked ICM proportion is crucial. If considered for transplantation, obtaining sufficient informed consent is essential. Trial registration number not applicable

Fetal deaths from birth defects in Hunan Province, China, 2016–2020

To describe the fetal death rate of birth defects (including a broad range of specific defects) and to explore the relationship between fetal deaths from birth defects and a broad range of demographic characteristics. Data was derived from the birth defects surveillance system in Hunan Province, China, 2016–2020. Fetal death refers to the intrauterine death of a fetus at any time during the pregnancy, including medical termination of pregnancy. Fetal death rate is the number of fetal deaths per 100 births (including live births and fetal deaths) in a specified group (unit: %). The fetal death rate of birth defects with 95% confidence intervals (CI) was calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the relationship between each demographic characteristic and fetal deaths from birth defects. This study included 847,755 births, and 23,420 birth defects were identified. A total of 11,955 fetal deaths from birth defects were identified, with a fetal death rate of 51.05% (95% CI 50.13–51.96). 15.78% (1887 cases) of fetal deaths from birth defects were at a gestational age of < 20 weeks, 59.05% (7059 cases) were at a gestational age of 20–27 weeks, and 25.17% (3009 cases) were at a gestational age of ≥ 28 weeks. Fetal death rate of birth defects was higher in females than in males (OR = 1.25, 95% CI 1.18–1.32), in rural than in urban areas (OR = 1.43, 95% CI 1.36–1.50), in maternal age 20–24 years (OR = 1.35, 95% CI 1.25–1.47), and ≥ 35 years (OR = 1.19, 95% CI 1.11–1.29) compared to maternal age of 25–29 years, in diagnosed by chromosomal analysis than ultrasound (OR = 6.24, 95% CI 5.15–7.55), and lower in multiple births than in singletons (OR = 0.41, 95% CI 0.36–0.47). The fetal death rate of birth defects increased with the number of previous pregnancies (χ2trend = 49.28, P < 0.01), and decreased with the number of previous deliveries (χ2trend = 4318.91, P < 0.01). Many fetal deaths were associated with birth defects. We found several demographic characteristics associated with fetal deaths from birth defects, which may be related to the severity of the birth defects, economic and medical conditions, and parental attitudes toward birth defects.

Prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China, 2010–2020

To describe the prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China. Data were obtained from the population-based Birth Defects Surveillance System in Hunan Province, China (2010–2020). The surveillance population included all live births, stillbirths, infant deaths, and legal terminations of pregnancy from 28 weeks of gestation to 42 days after birth between 2010 and 2020 when the mother resided in the surveillance area (Liuyang County and Shifeng District, Hunan Province). The prevalence of birth defects is the number of birth defects per 1000 infants (‰). The death rate of birth defects is the number of deaths attributable to birth defects per 100 birth defects (%). The prevalence and death rate with 95% confidence intervals (CI) were calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with birth defects. Our study included 228,444 infants, and 4453 birth defects were identified, with a prevalence of 19.49‰ (95%CI 18.92–20.07). Congenital heart defects were the most common specific defects (5.29‰), followed by limb defects (4.01‰). Birth defects were more common in males than females (22.34‰ vs. 16.26‰, OR = 1.38, 95%CI 1.30–1.47), in premature birth than not (91.82‰ vs. 16.14‰, OR = 6.16, 95%CI 5.72–6.65), in birth weight < 2500 g (98.26‰ vs. 16.22‰, OR = 6.61, 95%CI 6.11–7.15) or > 4000 g (19.48‰ vs. 16.22‰, OR = 1.21, 95%CI 1.03–1.42) than birth weight 2500–4000 g, in hospitalized deliveries than other institutions (22.16‰ vs. 11.74‰, OR = 1.91, 95%CI 1.76–2.07), in multiple births than singletons (28.50‰ vs. 19.28‰, OR = 1.49, 95%CI 1.27–1.76), in maternal age < 20 years (26.33‰ vs. 18.69‰, OR = 1.42, 95%CI 1.15–1.76) or > = 35 years (24.31‰ vs. 18.69‰, OR = 1.31, 95%CI 1.18–1.45) than maternal age 25–29 years, and in number of pregnancies > = 4 (22.91‰ vs. 18.92‰, OR = 1.22, 95%CI 1.10–1.35) than the first pregnancy. A total of 747 deaths attributable to birth defects were identified, including 603 (80.72%) stillbirths, 75 (10.04%) deaths within 7 days after birth, 46 (6.16%) deaths in 7–27 days after birth, 23 (3.08%) deaths in 28–42 days after birth. The death rate of birth defects was 16.78% (95%CI 15.57–17.98). Deaths attributable to birth defects accounted for 51.09% (747/1462) of all deaths. Central nervous system defects had the highest death rate (90.27%), and neonatal genetic metabolic defects had the lowest death rate (0.39%). In summary, we have described the prevalence and epidemiology of birth defects from population-based surveillance in Hunan Province, China, 2010–2020. There were differences in the prevalence and death rate of birth defects between population-based surveillance and hospital-based surveillance.

Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals

To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale, multicenter carrier screening. This study was conducted among a total of 33 104 participants (16 610 females) from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods. The overall combined carrier frequency was 55.58% for 197 autosomal genes and 1.84% for 26 X-linked genes in these participants.Among the 16 669 families, 874 at-risk couples (5.24%) were identified.Specifically, 584 couples (3.50%) were at risk for autosomal genes, 306(1.84%) for X-linked genes, and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A, 393 couples), HBA1/HBA2(α-thalassemia, 36 couples), PAH (phenylketonuria, 14 couples), and SMN1(spinal muscular atrophy, 14 couples).The most frequently detected X-linked at-risk genes were G6PD (G6PD deficiency, 236 couples), DMD (Duchenne muscular dystrophy, 23 couples), and FMR1(fragile X syndrome, 17 couples).After excluding GJB2 c.109G>A, the detection rate of at-risk couples was 3.91%(651/16 669), which was lowered to 1.72%(287/16 669) after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95% of at-risk couples, while screening for the top 54 genes further increased the detection rate to over 99%. This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing, genetic counseling for specific genes or gene variants can be challenging, and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked.

Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities. A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities. The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists' physical examination.

Safety profiles of offspring born from early-follicular long-acting GnRH agonist protocol and daily mid-luteal GnRH agonist protocol: a retrospective study

BackgroundThe gonadotropin hormone-releasing hormone agonists (GnRH-a) have been widely used for controlled ovarian stimulation in assisted reproductive technology (ART). The early-follicular long-acting GnRH-a long protocol (EFL) and the luteal phase short-acting GnRH-a long protocol (LPS) are commonly used GnRH agonist protocols. We conducted a retrospective analysis to assess and compare the rates of congenital abnormalities and safety profiles in offspring born from the EFL and LPS protocols.MethodsWe conducted a retrospective cohort study to analyze and compare neonatal data from patients who using EFL or LPS protocols at our center between January 1, 2014, and June 30, 2017. The study ultimately included 1810 neonates from 1401 cycles using the EFL protocol and 2700 neonates from 2129 cycles using the LPS protocol.The main outcome measures are gestational age at delivery, birth weight, and congenital anomaly rate.To assess the influence of various factors on congenital abnormalities, a random-effects logistic regression model was employed.ResultsThe EFL and LPS protocols led to similar congenital anomaly rates (1.64% vs. 2.35%, P = 0.149). No significant differences were found between the two groups regarding birth weight and its categories, newborn gender and congenital anomaly rate. The results of the multivariate logistic regression model indicated no association between congenital anomaly and BMI, duration of infertility, treatment protocol, fertilization method, or embryo transfer stage. Compared with singleton pregnancies, the probability of congenital defects in multiple pregnancies was 2.64 times higher (OR: 2.64, 95% CI: 1.72–4.05, P < 0.0001). Newborns with congenital defects were born with a lower gestational age compared with full-term pregnancies.ConclusionIn conclusion, the EFL protocol is considered a safe option for ensuring offspring safety, comparable with the LPS protocol; however, multiple pregnancies represent an independent risk factor for congenital abnormalities. This approach can be widely adopted; however, prioritizing single embryo transfers is strongly recommended to minimize the potential risks associated with multiple pregnancies in offspring.

