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RATIONALE: Pregnancy is a special term in life with physiological changes in both cardiorespiratory and immune systems; that is why severe acute respiratory syndrome coronavirus 2 infection in pregnancy may result in an altered response. With this, we present a case report of a young pregnant lady who was exposed to severe acute respiratory syndrome coronavirus 2 infection just before pregnancy and ended up with an affected fetus. The impact of coronavirus disease 2019 (COVID-19) exposure on neonatal outcomes has not yet been fully evaluated; by this article, we aim to find if COVID-19 exposure is linked to congenital anomalies. PATIENT CONCERNS: A 25-year-old woman who has no history of genetic or chronic diseases applied to our clinic for routine control of pregnancy. She does not have a consanguineous marriage or any other potential risk factors for pregnancy. DIAGNOSES AND INTERVENTIONS: She had a history of COVID-19 polymerase chain reaction positivity 2 days before the first day of the last menstruation period and hospitalization for 7 days. After 7 days of treatment with favipiravir and levofloxacin, enoxaparin sodium, famotidine, paracetamol, budesonide, dornaz alfa, and vitamin C; her general situation gets better, and discharged from the hospital on the seventh day of hospitalization without any further treatment prescription. OUTCOMES: During her routine controls for pregnancy at first-trimester evaluation ultrasonography; there was right forearm aplasia and deformities at both feet and legs. LESSONS: In the literature, there is conflicting evidence about the impact of COVID-19 in pregnancy especially if the patient is confronted with the virus in the first trimester. Despite the increasing number of published studies on COVID-19 in pregnancy, there are insufficient good quality unbiased studies about the issue. Risk factors for COVID-19 overlap with the risk factors for pregnancy complications and the risk factors of the treatment prescribed. The impact of COVID-19 exposure on neonatal outcomes has not yet been fully evaluated; in this article, we aim to find if COVID-19 exposure is linked to congenital anomalies. Further research is needed to ascertain neonatal outcomes.

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BACKGROUND: The New York State Birth Defects Registry (BDR) has passive and active components. As part of statewide passive ascertainment, the BDR receives reports of International Classification of Diseases, Tenth Revision (ICD-10) codes and descriptive narratives on a wide range of birth defects. The BDR conducts enhanced active surveillance for selected birth defects in 14 counties, which includes medical record abstraction and clinician review. We sought to quantify agreement between the two surveillance approaches. METHODS: The analysis included live-born infants born with one of the 16 birth defects in 2018-2021 in the active surveillance counties (n = 1069 infants). We calculated positive predictive values (PPV) and 95% confidence intervals for each defect, defined as the percentage of cases confirmed in active surveillance among those in passive surveillance. Additionally, we calculated the percentage with each birth defect missed by passive surveillance. RESULTS: The PPV varied greatly by birth defect. The PPV was >90% for gastroschisis and cleft lip, but <70% for spina bifida, diaphragmatic hernia, truncus arteriosus, tricuspid atresia, hypoplastic left heart syndrome, coarctation of the aorta, and pulmonary atresia. The percentage missed by passive surveillance ranged from 2% for tetralogy of Fallot to 39% for tricuspid atresia. CONCLUSIONS: Active surveillance is an important strategy for ruling out false positive case reports for certain birth defects that we assessed, but not all of them. Passive surveillance programs can use our findings to develop targeted strategies for improving data quality of specific birth defects using active surveillance methods, thus optimizing limited resources.

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Neovaginas are surgically constructed to correct uterovaginal agenesis in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome or as part of gender-affirming surgery for transfeminine individuals. Understanding the assembly of the neovaginal microbiota is crucial for guiding its management. To address this, we conducted a longitudinal study on MRKH patients following laparoscopic peritoneal vaginoplasty. Our findings reveal that the early microbial assemblage exhibited stochastic characteristics, accompanied with a notable bloom of Enterococcus faecalis and genital Mycoplasmas. While both the pre-surgery dimple microbiota and the fecal microbiota constituted the primary species pool, the neovaginal microbiota developed into a microbiota that resembled that of a normal vagina at 6-12 months post-surgery, albeit with a bacterial vaginosis (BV)-like structure. By 2-4 years post-surgery, the neovaginal microbiota had further evolved into a structure closely resembling with the homeostatic pre-surgery dimple microbiota. This concords with the development of the squamous epithelium in the neovagina and highlights the pivotal roles of progressive selective forces imposed by the evolving neovaginal environment and the colonization tropism of vaginal species. Notably, we observed that strains of Lactobacillus crispatus colonizing the neovagina primarily originated from the dimple. Since L. crispatus is generally associated with vaginal health, this finding suggests potential avenues for future research to promote its colonization.