Autonomous fetal morphology scan: deep learning + clustering merger – the second pair of eyes behind the doctor

The main cause of fetal death, of infant morbidity or mortality during childhood years is attributed to congenital anomalies. They can be detected through a fetal morphology scan. An experienced sonographer (with more than 2000 performed scans) has the detection rate of congenital anomalies around 52%. The rates go down in the case of a junior sonographer, that has the detection rate of 32.5%. One viable solution to improve these performances is to use Artificial Intelligence. The first step in a fetal morphology scan is represented by the differentiation process between the view planes of the fetus, followed by a segmentation of the internal organs in each view plane. This study presents an Artificial Intelligence empowered decision support system that can label anatomical organs using a merger between deep learning and clustering techniques, followed by an organ segmentation with YOLO8. Our framework was tested on a fetal morphology image dataset that regards the fetal abdomen. The experimental results show that the system can correctly label the view plane and the corresponding organs on real-time ultrasound movies.Trial registrationThe study is registered under the name “Pattern recognition and Anomaly Detection in fetal morphology using Deep Learning and Statistical Learning (PARADISE)”, project number 101PCE/2022, project code PN-III-P4-PCE-2021–0057. Trial registration: ClinicalTrials.gov, unique identifying number NCT05738954, date of registration 02.11.2023.

Early diagnosis of solitary functioning kidney: comparing the prognosis of kidney agenesis and multicystic dysplastic kidney

BackgroundIndividuals with congenital solitary functioning kidney (SFK) are at an increased risk of kidney damage. According to some studies, the risk is higher in unilateral kidney agenesis (UKA) than in unilateral multicystic dysplastic kidney (UMCDK). We hypothesized that with early detection of children with UKA and UMCDK, there would be no difference in the presence of hypertension, proteinuria, and reduced glomerular filtration rate (GFR) between UKA and UMCDK.MethodsBased on a long-term follow-up protocol, we evaluated a cohort of 160 children followed from birth for SFK (84 with UKA and 76 with UMCDK) detected by prenatal or routine neonatal ultrasound screening. Hypertension, proteinuria, and reduced GFR were monitored as markers of kidney damage. We compared the characteristics and outcomes of the subgroups of children with UKA and UMCDK.ResultsGFR was reduced in 42 (26.2%) children, of whom 41 showed only mild reduction. Hypertension and proteinuria were found in 22 (13.8%) and 14 (8.8%) children, respectively. Combined kidney damage was present in 57 (35.6%) children. The UMCDK and UKA subgroups differed in GFR at final examination, with UMCDK patients being significantly more likely to have normal GFR compared to UKA patients (82% vs. 67%; p = 0.039).ConclusionsOne third of the children showed signs of SFK damage, albeit mild. Patients with UKA had reduced GFR significantly more often than those with UMCDK, but did not differ in the rates of hyperfiltration injury or congenital anomalies of the kidneys and urinary tract (CAKUT) in SFK.Graphical A higher resolution version of the Graphical abstract is available as Supplementary information