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition characterized by uterine and upper vaginal aplasia. It affects females with a normal female karyotype and typical secondary sex characteristics. The aim of this case report was to highlight the multidisciplinary management approach for MRKH syndrome, focusing on tailored interventions to address physical and psychological challenges and improve reproductive prospects. A 26-year-old married female presented to Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, Wardha, India, in January 2023 with primary amenorrhea. Physical examination revealed a blind vagina and a hypoplastic uterus, indicative of MRKH syndrome. Further evaluation, including pelvic magnetic resonance imaging (MRI), confirmed Müllerian duct abnormalities and bilateral ovarian anomalies. The absence of a functional vagina significantly impacted the patient's quality of life, leading to difficulties with sexual intercourse and emotional distress related to infertility. A collaborative approach involving a gynecologist and a psychiatrist at AVBRH was initiated to address these challenges. The patient underwent vaginoplasty to create a neovagina, enhancing the sexual function and intimate relationship with the spouse. However, due to the hypoplastic uterus, achieving motherhood through traditional means was not possible. Therefore, assisted reproductive techniques, in particular surrogacy, were explored. Normal, functional ovaries were harvested from the patient for use in surrogacy procedures. This comprehensive management strategy exemplifies the challenges associated with MRKH syndrome and underscores the importance of tailored interventions and long-term follow-up. The case highlights the significance of collaborative care in improving the quality of life and reproductive prospects for individuals with MRKH syndrome.

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Genetic variants in the zone of polarizing activity regulatory sequence (ZRS) that induce ectopic expression of the SHH gene have been associated with different ZRS-related phenotypes. We report the first patient with a de novo variant, c.423+4916 T>C, in ZRS (previously classified as a variant of uncertain significance) that causes tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS). A two-month-old male patient presented with bilateral preaxial polydactyly, triphalangeal thumb, and tibial agenesis and was heterozygous for the variant c.423+4916T>C (neither of his parents was a carrier). The findings obtained from the family study were sufficient to reclassify the variant from "uncertain significance" to "likely pathogenic" according to three criteria from the American College of Medical Genetics and Genomics guidelines, as follows: (1) absence of gnomAD, (2) confirmation of paternity and maternity, and (3) strong phenotype-genotype association. In ZRS-associated syndromes, a wide clinical spectrum has been observed, ranging from polydactyly to THPTTS; our patient has the most severe and rare phenotype. We did not perform functional assays. However, the c.423+4916T>C variant is flanked by three variants, which have been proven not only to cause the phenotype but also to increase the expression of SHH. Through all this data gathering, we consider the c.423+4916T>C variant to be causative of THPTTS.

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BACKGROUND: Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to evaluate its diagnostic yield. METHODS: In this retrospective cohort study, the couples performing prenatal exome sequencing were enrolled. Fetal phenotype was classified according to ultrasound and magnetic resonance imaging findings. Genetic variants were analyzed based on a phenotype-driven followed by genotype-driven approach in all trios. RESULTS: A total of 97 diagnostic variants in 65 genes were identified in 69 fetuses, with an average detection rate of 13.48%. Skeletal and renal system were the most frequently affected organs referred for whole exome sequencing, with the highest diagnostic rates. Among them, short femur and kidney cyst were the most common phenotype. Fetal growth restriction was the most frequently observed phenotype with a low detection rate (4.3%). Exome sequencing had limited value in isolated increased nuchal translucency and chest anomalies. CONCLUSIONS: This study provides our data on the detection rate of whole exome sequencing in fetal anomalies in a large cohort. It contributes to the expanding of phenotypic and genotypic spectrum.

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OBJECTIVE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that results in vaginal agenesis. Lee's neovaginoplasty is a novel surgery for reconstructing the vagina. Transneovaginal oocyte retrieval completely changes the scope of fertility for patients with MRKH syndrome who have undergone neovaginal reconstruction. CASE REPORT: A 22-year-old female with type 1 MRKH syndrome underwent Lee's neovaginoplasty successfully. Four years later, she sought embryo cryopreservation consultation and underwent controlled ovarian hyperstimulation. Upon examination, her anti-Müllerian hormone level was 1.97 ng/ml and she had only eight antral follicles. The neovaginal length was 8 cm with elasticity and extensibility. Transneovaginal oocyte retrieval was performed under ultrasound guidance, and seven oocytes were retrieved. The follicle-to-oocyte index was 87.5%. CONCLUSION: Lee's neovaginoplasty is a promising surgery for reconstructing the vagina in MRKH syndrome, and this case shows that transneovaginal oocyte retrieval can be successfully performed after vaginal reconstruction. This technique provides a minimally invasive option for retrieving oocytes in patients of MRKH syndrome.

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The purpose of this study was to investigate the pregnancy outcomes with a copper intrauterine device (IUD) in situ after 28 gestational weeks and the association between pregnancy with copper IUDs and neonatal congenital malformations. This retrospective study had compared the singleton pregnancies with the copper IUDs in situ and without after 28 gestational weeks in 1 delivery center of southeast China. The main exposure was a copper IUD in uterine cavity with pregnancy. The pregnant outcomes as preterm birth, premature rupture of membranes, infections were observed and compared. We had also compared neonatal congenital malformations in 2 groups. The statistical analysis was carried out using R (version 4.0.4; R Development Core Team) statistical software. Association between IUD use or duration of IUD use and adverse pregnancy outcomes were estimated using logistic model. Two-tailed P value < .05 was deemed statistically significant. A total of 148 pregnant women were included in our study, 74 with copper IUDs in situ were categorized into case group and 74 without IUDs during pregnancy into control group. No significant difference of maternal age, BMI, birth weight and gender were observed between 2 groups. In case group, the rates of preterm premature rupture of membranes (37.8%) and spontaneous preterm birth (23.0%) were significantly high compared to control group. Odds ratios of premature rupture of membranes and spontaneous preterm birth were 2.86 and 5.22 respectively. Women of elder age (≥35 years) in case group were more likely to experience premature rupture of membranes. The rates of neonatal congenital malformation were 10.8% (8/74) in case group and 1.4% (1/74) in control group respectively. We had found that pregnancy with copper IUD in situ increased the risk of premature rupture of membranes and spontaneous preterm birth after 28 gestation weeks, the risk of spontaneous preterm birth increased 5.22 times. Pregnancy with IUD in situ may be at increased risk of infection and neonatal malformation.

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OBJECTIVE: Provide an update on our institution's experience with utilizing transoral robotic surgery (TORS) in pediatric airway surgery and compare these results to surgery by traditional methods. METHODS: Pediatric patients who underwent TORS for treatment of upper airway pathology between 2010 and 2021 at our institution were retrospectively identified and compared to patients with the same or similar pathology who underwent a traditional (open or endoscopic) surgical approach over the same time period. Outcomes of interest included patient demographics, operative times, adverse events, hospital length of stay (LOS), and modified barium swallow (MBSS) results. RESULTS: Forty children (19M, 21F) underwent 46 TORS procedures. Mean age was 6.4 years (range: 6 days-17 years). Most commonly treated pathology included: laryngeal clefts (LC) (n = 18), lymphatic malformations (n = 9), and base of tongue masses (n = 7). Surgical time was decreased in traditional type I LC repairs (mean: 111 vs 149 min, P = 0.04) and lymphatic malformation excisions (59 vs 120 min, p = 0.005). Hospital LOS was increased in TORS type I LC repairs (2.6 vs 1.2 days, P = 0.04). Adverse event rate was similar between TORS and traditional cohorts (17 % vs 16 % cases, P = 0.9). Postoperative MBSS results were improved for TORS type I LC repairs at 6 months (70 % vs 33 %, P = 0.09) and 12 months (82 % vs 43 %, P = 0.05). CONCLUSIONS: Pediatric TORS is practical and safe and has comparable outcomes to traditional surgery. Robotic-assisted LC repair displayed improved postoperative swallow results versus traditional approaches and may be particularly useful in recurrent cases.