Correlations of Birth Defects With Birth Weight and Gestational Age

Objective To analyze the incidence rate of birth defects in infants born at different gestational ages and birth weights,so as to provide a basis for improving the surveillance system and reducing the incidence of birth defects. Methods Data of all perinatal infants born at and after 28 weeks of gestation and within 7 days after delivery in all the hospitals with the obstetrical department from October 1,2003 to September 30,2015 were collected. Results From 2003 to 2015,1 236 937 perinatal infants were monitored,including 10 619 with birth defects (incidence rate of 8.59‰).Among the infants with birth defects identified by the hospital surveillance system of birth defects in Xi'an during the study period,3 306,3 473,and 224 infants showed the birth weights less than 2 500 g,the gestational age within the range of [28,37] weeks,and the gestation age≥42 weeks,respectively.The low birth weight infants showed higher incidence rate of birth defects than the normal birth weight infants (χ2=37 097.79,P<0.001).The premature infants (gestational age<37 weeks) and postterm infants (gestational age≥42 weeks) showed higher incidence rates of birth defects than infants born at normal gestational age (χ2=24 998.24,P<0.001;χ2=196.40,P<0.001).The top five birth defects of low birth weight infants were congenital hydrocephalus,spina bifida,congenital heart disease,anencephaly,and cleft lip and cleft palate.The outcomes of birth defects in normal weight infants and low weight infants were mainly live births (68.60%) and stillbirths (54.72%),respectively,which showed a significant difference (χ2=647.59,P<0.001).The main outcomes of birth defects in the infants born at normal gestation age,postterm infants,and premature infants were mainly live births (77.38%),live births (83.93%),and stillbirths (57.79%),respectively,which showed significant differences (premature infants vs.infants born at normal gestation age: χ2=2 025.08,P<0.001;premature infants vs. postterm infants:χ2=245.39,P<0.001;infants born at normal gestation age vs.postterm infants:χ2=16.28,P=0.001). Conclusions Premature infants,low birth weight infants,and postterm infants showed significantly higher incidence rate of birth defects than the infants born at normal gestation age.The outcomes of birth defects had significant differences between low birth weight infants and normal birth weight infants,between premature infants and infants born at normal gestation age,between premature infants and postterm infants,and between infants born at normal gestation age and postterm infants.

Safety evaluation of single-sperm cryopreservation technique applied in intracytoplasmic sperm injection.

Intracytoplasmic sperm injection (ICSI) is a technique that directly injects a single sperm into the cytoplasm of mature oocytes. Here, we explored the safety of single-sperm cryopreservation applied in ICSI. This retrospective study enrolled 186 couples undergoing ICSI-assisted pregnancy. Subjects were allocated to the fresh sperm (group A)/single-sperm cryopreservation (group B) groups based on sperm type, with their clinical baseline/pathological data documented. We used ICSI-compliant sperm for subsequent in vitro fertilization and followed up on all subjects. The recovery rate/cryosurvival rate/sperm motility of both groups, the pregnancy/outcome of women receiving embryo transfer, and the delivery mode/neonatal-related information of women with successful deliveries were recorded. The clinical pregnancy rate, cumulative clinical pregnancy rate, abortion rate, ectopic pregnancy rate, premature delivery rate, live birth delivery rate, neonatal birth defect rate, and average birth weight were analyzed. The two groups showed no significant differences in age, body mass index, ovulation induction regimen, sex hormone [anti-Müllerian hormone (AMH)/follicle-stimulating hormone (FSH)/luteinizing hormone (LH)] levels, or oocyte retrieval cycles. The sperm recovery rate (51.72%-100.00%) and resuscitation rate (62.09% ± 16.67%) in group B were higher; the sperm motility in the two groups demonstrated no significant difference and met the ICSI requirements. Group B exhibited an increased fertilization rate, decreased abortion rate, and increased safety versus group A. Compared with fresh sperm, the application of single-sperm cryopreservation in ICSI sensibly improved the fertilization rate and reduced the abortion rate, showing higher safety.

Idiopathic intracranial hypertension and obstetric and neonatal outcomes: A 1:20 matched study from a population database.

Idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri, is a common pathology in reproductive-aged women, although data regarding pregnancy outcomes are scarce. In the present study, we aimed to compare pregnancy and perinatal outcomes between women who suffered from IIH to those who did not. A retrospective cohort study using the Healthcare Cost and Utilization Project, Nationwide Inpatient Sample. All pregnant women who delivered or had a maternal death in the US (2004-2014) were included. Women with an ICD-9 diagnosis of IIH before or during pregnancy were matched to controls without IIH according to age, race, insurance type, and income quartile, in a 1:20 ratio. Pregnancy, delivery, and neonatal outcomes were compared between the two groups. Overall, 9 096 788 deliveries were identified. Of these, 1454 women (0.016%) had a diagnosis of IIH (study group) and were compared to 29 080 women without IIH (control group). Women with IIH, compared to those without, were more likely to be obese (body mass index >30 kg/m2) and suffer from pregestational diabetes mellitus and chronic hypertension (P < 0.001, all). After adjusting for confounders, patients in the IIH group, compared to those without, had a higher rate of pregnancy-induced hypertension (aOR 1.82, 95% CI: 1.57-2.1, P < 0.001), pre-eclampsia (aOR 1.98, 95% CI: 1.61-2.45, P < 0.001), preterm delivery (aOR 1.88, 95% CI: 1.59-2.23, P < 0.001), CD (aOR 2.41, 95% CI: 2.12-2.73, P < 0.001), wound complications (aOR 3.2, 95% CI: 1.89-5.42, P < 0.001), and congenital anomalies (aOR 2.18, 95% CI: 1.4-3.4, P < 0.001). Women with IIH had a higher incidence of obstetrical complications, including preterm deliveries, hypertensive disorders of pregnancy, and congenital anomalies.

Building Healthy Babies: A Mixed-Methods Needs Assessment for a Pre-Conception Program in Ontario

ObjectivesThe objective of this study was to gather Ontario clinicians’ and public members’ views on the design of a pre-conception patient education program. MethodsIn this mixed-methods study, online surveys comprised of rank order, multiple choice, and short answer questions were completed by clinicians and public members. Semi-structured focus groups consisting of 2–6 participants each were then held via videoconference. Demographic variables and survey responses were analyzed quantitatively using descriptive and summary statistics. Descriptive thematic qualitative analysis using the constant comparative method of grounded theory was completed on each transcript to generate themes. ResultsA total of 168 public members and 43 clinicians in Ontario completed surveys, while 11 clinicians and 11 public members participated in the focus groups. A pre-conception program in Ontario was felt to be important. An individual appointment with a primary care provider was the favoured program format per survey responses, whereas a virtual format with an interactive component was preferred among focus group participants. Important topics to include were pre-conception health (infertility, genetic screening, folic acid), prenatal and postpartum counselling (diet, activity, substance use, prenatal care, postpartum course), and medical optimization in pregnancy (high-risk medical conditions, medications, mental health). Both groups emphasized the need to consider accommodations for marginalized populations and various cultures and languages. ConclusionA standardized pre-conception patient education program is felt to be of high value by Ontario clinicians and public members. A pre-conception program may help improve obstetrical outcomes and decrease rates of major congenital anomalies in Ontario.

Transient ischemic attack and pregnancy, delivery and neonatal outcomes-An evaluation of a population database.

Transient ischemic attack (TIA) is rare in women of reproductive age. We aimed to compare perinatal outcomes between women who suffered from a TIA to those who did not. A retrospective population-based cohort study utilizing the Healthcare Cost and Utilization Project, Nationwide Inpatient Sample (HCUP-NIS). All women who delivered or had a maternal death in the US (2004-2014) were included in the study. Pregnancy, delivery, and neonatal outcomes were compared between women with an ICD-9 diagnosis of a TIA to those without. Overall, 9 096 788 women met the inclusion criteria. Of these, 203 women (2.2/100000) had a TIA (either before or during pregnancy). Women with TIA, compared to those without, were more likely to be older than 35 years of age, white, in the highest income quartile, be insured by private insurance and suffer from obesity and chronic hypertension. Patients in the TIA group, compared to those without, had a higher rate of pregnancy-induced hypertension (aOR 2.5, 95% CI: 1.55-4.05, P < 0.001), pre-eclampsia (aOR 3.77, 95% CI: 2.15-6.62, P < 0.001), eclampsia (aOR 28.05, 95% CI: 6.91-113.95, P < 0.001), preterm delivery (aOR 1.78, 95% CI: 1.03-3.07, P = 0.039), and maternal complications such as deep vein thrombosis (aOR 33.3, 95% CI: 8.07-137.42, P < 0.001). Regarding neonatal outcomes, patients with a TIA, compared to those without, had a higher rate of congenital anomalies (aOR 7.04, 95% CI: 2.86-17.32, P < 0.001). Women with a TIA diagnosis before or during pregnancy had a higher rate of maternal complications, including hypertensive disorders of pregnancy and venous thromboembolism, as well as an increased risk of congenital anomalies.