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Congenital birth defects contribute significantly to preterm birth, stillbirth, perinatal death, infant mortality, and adult disability. As a first step to exploring the mechanisms underlying this major clinical challenge, we analyzed the embryonic phenotypes of lethal strains generated by random mutagenesis. In this study, we report the gross embryonic and perinatal phenotypes of 55 lethal strains randomly picked from a collection of mutants that carry piggyBac (PB) transposon inserts. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses suggested most of the analyzed mutations hit genes involved in heart and nervous development, or in Notch and Wnt signaling. Among them, 12 loci are known to be associated with human diseases. We confirmed 53 strains as embryonic or perinatal lethal, while others were subviable. Gross morphological phenotypes such as body size abnormality (29/55, 52.73%), growth or developmental delay (35/55, 63.64%), brain defects (9/55, 16.36%), vascular/heart development (31/55, 56.36%), and other structural defects (9/55, 16.36%) could be easily observed in the mutants, while three strains showed phenotypes similar to those of human patients. Furthermore, we detected body weight or body composition alterations in the heterozygotes of eight strains. One of them was the TGF-ß signaling gene Smad2. The heterozygotes showed increased energy expenditure and a lower fat-to-body weight ratio compared to wild-type mice. This study provided new insights into mammalian embryonic development and will help understand the pathology of congenital birth defects in humans. In addition, it expanded our understanding of the etiology of obesity.

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Vaginal atresia is a rare obstructive disease of the reproductive tract. It is characterized by the absence or underdevelopment of the vaginal canal and results in various clinical manifestations. Hysterectomy can physically and mentally burden young female patients with a congenital cervix and complete vaginal atresia. This report presents a case of type II vaginal atresia complicated by cervical dysplasia in a female patient >10 years of age. Our team opted to preserve the patient's uterus, innovated a fallopian tube transplantation technique, and performed cervicovaginal reconstruction using natural channels instead of the cervical canal. The patient experienced menarche within the first 2 weeks postoperatively, and follow-up at 6 months revealed no abnormalities.

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BACKGROUND: Thermoregulation interventions in the delivery room have historically focused on preterm infants and studies often exclude term infants or those infants with known congenital anomalies. PURPOSE: The purpose of this quality improvement project was to reduce the rate of admission hypothermia in neonates of all gestational ages born with congenital anomalies and admitted to the intensive care unit (ICU). METHODS: Utilizing the Institute for Healthcare Improvement model for improvement, implementation of plan, do study, act cycles focused on standardizing temperatures of the delivery room and resuscitation bed, recommendations for temperature monitoring, trialing polyethylene lined hats, and implementing a delivery room thermoregulation checklist. RESULTS: Overall, the mean rate of neonates admitted to the ICU hypothermic (<36.5°C) decreased from 27% to 9% over an 8-month period. IMPLICATIONS FOR PRACTICE AND RESEARCH: The interventions significantly reduced the number of neonates admitted to the ICU with hypothermia. Implementation of thermoregulation bundles should apply to all neonates with congenital anomalies to decrease risks associated with hypothermia.

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BACKGROUND: Lack of data on the burden and scope of congenital disorders (CDs) in South Africa undermines resource allocation and limits the ability to detect signals from potentially teratogenic pregnancy exposures. METHODS: We used routine electronic data in the Western Cape Pregnancy Exposure Registry (PER) to determine the overall and individual prevalence of CD identified on neonatal surface examination at birth in the Western Cape, South Africa, 2016-2022. CD was confirmed by record review. The contribution of late (≤24 months) and antenatal diagnoses was assessed. We compared demographic and obstetric characteristics between women with/without pregnancies affected by CD. RESULTS: Women with a viable pregnancy (>22 weeks gestation; birth weight ≥ 500 g) (n = 32,494) were included. Of 1106 potential CD identified, 56.1% were confirmed on folder review. When internal and minor CD were excluded the prevalence of major CD identified on surface examination at birth was 7.2/1000 births. When missed/late diagnoses on examination (16.8%) and ultrasound (6.8%) were included, the prevalence was 9.2/1000 births: 8.9/1000 livebirths and 21.5/1000 stillbirths. The PER did not detect 21.5% of major CD visible at birth. Older maternal age and diabetes mellitus were associated with an increased prevalence of CD. Women living with/without HIV (or the timing of antiretroviral therapy, before/after conception), hypertension or obesity did not significantly affect prevalence of CD. CONCLUSIONS: A surveillance system based on routine data successfully determined the prevalence of major CD identified on surface examination at birth at rates slightly higher than in equivalent studies. Overall rates, modeled at ~2%, are likely underestimated. Strengthening routine neonatal examination and clinical record-keeping could improve CD ascertainment.

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OBJECTIVES: To evaluate and compare audiological outcomes of atresiaplasty and Bonebridge (BB) implantation in patients with unilateral congenital aural atresia (UCAA), to guide clinical decision-making. METHODS: Twenty-seven subjects diagnosed with UCAA were included in the study. Thirteen were implanted with the BB, while 14 undergone atresiaplasty. All patients underwent pre-and post-surgery examinations, including pure-tone audiometry, sound field threshold (SFT), speech reception threshold (SRT), word recognition score (WRS), and horizontal sound source localization tests. RESULTS: (1) Postoperatively, the average SFT decreased by 11.79 ± 5.93 dB HL in the atresiaplasty group and by 24.46 ± 9.36 dB HL in the BB group, with a significantly greater decrease in the BB group compared to the atresiaplasty group (P < 0.05). (2) Both groups demonstrated a significant improvement in average disyllabic WRS postoperatively under normal ear-masking conditions, with the BB group showing a significantly higher improvement than the atresiaplasty group. (3) When the speech signal was presented from the CAA side with noise from the normal hearing side, both surgical groups exhibited a significant decrease in postoperative signal-to-noise ratio compared to preoperative levels, with improvements of 2.14 ± 2.95 dB SNR in the atresiaplasty group and 4.92 ± 5.83 dB SNR in the BB group (P < 0.05). (4) The average minimum audible angle preoperative in the atresiaplasty group was 29.71 ± 18.42°, which decreased to 18.1 ± 10.07° at 6 months postoperatively, showing a statistically significant improvement (P < 0.05). CONCLUSION: We concluded that both atresiaplasty and Bonebridge implantation can significantly improve speech perception under both quiet and noisy conditions in children with UCAA. BoneBridge implantation appears to provide better audiological outcomes than atresiaplasty. Atresiaplasty can significantly improve the accuracy of sound localization. No significant improvement in sound localization accuracy was observed in the short period after Bonebridge implantation. Further research should be conducted with a larger sample size and longer follow-up time.

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Congenital birth defects (CBD) play a significant role in causing child mortality globally. The incidence and mortality of CBD vary widely across countries, and the underlying causes for this divergence remain incompletely comprehended. We conducted an analysis to investigate the relationship between the incidence and mortality of CBD in 189 countries and their Human Development Index (HDI). In this study, CBD data from 189 countries was used from the Global Burden of Diseases Study (GBD) 2019, and HDI data was collected for the same countries. Later, the relationship between CBD and HDI was analyzed, and the impact of gross national income (GNI) per capita, expected years of schooling, mean years of schooling and life expectancy at birth was quantified using principal component regression. The age-standardized incidence rate (ASIR) varied between 66.57 to 202.24 per 100,000, with a 95% uncertainty interval (UI) of 57.20-77.51 and 165.87-241.48 respectively. The age-standardized mortality rate (ASMR) also showed a rang from 1.38 to 26.53 (14.03-39.90) per 100,000, with the 95%UI of 0.91-2.09 and 14.03-39.90 respectively. Both the incidence and mortality rates of CBD decreased with the increased HDI (incidence: r = -0.38, p < 0.001, mortality: r = -0.77, p < 0.001). Our investigation revealed significant variations in the incidence and mortality of CBD among countries with different development levels. In conclusion, the global incidence and mortality of CBD vary significantly among countries, possibly due to differences in the accessibility of health services.

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OBJECTIVE: Fetal anomalies occur in approximately 3% of pregnancies and receiving the diagnosis may be a potentially traumatic experience for families. The mental health of mothers receiving diagnoses and what predicts resilience or poor mental health is understudied. Emotion regulation is an important, modifiable, transdiagnostic factor of mental health, and may be protective post-diagnosis. Evaluating biomarkers of stress, including IL-6 and Allostatic Load (AL), can also serve as early indicators of risk, indicative of early intervention. This study assessed whether reappraisal, suppression, IL-6, and AL was associated with mental health outcomes and resilience in women after receiving a fetal anomaly diagnosis. METHODS: Pregnant women (N=108) presenting to a fetal concerns clinic for initial consultation completed measures of emotion regulation (i.e., reappraisal and suppression), depression, anxiety, posttraumatic stress symptoms, and resilience between 2019-2022. A blood draw was used to assess IL-6 and create composite allostatic load measure including: IL-6, blood pressure, heart rate, glucose, cortisol, and body mass index. RESULTS: Linear regressions controlling for age, gestational age, and perceived fetal diagnosis severity, demonstrated that IL-6 was negatively associated with resilience and positively associated with depression. Reappraisal was positively associated to resilience and negatively associated with depression, anxiety, and PTSD, whereas state insurance status was positively associated to anxiety and PTS symptoms. Suppression and allostatic load were not significant. CONCLUSIONS: Women experiencing fetal anomaly diagnosis represent an understudied population with unaddressed mental health needs. Reappraisal serves as not only a protective factor, but one that can be enhanced to promote maternal resilience and mental health. Furthermore, elevated IL-6 may be a critical early indicator of potential intervention needs among women who are pregnant, to mitigate negative psychological states and enhance resilience.

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PURPOSE: To examine maternal, obstetrical, and neonatal outcomes of pregnancies complicated by major fetal anomalies. METHODS: A 10 year retrospective cohort study at a tertiary university hospital compared maternal and obstetrical outcomes between women with singleton pregnancies complicated by major fetal anomalies, and a control group with non-anomalous fetuses. RESULTS: For the study compared to the control group, the median gestational age at delivery was lower: 37.0 vs. 39.4 weeks (p < 0.001); and the preterm delivery rates were higher, both at < 37 weeks (46.2 vs. 6.2%, p < 0.001) and < 32 weeks (15.4 vs. 1.2%, p < 0.001). For the study compared to the control group, the placental abruption rate was higher (6.8 vs. 0.9%, p = 0.002); 87.5 vs. 100% occurred before labor. For the respective groups, the mean gestational ages at abruption were 32.8 ± 1.3 and 39.9 ± 1.7 weeks (p = 0.024); and cesarean section and postpartum hemorrhage rates were: 53.8 vs. 28.3% (p < 0.001) and 11.3 vs. 2.8% (p = 0.001), respectively. For the respective groups, hypertensive disorders of pregnancy rates were 9.5 vs. 2.1% (p = 0.004), stillbirth rates were 17.1 vs. 0.3% (p < 0.001), and neonatal death rates 12.5 vs. 0.0% (p < 0.001). Major fetal anomalies were found to be associated with adverse maternal outcomes (OR = 2.47, 95% CI 1.50-4.09, p < 0.001). Polyhydramnios was identified as an independent risk factor in a multivariate analysis that adjusted for fetal anomalies, conception by IVF, and primiparity for adverse maternal outcomes (OR = 4.7, 95% CI 1.7-13.6, p < 0.001). CONCLUSIONS: Pregnancies with major fetal anomalies should be treated as high-risk due to the increased likelihood of adverse maternal and neonatal outcomes.

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BACKGROUND: Exposure to long-lasting extreme ambient temperatures in the periconceptional or early pregnancy period might increase the risk of neural tube defects (NTDs). We tested whether prolonged severe heat exposure as experienced during the 2003 extreme heatwave in France, affected the risk of NTDs. METHODS: We retrieved NTD cases spanning from January 1994 to December 2018 from the Paris Registry of Congenital Malformations. The 2003 heatwave was characterized by the long duration and high intensity of nine consecutive days with temperatures ≥35°C. We classified monthly conceptions occurring in August 2003 as "exposed" to prolonged extreme heat around conception (i.e., periconceptional period). We assessed whether the risk of NTDs among cohorts exposed to the prolonged severe heatwave of 2003 in the periconceptional period differed from expected values using Poisson/negative binomial regression. FINDINGS: We identified 1272 NTD cases from January 1994 to December 2018, yielding a monthly mean count of 4.24. Ten NTD cases occurred among births conceived in August 2003. The risk of NTD was increased in the cohort with periconceptional exposure to the August 2003 heatwave (relative risk = 2.14, 95% confidence interval: 1.46 to 3.13), compared to non-exposed cohorts. Sensitivity analyses excluding July and September months or restricting to summer months yielded consistent findings. INTERPRETATION: Evidence from the "natural experiment" of an extreme climate event suggests an elevated risk of NTDs following exposure to prolonged extreme heat during the periconceptional period.

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Congenital anomalies contribute significantly to perinatal, neonatal, and infant morbidity and mortality. The causes of these anomalies vary, ranging from teratogen exposure to genetic disorders. A high suspicion for a genetic condition is especially important because a genetic diagnosis carries a risk of recurrence in future pregnancies. Various methods are available for genetic testing, and each plays a role in establishing a genetic diagnosis. This review summarizes a practical, systematic approach to a fetus or neonate with congenital anomalies.

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